All variants in the DNM2 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001005360.2 transcript reference sequence.

154 entries on 2 pages. Showing entries 1 - 100.
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Effect     

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     
?/. - c.41A>G r.(?) p.(Asn14Ser) - VUS g.10828959A>G g.10718283A>G - - QTRT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.190G>A r.(?) p.(Val64Ile) - benign g.10870442G>A g.10759766G>A DNM2(NM_001005360.2):c.190G>A (p.V64I) - DNM2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.190G>A r.(?) p.(Val64Ile) - VUS g.10870442G>A g.10759766G>A - - DNM2_000062 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - Johan den Dunnen
?/. - c.190G>A r.(?) p.(Val64Ile) - VUS g.10870442G>A g.10759766G>A - - DNM2_000062 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - Johan den Dunnen
-/. - c.235+6A>G r.(=) p.(=) - benign g.10870493A>G g.10759817A>G DNM2(NM_001005360.2):c.235+6A>G - DNM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.235+6A>G r.(=) p.(=) - benign g.10870493A>G g.10759817A>G DNM2(NM_001005360.2):c.235+6A>G - DNM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.235+6A>G r.(=) p.(=) - benign g.10870493A>G g.10759817A>G DNM2(NM_001005360.2):c.235+6A>G - DNM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2i c.235+12C>A r.(=) p.(=) - VUS g.10870499C>A g.10759823C>A - - DNM2_000026 - - - - Germline - - - 0 - Andreas Laner
-/. - c.235+12C>A r.(=) p.(=) - benign g.10870499C>A g.10759823C>A DNM2(NM_001005360.2):c.235+12C>A - DNM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.235+12C>A r.(=) p.(=) - benign g.10870499C>A g.10759823C>A DNM2(NM_001005360.2):c.235+12C>A - DNM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.235+12C>A r.(=) p.(=) - benign g.10870499C>A g.10759823C>A DNM2(NM_001005360.2):c.235+12C>A - DNM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 2i c.236-29C>G r.(=) p.(=) - benign g.10883126C>G g.10772450C>G - - DNM2_000027 - - - rs3826803 Germline - - - 0 - Andreas Laner
-?/. - c.236-8C>G r.(=) p.(=) - likely benign g.10883147C>G g.10772471C>G - - DNM2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.238C>T r.(?) p.(His80Tyr) - likely benign g.10883157C>T g.10772481C>T DNM2(NM_001005360.2):c.238C>T (p.H80Y) - DNM2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.269A>G r.(?) p.(Lys90Arg) - VUS g.10883188A>G - DNM2(NM_001005360.2):c.269A>G (p.K90R) - DNM2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.292C>T r.(?) p.(Arg98Trp) - VUS g.10883211C>T g.10772535C>T - - DNM2_000070 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs200408053 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-/. - c.519T>C r.(?) p.(Ala173=) - benign g.10886512T>C g.10775836T>C - - DNM2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.596G>A r.(?) p.(Arg199Gln) - pathogenic g.10887800G>A g.10777124G>A - - DNM2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.637G>T r.(?) p.(Gly213Cys) - VUS g.10887841G>T g.10777165G>T - - DNM2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.666C>T r.(?) p.(Asn222=) - likely benign g.10887870C>T g.10777194C>T DNM2(NM_001005360.2):c.666C>T (p.N222=) - DNM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.688+7C>T r.(=) p.(=) - likely benign g.10887899C>T g.10777223C>T DNM2(NM_001005360.2):c.688+7C>T - DNM2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.745C>T r.(?) p.(Arg249Cys) - likely pathogenic g.10893692C>T g.10783016C>T - - DNM2_000076 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
-?/. - c.788C>T r.(?) p.(Pro263Leu) - likely benign g.10893735C>T g.10783059C>T - - DNM2_000071 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3745674 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. - c.851A>G r.(?) p.(Gln284Arg) - pathogenic g.10897241A>G g.10786565A>G - - DNM2_000086 - PubMed: Thomas 2022 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
?/. - c.853C>G r.(?) p.(Leu285Val) - VUS g.10897243C>G g.10786567C>G - - DNM2_000069 - PubMed: Punetha 2016 - - Germline/De novo (untested) - 1/94 cases - 0 - Johan den Dunnen
+?/. - c.869G>A r.(?) p.(Arg290Gln) ACMG likely pathogenic (dominant) g.10897259G>A g.10786583G>A - - DNM2_000084 ACMG PS3, PM2 PubMed: Natera-de Benito 2021 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.881C>T r.(?) p.(Pro294Leu) ACMG likely pathogenic (dominant) g.10897271C>T - - - DNM2_000082 - - - - De novo - - - - - Mariko Okubo
+?/. - c.890G>A r.(?) p.(Arg297His) - VUS g.10897280G>A g.10786604G>A - - DNM2_000085 ACMG: PM2-PP2-PP3 PubMed: Ferese 2021 SCV000762731.1 rs763894364 Germline/De novo (untested) - - - 0 - Yvet den Hartog
-?/. - c.992+11C>T r.(=) p.(=) - likely benign g.10897393C>T g.10786717C>T DNM2(NM_001005360.2):c.992+11C>T - DNM2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 8 c.1072G>A r.(?) p.(Gly358Arg) - pathogenic g.10904475G>A g.10793799G>A - - DNM2_000017 not in 384 control chromosomes PubMed: Gallardo 2008, PubMed: Claeys 2009, OMIM:var0012 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1072G>A r.(?) p.(Gly358Arg) - pathogenic g.10904475G>A g.10793799G>A - - DNM2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 8 c.1077C>T r.(=) p.(=) - benign g.10904480C>T g.10793804C>T - - DNM2_000028 - - - rs112238216 Germline - - - 0 - Andreas Laner
-/. - c.1077C>T r.(?) p.(Gly359=) - benign g.10904480C>T g.10793804C>T DNM2(NM_001005360.2):c.1077C>T (p.G359=) - DNM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1077C>T r.(?) p.(Gly359=) - benign g.10904480C>T g.10793804C>T DNM2(NM_001005360.2):c.1077C>T (p.G359=) - DNM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1090C>T r.(?) p.(Arg364Cys) - likely pathogenic g.10904493C>T g.10793817C>T DNM2(NM_001005360.2):c.1090C>T (p.R364C) - DNM2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
+/. 8 c.1102G>A r.(?) p.(Glu368Lys) - pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 - PubMed: O'Grady 2016 - - De novo - - - 0 - Sandra Cooper
+/. 8 c.1102G>A r.(?) p.(Glu368Lys) - pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 not in 300 control chromosomes; de novo, in patient PubMed: Bitoun 2005, OMIM:var0007 - - De novo - - - 0 - Johan den Dunnen
+?/. 8 c.1102G>A r.(?) p.(Glu368Lys) - likely pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 - PubMed: Tosch 2006, OMIM:var0002 - rs121434510 De novo - - - 0 - Johan den Dunnen
+/. 8 c.1102G>A r.(?) p.(Glu368Lys) - pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 - - - - Germline - - - 0 - Tom Winder
+/. - c.1102G>A r.(?) p.(Glu368Lys) - pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1102G>A r.(?) p.(Glu368Lys) - pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121909092 Germline - 1/2793 individuals - 0 - Mohammed Faruq
+/. - c.1102G>A r.(?) p.(Glu368Lys) ACMG pathogenic g.10904505G>A - - - DNM2_000001 - - - - De novo - - - - - Mariko Okubo
+/. - c.1102G>A r.(?) p.(Glu368Lys) ACMG pathogenic g.10904505G>A - - - DNM2_000001 - - - - De novo - - - - - Mariko Okubo
+/. - c.1102G>A r.(?) p.(Glu368Lys) ACMG pathogenic (dominant) g.10904505G>A g.10793829G>A - - DNM2_000001 ACMG PM1, PM2, PM3, PM5, PM6, PP3, PP5 PubMed: Natera-de Benito 2021 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1102G>A r.(?) p.(Glu368Lys) ACMG pathogenic (dominant) g.10904505G>A g.10793829G>A - - DNM2_000001 ACMG PM1, PM2, PM5, PM6, PP3, PP5 PubMed: Natera-de Benito 2021 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.1102G>A r.(?) p.(Glu368Lys) - likely pathogenic g.10904505G>A g.10793829G>A - - DNM2_000001 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.1102G>C r.(?) p.(Glu368Gln) - pathogenic g.10904505G>C g.10793829G>C - - DNM2_000012 - PubMed: Echaniz-Laguna 2007 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1102G>C r.(?) p.(Glu368Gln) - pathogenic g.10904505G>C g.10793829G>C DNM2(NM_001005360.2):c.1102G>C (p.E368Q) - DNM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 8 c.1105C>T r.(?) p.(Arg369Trp) - pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0005 - - Germline - - AciI- 0 - Johan den Dunnen
+/. 8 c.1105C>T r.(?) p.(Arg369Trp) - pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0005 - - Germline - - AciI- 0 - Johan den Dunnen
+/. 8 c.1105C>T r.(?) p.(Arg369Trp) - pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0005 - - Germline - - AciI- 0 - Johan den Dunnen
+/. - c.1105C>T r.(?) p.(Arg369Trp) - pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1105C>T r.(?) p.(Arg369Trp) - likely pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
+?/. - c.1105C>T r.(?) p.(Arg369Trp) - likely pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - Johan den Dunnen
+/. 8 c.1106G>A r.(?) p.(Arg369Gln) - pathogenic g.10904509G>A g.10793833G>A - - DNM2_000007 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0004 - - Germline - - AciI- 0 - Johan den Dunnen
+?/. - c.1106G>A r.(?) p.(Arg369Gln) - likely pathogenic (dominant) g.10904509G>A g.10793833G>A - - DNM2_000007 AD, segregates with disease PubMed: Antoniadi 2015 - rs121909089 Germline - - - 0 - Johan den Dunnen
+/. - c.1106G>A r.(?) p.(Arg369Gln) ACMG pathogenic g.10904509G>A - - - DNM2_000007 - - - - De novo - - - - - Mariko Okubo
+?/. - c.1106G>A r.(?) p.(Arg369Gln) - likely pathogenic g.10904509G>A g.10793833G>A - - DNM2_000007 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - 0 - Johan den Dunnen
+?/. 8 c.1115T>C r.(?) p.(Phe372Ser) - likely pathogenic g.10904518T>C g.10793842T>C - - DNM2_000023 - - - - De novo - - - 0 - Tom Winder
-?/. - c.1218C>T r.(?) p.(Asp406=) - likely benign g.10906758C>T g.10796082C>T DNM2(NM_001005360.2):c.1218C>T (p.D406=) - DNM2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1335+13C>T r.(=) p.(=) - benign g.10906888C>T g.10796212C>T DNM2(NM_001005360.2):c.1335+13C>T - DNM2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1336-1085C>T r.(=) p.(=) - likely benign g.10908077C>T g.10797401C>T DNM2(NM_001005361.2):c.1218C>T (p.D406=) - DNM2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1336-1085C>T r.(=) p.(=) - likely benign g.10908077C>T g.10797401C>T DNM2(NM_001005361.2):c.1218C>T (p.D406=) - DNM2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1336-1012dup r.? p.? - likely pathogenic g.10908150dup g.10797474dup NM_001005361.2:c.1291dup - DNM2_000077 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
+?/. - c.1373G>A r.(?) p.(Arg458Gln) - likely pathogenic g.10909199G>A g.10798523G>A - - DNM2_000078 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - Johan den Dunnen
?/. - c.1384A>G r.(?) p.(Thr462Ala) - VUS g.10909210A>G g.10798534A>G - - DNM2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 not in 300 control chromosomes PubMed: Bitoun 2005, OMIM:var0006 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.1393C>T r.(?) p.(Arg465Trp) - pathogenic g.10909219C>T g.10798543C>T - - DNM2_000009 - - - - Germline - - - 0 - Tom Winder
+/. - c.1393C>T r.(?) p.(Arg465Trp) - pathogenic g.10909219C>T g.10798543C>T DNM2(NM_001005360.2):c.1393C>T (p.(Arg465Trp), p.R465W) - DNM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.1393C>T r.(?) p.(Arg465Trp) - pathogenic g.10909219C>T g.10798543C>T DNM2(NM_001005360.2):c.1393C>T (p.(Arg465Trp), p.R465W) - DNM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1393C>T r.(?) p.(Arg465Trp) ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - Mariko Okubo
+/. - c.1393C>T r.(?) p.(Arg465Trp) ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - Mariko Okubo
+/. - c.1393C>T r.(?) p.(Arg465Trp) ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - Mariko Okubo
+/. - c.1393C>T r.(?) p.(Arg465Trp) ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - Mariko Okubo
+/. - c.1393C>T r.(?) p.(Arg465Trp) ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - Mariko Okubo
+/. - c.1393C>T r.(?) p.(Arg465Trp) ACMG pathogenic g.10909219C>T - - - DNM2_000009 - - - - De novo - - - - - Mariko Okubo
+?/. - c.1393C>T r.(?) p.(Arg465Trp) - likely pathogenic g.10909219C>T - DNM2(NM_001005360.2):c.1393C>T (p.(Arg465Trp), p.R465W) - DNM2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.1423-12G>A r.(=) p.(=) - benign g.10912952G>A g.10802276G>A DNM2(NM_001005360.2):c.1423-12G>A - DNM2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.1483G>A r.(?) p.(Gly495Arg) ACMG likely pathogenic (dominant) g.10913024G>A g.10802348G>A - - DNM2_000073 - - - - Germline yes - - 0 - Mathieu Cerino
+?/. - c.1483G>A r.(?) p.(Gly495Arg) ACMG likely pathogenic (dominant) g.10913024G>A - - - DNM2_000073 - - - - De novo - - - - - Mariko Okubo
-?/. - c.1545+14C>G r.(=) p.(=) - likely benign g.10916657C>G g.10805981C>G DNM2(NM_001005360.2):c.1545+14C>G - DNM2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 13i c.1545+86C>G r.(=) p.(=) - VUS g.10916729C>G g.10806053C>G - - DNM2_000029 - - - - Germline - - - 0 - Andreas Laner
+?/. - c.1559T>G r.(?) p.(Val520Gly) ACMG pathogenic (dominant) g.10922941T>G - - - DNM2_000080 - - - - De novo - - - - - Mariko Okubo
+/. 15 c.1565G>A r.(?) p.(Arg522His) - pathogenic g.10922947G>A g.10812271G>A - - DNM2_000022 - - - - Germline - - - 0 - Andreas Laner
+/. 15 c.1565G>A r.(?) p.(Arg522His) - pathogenic g.10922947G>A g.10812271G>A - - DNM2_000022 - - - - Germline - - - 0 - Tom Winder
+?/. - c.1565G>A r.(?) p.(Arg522His) - likely pathogenic g.10922947G>A g.10812271G>A - - DNM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.1565G>A r.(?) p.(Arg522His) - likely pathogenic (recessive) g.10922947G>A g.10812271G>A - - DNM2_000022 - PubMed: Park 2017 - - Germline - 1/209 cases - 0 - Johan den Dunnen
?/. - c.1609G>A r.(?) p.(Gly537Ser) - VUS g.10922991G>A g.10812315G>A - - DNM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1609G>A r.(?) p.(Gly537Ser) ACMG VUS g.10922991G>A g.10812315G>A - - DNM2_000051 ACMG grading: PM2,PM5 - - rs121909093 Germline - - - 0 - Andreas Laner
+/. 15 c.1609G>T r.(?) p.(Gly537Cys) - pathogenic g.10922991G>T g.10812315G>T 1597G>T - DNM2_000010 not in 200 control chromosomes PubMed: Fabrizi 2007, OMIM:var0008 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1609G>T r.(?) p.(Gly537Cys) - pathogenic g.10922991G>T g.10812315G>T DNM2(NM_001005360.2):c.1609G>T (p.G537C) - DNM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1619A>G r.(?) p.(Glu540Gly) - VUS g.10923001A>G g.10812325A>G - - DNM2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 15_15i c.1664_1671+1del r.1663_1671del p.[Asp555_Glu558del, Asp555Glyfs*12] - pathogenic g.10923046_10923054del g.10812370_10812378del 1652_1659+1delATGAGGAGg - DNM2_000021 mapped by linkage; not in 500 control chromosomes PubMed: Zuchner 2005, OMIM:var0001 - - Germline - - - 0 - Johan den Dunnen
+/. 16 c.1675_1677del r.(?) p.(Lys559del) - pathogenic g.10930659_10930661del g.10819983_10819985del 1675_1677delAAA - DNM2_000002 - PubMed: Bitoun 2008 - - Germline - - - 0 - Johan den Dunnen
+/. 16 c.1678G>A r.(?) p.(Glu560Lys) - pathogenic g.10930662G>A g.10819986G>A - - DNM2_000003 - PubMed: Bitoun 2009 - - Germline - - - 0 - Johan den Dunnen
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