Unique 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.

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

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
?/. 1 - c.41A>G r.(?) p.(Asn14Ser) - VUS g.10828959A>G g.10718283A>G - - QTRT1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., ?/. 3 - c.190G>A r.(?) p.(Val64Ile) - benign, VUS g.10870442G>A g.10759766G>A DNM2(NM_001005360.2):c.190G>A (p.V64I) - DNM2_000062 VKGL data sharing initiative Nederland PubMed: Punetha 2016 - - CLASSIFICATION record, Germline/De novo (untested) - 1/94 cases - - - Johan den Dunnen, VKGL-NL_AMC
-/. 3 - 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_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., ?/. 4 2i c.235+12C>A r.(=) p.(=) - benign, VUS g.10870499C>A g.10759823C>A DNM2(NM_001005360.2):c.235+12C>A - DNM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 2i c.236-29C>G r.(=) p.(=) - benign g.10883126C>G g.10772450C>G - - DNM2_000027 - - - rs3826803 Germline - - - - - Andreas Laner
-?/. 1 - 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
-?/. 1 - 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 - - - - - VKGL-NL_AMC
?/. 1 - 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
?/. 1 - 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 - - - Mohammed Faruq
-/. 1 - 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
+/. 1 - 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
?/. 1 - c.637G>T r.(?) p.(Gly213Cys) - VUS g.10887841G>T g.10777165G>T - - DNM2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - 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
-?/. 1 - 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
+?/. 1 - 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 - - - Johan den Dunnen
-?/. 1 - 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 - - - Mohammed Faruq
+/. 1 - c.851A>G r.(?) p.(Gln284Arg) - pathogenic g.10897241A>G g.10786565A>G - - DNM2_000086 - PubMed: Thomas 2022 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. 1 - 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 - - - Johan den Dunnen
+?/. 1 - 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 - - - - - Johan den Dunnen
-?/. 1 - c.881C>T r.(?) p.(Pro294Leu) ACMG likely pathogenic (dominant) g.10897271C>T - - - DNM2_000082 - - - - De novo - - - - - Mariko Okubo
+?/. 1 - 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) - - - - - Yvet den Hartog
-?/. 1 - 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 - - - - - VKGL-NL_AMC
+/. 2 8 c.1072G>A r.(?) p.(Gly358Arg) - pathogenic g.10904475G>A g.10793799G>A - - DNM2_000017 not in 384 control chromosomes, VKGL data sharing initiative Nederland PubMed: Gallardo 2008, PubMed: Claeys 2009, OMIM:var0012 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/. 3 8 c.1077C>T r.(=), r.(?) p.(=), 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 - - rs112238216 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - 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 - - - - - VKGL-NL_VUmc
+/., +?/. 11 8 c.1102G>A r.(?) p.(Glu368Lys) ACMG likely pathogenic, pathogenic, pathogenic (dominant) g.10904505G>A g.10793829G>A - - DNM2_000001 1 heterozygous, no homozygous; Clinindb (India), ACMG PM1, PM2, PM3, PM5, PM6, PP3, PP5, 3 more items PubMed: Bitoun 2005, OMIM:var0007, PubMed: Gonzalez-Quereda 2020, PubMed: Natera-de Benito 2021, 3 more items - rs121434510, rs121909092 CLASSIFICATION record, De novo, Germline - 1/2793 individuals - - - Johan den Dunnen, Tom Winder, Sandra Cooper, VKGL-NL_Nijmegen, Mohammed Faruq, Mariko Okubo
+/. 2 8 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 PubMed: Echaniz-Laguna 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/., +?/. 6 8 c.1105C>T r.(?) p.(Arg369Trp) - likely pathogenic, pathogenic g.10904508C>T g.10793832C>T - - DNM2_000008 combination of variants not reported, not in 300 control chromosomes, 1 more item PubMed: Bitoun 2005, OMIM:var0005, PubMed: Gonzalez-Quereda 2020, PubMed: Topf 2020 - - CLASSIFICATION record, Germline - 1/1001 cases AciI- - - Johan den Dunnen, VKGL-NL_Nijmegen
+/., +?/. 4 8 c.1106G>A r.(?) p.(Arg369Gln) ACMG likely pathogenic, likely pathogenic (dominant), pathogenic g.10904509G>A g.10793833G>A - - DNM2_000007 AD, segregates with disease, not in 300 control chromosomes PubMed: Antoniadi 2015, PubMed: Bitoun 2005, OMIM:var0004, PubMed: Gonzalez-Quereda 2020 - rs121909089 De novo, Germline - - AciI- - - Johan den Dunnen, Mariko Okubo
+?/. 1 8 c.1115T>C r.(?) p.(Phe372Ser) - likely pathogenic g.10904518T>C g.10793842T>C - - DNM2_000023 - - - - De novo - - - - - Tom Winder
-?/. 1 - 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 - - - - - VKGL-NL_AMC
-/. 1 - 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
-?/. 2 - 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, VKGL-NL_AMC
+?/. 1 - 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 - - - Johan den Dunnen
+?/. 1 - 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 - - - Johan den Dunnen
?/. 1 - c.1384A>G r.(?) p.(Thr462Ala) - VUS g.10909210A>G g.10798534A>G - - DNM2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 16 11 c.1393C>T r.(?) p.(Arg465Trp) ACMG likely pathogenic, pathogenic g.10909219C>T g.10798543C>T DNM2(NM_001005360.2):c.1393C>T (p.(Arg465Trp), p.R465W) - DNM2_000009 not in 300 control chromosomes, VKGL data sharing initiative Nederland PubMed: Bitoun 2005, OMIM:var0006 - - CLASSIFICATION record, De novo, Germline - - - - - Johan den Dunnen, Tom Winder, VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, Mariko Okubo
-/. 1 - 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 - - - - - VKGL-NL_AMC
+?/. 2 - c.1483G>A r.(?) p.(Gly495Arg) ACMG likely pathogenic (dominant) g.10913024G>A g.10802348G>A - - DNM2_000073 - - - - De novo, Germline yes - - - - Mathieu Cerino, Mariko Okubo
-?/. 1 - 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
?/. 1 13i c.1545+86C>G r.(=) p.(=) - VUS g.10916729C>G g.10806053C>G - - DNM2_000029 - - - - Germline - - - - - Andreas Laner
+?/. 1 - c.1559T>G r.(?) p.(Val520Gly) ACMG pathogenic (dominant) g.10922941T>G - - - DNM2_000080 - - - - De novo - - - - - Mariko Okubo
+/., +?/. 4 15 c.1565G>A r.(?) p.(Arg522His) - likely pathogenic, likely pathogenic (recessive), pathogenic g.10922947G>A g.10812271G>A - - DNM2_000022 VKGL data sharing initiative Nederland PubMed: Park 2017 - - CLASSIFICATION record, Germline - 1/209 cases - - - Johan den Dunnen, Tom Winder, Andreas Laner, VKGL-NL_Nijmegen
?/. 2 - c.1609G>A r.(?) p.(Gly537Ser) ACMG VUS g.10922991G>A g.10812315G>A - - DNM2_000051 ACMG grading: PM2,PM5, VKGL data sharing initiative Nederland - - rs121909093 CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Nijmegen
+/. 2 15 c.1609G>T r.(?) p.(Gly537Cys) - pathogenic g.10922991G>T g.10812315G>T 1597G>T, DNM2(NM_001005360.2):c.1609G>T (p.G537C) - DNM2_000010 not in 200 control chromosomes, VKGL data sharing initiative Nederland PubMed: Fabrizi 2007, OMIM:var0008 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
?/. 1 - 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
+/. 1 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 - - - - - Johan den Dunnen
+/. 1 16 c.1675_1677del r.(?) p.(Lys559del) - pathogenic g.10930659_10930661del g.10819983_10819985del 1675_1677delAAA - DNM2_000002 - PubMed: Bitoun 2008 - - Germline - - - - - Johan den Dunnen
+/., +?/. 2 16 c.1678G>A r.(?) p.(Glu560Lys) - likely pathogenic, pathogenic g.10930662G>A g.10819986G>A - - DNM2_000003 VKGL data sharing initiative Nederland PubMed: Bitoun 2009 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 3 16 c.1684A>G r.(?) p.(Lys562Glu) - pathogenic g.10930668A>G g.10819992A>G 1672A>G, DNM2(NM_001005360.2):c.1684A>G (p.K562E) - DNM2_000018 VKGL data sharing initiative Nederland PubMed: Claeys 2009, PubMed: Zuchner 2005, PubMed: Claeys 2009, OMIM:var0002 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/., +?/., ?/. 3 16 c.1684_1686del r.(?) p.(Lys562del) - likely pathogenic, pathogenic, VUS g.10930668_10930670del g.10819992_10819994del 1672_1674delAAG, DNM2(NM_001005360.2):c.1684_1686delAAG (p.K562del) - DNM2_000019 VKGL data sharing initiative Nederland PubMed: Zuchner 2005, PubMed: Claeys 2009, OMIM:var0003 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_AMC
+/. 2 16 c.1709T>A r.(?) p.(Leu570His) - pathogenic g.10930693T>A g.10820017T>A 1697T>A, DNM2(NM_001005360.2):c.1709T>A (p.L570H) - DNM2_000011 not in 200 control chromosomes, VKGL data sharing initiative Nederland PubMed: Fabrizi 2007, OMIM:var0009 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_AMC
+/. 1 - c.1739T>C r.(?) p.(Met580Thr) - pathogenic (dominant) g.10930723T>C g.10820047T>C - - DNM2_000072 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.1752C>T r.(?) p.(His584=) - likely benign g.10930736C>T g.10820060C>T DNM2(NM_001005360.2):c.1752C>T (p.H584=) - DNM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1781+17C>A r.(=) p.(=) - benign g.10930782C>A g.10820106C>A DNM2(NM_001005360.2):c.1781+17C>A - DNM2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1782-11C>T r.(=) p.(=) - benign g.10934453C>T g.10823777C>T DNM2(NM_001005360.2):c.1782-11C>T - DNM2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1782-7C>G r.(=) p.(=) - likely benign g.10934457C>G g.10823781C>G DNM2(NM_001005360.2):c.1782-7C>G (p.(=)) - DNM2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1782-4G>A r.spl? p.? - likely benign g.10934460G>A g.10823784G>A DNM2(NM_001005360.2):c.1782-4G>A - DNM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1844G>T r.(?) p.(Ser615Ile) - VUS g.10934526G>T g.10823850G>T - - DNM2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 17 c.1852G>A r.(?) p.(Ala618Thr) - pathogenic g.10934534G>A g.10823858G>A - - DNM2_000013 VKGL data sharing initiative Nederland PubMed: Bitoun 2007 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/. 2 17 c.1853C>A r.(?) p.(Ala618Asp) - pathogenic g.10934535C>A g.10823859C>A - - DNM2_000005 - PubMed: Melberg 2010 - - Germline - - - - - Johan den Dunnen, Tom Winder
+/. 1 17 c.1856C>G r.(?) p.(Ser619Trp) - pathogenic g.10934538C>G g.10823862C>G - - DNM2_000015 - PubMed: Bitoun 2007, OMIM:var0011 - - Germline - - - - - Johan den Dunnen
+/., +?/. 5 17 c.1856C>T r.(?) p.(Ser619Leu) ACMG likely pathogenic, pathogenic g.10934538C>T g.10823862C>T - - DNM2_000014 1 heterozygous, no homozygous; Clinindb (India) PubMed: Bitoun 2007, OMIM:var0010, PubMed: Narang 2020, Journal: Narang 2020 - rs121909095 De novo, Germline - 1/2795 individuals - - - Johan den Dunnen, Mohammed Faruq, Mariko Okubo
+/. 1 17 c.1862T>C r.(?) p.(Leu621Pro) - pathogenic g.10934544T>C g.10823868T>C - - DNM2_000006 - PubMed: Jungbluth 2010 - - Germline - - AvaI+ - - Johan den Dunnen
+?/. 2 - c.1871G>T r.(?) p.(Gly624Val) ACMG likely pathogenic (dominant) g.10934553G>T - - - DNM2_000081 - - - - De novo - - - - - Mariko Okubo
+/. 1 17 c.1873_1875del r.(?) p.(Val625del) - pathogenic g.10934555_10934557del g.10823879_10823881del 1873_1875delGTC - DNM2_000016 - PubMed: Bitoun 2007 - - Germline - - - - - Johan den Dunnen
+/. 1 17 c.1880C>A r.(?) p.(Pro627His) - pathogenic g.10934562C>A g.10823886C>A - - DNM2_000025 - PubMed: O'Grady 2016 - - De novo - - - - - Sandra Cooper
?/. 1 17i c.1893+32dup r.(=) p.(=) - VUS g.10934607dup g.10823931dup - - DNM2_000031 - - - - Germline - - - - - Andreas Laner
-/., -?/. 3 - c.1902C>T r.(?) p.(Asn634=) - benign, likely benign g.10935741C>T g.10825065C>T DNM2(NM_001005360.2):c.1902C>T (p.N634=) - DNM2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/. 1 18 c.1932del r.(?) p.(Met645Trpfs*39) - pathogenic g.10935771del g.10825095del - - DNM2_000032 - - - - Germline - - - - - Andreas Laner
?/. 1 18 c.1940C>G r.(?) p.(Pro647Arg) - VUS g.10935779C>G g.10825103C>G - - DNM2_000024 - - - - Unknown - - - - - Olivera Casar-Borota
+/. 1 18 c.1948G>A r.(?) p.(Glu650Lys) - pathogenic g.10935787G>A g.10825111G>A - - DNM2_000004 - PubMed: Bitoun 2009 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1958T>G r.(?) p.(Val653Gly) - benign g.10935797T>G g.10825121T>G - - DNM2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 18i c.2058+89G>A r.(=) p.(=) - benign g.10935986G>A g.10825310G>A - - DNM2_000033 - - - rs57561584 Germline - - - - - Andreas Laner
-/. 2 - c.2139T>C r.(?) p.(Ala713=) - benign g.10939792T>C g.10829116T>C DNM2(NM_001005360.2):c.2139T>C (p.A713=) - DNM2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.2171G>A r.(?) p.(Arg724His) ACMG likely pathogenic (dominant) g.10939824G>A - - - DNM2_000083 - - - - De novo - - - - - Mariko Okubo
?/. 1 - c.2179C>T r.(?) p.(His727Tyr) - VUS g.10939832C>T - DNM2(NM_001005360.2):c.2179C>T (p.H727Y) - DNM2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2257G>A r.(?) p.(Asp753Asn) - VUS g.10939910G>A g.10829234G>A - - DNM2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 19i c.2292-85A>G r.(=) p.(=) - benign g.10940718A>G g.10830042A>G - - DNM2_000034 - - - rs58724234 Germline - - - - - Andreas Laner
-?/. 1 - c.2393T>G r.(?) p.(Val798Gly) - likely benign g.10940904T>G g.10830228T>G DNM2(NM_001005360.2):c.2393T>G (p.V798G) - DNM2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.2484G>A r.(?) p.(Pro828=) - benign g.10940995G>A g.10830319G>A DNM2(NM_001005360.2):c.2484G>A (p.P828=) - DNM2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.2543+7C>G r.(=) p.(=) - likely benign g.10941061C>G g.10830385C>G DNM2(NM_001005360.2):c.2543+7C>G - DNM2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+/. 1 21 c.2576_2581del r.(?) p.(Thr859_Ile860del) - pathogenic g.10941686_10941691del g.10831010_10831015del 2564_2569delCCATTA - DNM2_000020 not in 384 control chromosomes PubMed: Claeys 2009 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.2607C>T r.(?) p.(Leu869=) - likely benign g.10941717C>T g.10831041C>T DNM2(NM_001005360.2):c.2607C>T (p.L869=) - DNM2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.*13dup r.(?) p.(=) - likely benign g.10941736dup - DNM2(NM_001005360.2):c.*13dupG - DNM2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.*268A>T r.(=) p.(=) - benign g.10941991A>T g.10831315A>T DNM2(NM_001005360.2):c.*268A>T - DNM2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
Legend   How to query