Unique variants in the DTNA gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_001390.4 transcript reference sequence.

105 entries on 2 pages. Showing entries 1 - 100.
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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.-76383T>G r.(?) p.(=) - VUS g.32259558T>G - DTNA(NM_001198939.2):c.-2+2T>G - DTNA_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.17G>C r.(?) p.(Gly6Ala) - VUS g.32335957G>C g.34755993G>C - - DTNA_000092 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/121 cases - - - Johan den Dunnen
-?/. 1 - c.51G>A r.(?) p.(Gln17=) - likely benign g.32335991G>A g.34756027G>A - - DTNA_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.68-8_68-7insT r.(=) p.(=) - likely benign g.32345917_32345918insT g.34765953_34765954insT - - DTNA_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.68-3T>A r.spl? p.? - VUS g.32345922T>A - DTNA(NM_001390.5):c.68-3T>A - DTNA_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.92G>A r.(?) p.(Arg31Gln) - likely benign g.32345949G>A g.34765985G>A DTNA(NM_001198939.2):c.92G>A (p.R31Q) - DTNA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 3 - c.126G>A r.(?) p.(Arg42=) - likely benign g.32345983G>A g.34766019G>A DTNA(NM_001198939.2):c.126G>A (p.R42=), DTNA(NM_001390.4):c.126G>A (p.R42=) - DTNA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.153C>G r.(?) p.(His51Gln) - VUS g.32374005C>G g.34794041C>G DTNA(NM_001198939.2):c.153C>G (p.H51Q) - DTNA_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.176T>C r.(?) p.(Ile59Thr) - VUS g.32374028T>C g.34794064T>C DTNA(NM_001198939.2):c.176T>C (p.I59T) - DTNA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.177A>G r.(?) p.(Ile59Met) - VUS g.32374029A>G g.34794065A>G DTNA(NM_001198939.2):c.177A>G (p.I59M) - DTNA_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.210G>A r.(?) p.(Leu70=) - benign, likely benign g.32374062G>A g.34794098G>A DTNA(NM_001198939.2):c.210G>A (p.L70=) - DTNA_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.229A>G r.(?) p.(Asn77Asp) - likely benign g.32374081A>G g.34794117A>G DTNA(NM_001198939.2):c.229A>G (p.N77D) - DTNA_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.231C>T r.(?) p.(Asn77=) - likely benign g.32374083C>T g.34794119C>T DTNA(NM_001198939.2):c.231C>T (p.N77=) - DTNA_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.239G>A r.(?) p.(Arg80His) - VUS g.32374091G>A g.34794127G>A DTNA(NM_001198939.2):c.239G>A (p.R80H) - DTNA_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 3 - c.243A>G r.(?) p.(Leu81=) - benign, likely benign g.32374095A>G g.34794131A>G DTNA(NM_001198939.1):c.243A>G (p.L81=), DTNA(NM_001198939.2):c.243A>G (p.L81=) - DTNA_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 3 c.257C>T r.(?) p.(Ser86Phe) - likely pathogenic g.32374109C>T g.34794145C>T - - DTNA_000003 - - - - Germline - - - - - Sofie Lindgren Christiansen
?/. 1 - c.259A>G r.(?) p.(Thr87Ala) - VUS g.32374111A>G g.34794147A>G DTNA(NM_001198939.2):c.259A>G (p.T87A) - DTNA_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 3 - c.316C>G r.(?) p.(Gln106Glu) - likely benign, VUS g.32374168C>G g.34794204C>G 1 more item - DTNA_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.330C>T r.(?) p.(Leu110=) - likely benign g.32374182C>T g.34794218C>T DTNA(NM_001390.4):c.330C>T (p.L110=) - DTNA_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.354G>A r.(?) p.(Ala118=) - likely benign g.32374206G>A g.34794242G>A DTNA(NM_001198939.2):c.354G>A (p.A118=) - DTNA_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 4 c.362C>T r.spl? p.(Pro121Leu) - pathogenic g.32374214C>T g.34794250C>T - - DTNA_000001 change not in 600 control chromosomes (400 Japan, 200 white) PubMed: Ichida 2001, PubMed: Xing 2006, OMIM:var0001 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.398A>T r.(?) p.(Lys133Ile) - VUS g.32386218A>T g.34806254A>T DTNA(NM_001198939.2):c.398A>T (p.K133I) - DTNA_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.482T>C r.(?) p.(Val161Ala) - likely benign g.32391956T>C g.34811992T>C DTNA(NM_001198939.2):c.482T>C (p.V161A), DTNA(NM_001390.4):c.482T>C (p.V161A) - DTNA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.537G>A r.(?) p.(Thr179=) - likely benign g.32392011G>A g.34812047G>A DTNA(NM_001390.4):c.537G>A (p.T179=) - DTNA_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.537G>T r.(?) p.(Thr179=) - likely benign g.32392011G>T g.34812047G>T DTNA(NM_001198939.2):c.537G>T (p.T179=) - DTNA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.562G>A r.(?) p.(Gly188Ser) - VUS g.32392036G>A g.34812072G>A DTNA(NM_001198939.2):c.562G>A (p.G188S) - DTNA_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.603+15T>C r.(=) p.(=) - likely benign g.32392092T>C g.34812128T>C DTNA(NM_001198939.2):c.603+15T>C - DTNA_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.604-16G>T r.(=) p.(=) - likely benign g.32395857G>T g.34815893G>T - - DTNA_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.604-14G>T r.(=) p.(=) - benign, likely benign g.32395859G>T g.34815895G>T DTNA(NM_001198939.2):c.604-14G>T - DTNA_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 2 - c.614C>T r.(?) p.(Thr205Met) - VUS g.32395883C>T g.34815919C>T DTNA(NM_001198939.2):c.614C>T (p.T205M) - DTNA_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.636G>T r.(?) p.(Thr212=) - likely benign g.32395905G>T g.34815941G>T - - DTNA_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.709+8G>C r.(=) p.(=) - likely benign g.32395986G>C g.34816022G>C DTNA(NM_001198939.2):c.709+8G>C - DTNA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.720G>A r.(?) p.(Pro240=) - likely benign g.32398138G>A g.34818174G>A - - DTNA_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.784C>T r.(?) p.(His262Tyr) - VUS g.32398202C>T g.34818238C>T DTNA(NM_001198939.2):c.784C>T (p.H262Y) - DTNA_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.786C>A r.(?) p.(His262Gln) - VUS g.32398204C>A - DTNA(NM_001390.5):c.786C>A (p.H262Q) - DTNA_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.829G>A r.(?) p.(Gly277Ser) - likely benign g.32398247G>A - DTNA(NM_032975.3):c.829G>A (p.G277S) - DTNA_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.877-8C>G r.(=) p.(=) - likely benign g.32400747C>G g.34820783C>G DTNA(NM_001198939.2):c.877-8C>G - DTNA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.933C>T r.(?) p.(Ser311=) - likely benign g.32400811C>T g.34820847C>T DTNA(NM_001198939.2):c.933C>T (p.S311=) - DTNA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.937C>T r.(?) p.(Arg313Cys) - VUS g.32400815C>T g.34820851C>T DTNA(NM_001198939.2):c.937C>T (p.R313C), DTNA(NM_001390.4):c.937C>T (p.R313C) - DTNA_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.955A>G r.(?) p.(Met319Val) - VUS g.32400833A>G - DTNA(NM_001198942.1):c.1A>G (p.M1?) - DTNA_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.978G>A r.(?) p.(Lys326=) - likely benign g.32400856G>A g.34820892G>A DTNA(NM_001198939.2):c.978G>A (p.K326=) - DTNA_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.999C>T r.(?) p.(Ile333=) - likely benign g.32400877C>T - DTNA(NM_001390.4):c.999C>T (p.I333=) - DTNA_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.1000G>A r.(?) p.(Val334Ile) - benign, likely benign g.32400878G>A g.34820914G>A DTNA(NM_001198939.1):c.1000G>A (p.V334M), DTNA(NM_001198939.2):c.1000G>A (p.V334M) - DTNA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.1002-4A>G r.spl? p.? - likely benign g.32405227A>G - DTNA(NM_001390.4):c.1002-4A>G - DTNA_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1011-1G>C r.spl? p.? - likely pathogenic g.32407556G>C g.34827592G>C DTNA(NM_001198939.2):c.1002-1G>C - DTNA_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 2 - c.1016C>T r.(?) p.(Pro339Leu) - VUS g.32407562C>T g.34827598C>T DTNA(NM_001198939.2):c.1007C>T (p.P336L) - DTNA_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.1018A>G r.(?) p.(Arg340Gly) - VUS g.32407564A>G g.34827600A>G DTNA(NM_001198939.2):c.1009A>G (p.R337G) - DTNA_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1075A>G r.(?) p.(Ser359Gly) - likely benign g.32407621A>G - DTNA(NM_001390.4):c.1075A>G (p.S359G) - DTNA_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1092G>A r.(?) p.(Arg364=) - likely benign g.32407638G>A g.34827674G>A DTNA(NM_001198939.2):c.1083G>A (p.R361=) - DTNA_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1094+1368G>C r.(=) p.(=) - likely benign g.32409008G>C g.34829044G>C DTNA(NM_001392.5):c.1098G>C (p.S366=) - DTNA_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1094+1371C>T r.(=) p.(=) - likely benign g.32409011C>T g.34829047C>T - - DTNA_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1094+1400A>G r.(=) p.(=) - VUS g.32409040A>G g.34829076A>G DTNA(NM_001392.5):c.*5A>G - DTNA_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1094+1768A>G r.(=) p.(=) - likely benign g.32409408A>G g.34829444A>G DTNA(NM_001198942.1):c.176A>G (p.H59R) - DTNA_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1094+1777T>A r.(=) p.(=) - likely benign g.32409417T>A g.34829453T>A DTNA(NM_001198942.1):c.185T>A (p.I62K) - DTNA_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.1094+1787C>T r.(=) p.(=) - likely benign g.32409427C>T g.34829463C>T DTNA(NM_001198942.1):c.195C>T (p.Y65=) - DTNA_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.1094+1805C>T r.(=) p.(=) - likely benign g.32409445C>T g.34829481C>T DTNA(NM_001198942.1):c.213C>T (p.H71=) - DTNA_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1094+1813G>A r.(=) p.(=) - likely pathogenic g.32409453G>A g.34829489G>A DTNA(NM_001198942.1):c.221G>A (p.R74H) - DTNA_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1095-8T>C r.(=) p.(=) - likely benign g.32418050T>C g.34838086T>C DTNA(NM_001198939.2):c.1086-10210T>C - DTNA_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1173-28C>T r.(=) p.(=) - VUS g.32418681C>T g.34838717C>T - - DTNA_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.1216C>T r.(?) p.(His406Tyr) - likely benign g.32418752C>T g.34838788C>T DTNA(NM_001390.4):c.1216C>T (p.H406Y) - DTNA_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 2 - c.1323G>A r.(?) p.(Ala441=) - likely benign g.32428317G>A g.34848353G>A DTNA(NM_001198939.2):c.1143G>A (p.A381=), DTNA(NM_001390.4):c.1323G>A (p.A441=) - DTNA_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.1344C>A r.(?) p.(Ser448=) - likely benign g.32428338C>A - DTNA(NM_001198939.2):c.1164C>A (p.S388=) - DTNA_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1350G>A r.(?) p.(Ser450=) - likely benign g.32428344G>A g.34848380G>A DTNA(NM_001198939.2):c.1170G>A (p.S390=) - DTNA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.1354-19T>C r.(=) p.(=) - benign, likely benign g.32431776T>C g.34851812T>C DTNA(NM_001198939.2):c.1174-19T>C - DTNA_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.1357C>A r.(?) p.(Pro453Thr) - benign g.32431798C>A g.34851834C>A DTNA(NM_001198939.2):c.1177C>A (p.P393T) - DTNA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1360C>G r.(?) p.(Pro454Ala) - likely benign g.32431801C>G g.34851837C>G DTNA(NM_001198939.2):c.1180C>G (p.P394A) - DTNA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1399G>A r.(?) p.(Asp467Asn) - VUS g.32431840G>A - DTNA(NM_001390.4):c.1399G>A (p.D467N) - DTNA_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1403C>T r.(?) p.(Ala468Val) - VUS g.32431844C>T - DTNA(NM_001390.5):c.1403C>T (p.A468V) - DTNA_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1451+17G>A r.(=) p.(=) - likely benign g.32431909G>A g.34851945G>A DTNA(NM_001198939.2):c.1271+17G>A - DTNA_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1522G>T r.(?) p.(Ala508Ser) - VUS g.32438319G>T - DTNA(NM_001390.5):c.1522G>T (p.A508S) - DTNA_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 4 - c.1571G>A r.(?) p.(Arg524His) ACMG VUS g.32443935G>A g.34863971G>A DTNA(NM_001198939.2):c.1391G>A (p.R464H), DTNA(NM_001390.4):c.1571G>A (p.R524H) - DTNA_000036 ACMG: PP3, BS2: class 3, VKGL data sharing initiative Nederland - - rs142108185 CLASSIFICATION record, Germline ? - - - - Andreas Laner, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.1590G>C r.(?) p.(Gln530His) - VUS g.32443954G>C g.34863990G>C DTNA(NM_001198939.2):c.1410G>C (p.Q470H) - DTNA_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1662+14G>A r.(=) p.(=) - benign g.32444040G>A g.34864076G>A DTNA(NM_001198939.2):c.1482+14G>A - DTNA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1662+2029T>C r.(=) p.(=) - likely benign g.32446055T>C g.34866091T>C DTNA(NM_001198939.2):c.1483-20T>C - DTNA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1662+2128G>A r.(=) p.(=) - benign g.32446154G>A g.34866190G>A DTNA(NM_032978.7):c.*29G>A - DTNA_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/., -?/. 3 - c.1663-10G>T r.(=) p.(=) - benign, likely benign g.32455193G>T g.34875229G>T DTNA(NM_001198939.2):c.1504-10G>T, DTNA(NM_001390.4):c.1663-10G>T - DTNA_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
-?/. 1 - c.1663-8C>T r.(=) p.(=) - likely benign g.32455195C>T g.34875231C>T DTNA(NM_001198939.2):c.1504-8C>T - DTNA_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1684C>T r.(?) p.(Arg562Cys) - VUS g.32455224C>T g.34875260C>T DTNA(NM_001198939.2):c.1525C>T (p.R509C) - DTNA_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1685G>A r.(?) p.(Arg562His) - likely benign g.32455225G>A g.34875261G>A DTNA(NM_001198939.2):c.1526G>A (p.R509H) - DTNA_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1690T>C r.(?) p.(Ser564Pro) - likely benign g.32455230T>C g.34875266T>C - - DTNA_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1726C>T r.(?) p.(Pro576Ser) - VUS g.32455266C>T - DTNA(NM_001390.5):c.1726C>T (p.P576S) - DTNA_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1740G>A r.(?) p.(Ala580=) - likely benign g.32455280G>A g.34875316G>A DTNA(NM_001198939.2):c.1581G>A (p.A527=) - DTNA_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1757C>T r.(?) p.(Pro586Leu) - VUS g.32455297C>T g.34875333C>T DTNA(NM_001198939.2):c.1598C>T (p.P533L) - DTNA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1767G>A r.(?) p.(Thr589=) - likely benign g.32455307G>A - DTNA(NM_001390.4):c.1767G>A (p.T589=) - DTNA_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1769C>T r.(?) p.(Pro590Leu) - likely benign g.32455309C>T g.34875345C>T DTNA(NM_001198939.2):c.1610C>T (p.P537L) - DTNA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1794G>A r.(?) p.(Gly598=) - likely benign g.32455334G>A g.34875370G>A DTNA(NM_001390.4):c.1794G>A (p.G598=) - DTNA_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.1822+8G>A r.(=) p.(=) - benign g.32455370G>A g.34875406G>A DTNA(NM_001198939.2):c.1663+8G>A - DTNA_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.1823-10T>C r.(=) p.(=) - likely benign g.32457673T>C g.34877709T>C DTNA(NM_001198939.2):c.1664-10T>C - DTNA_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.1837T>C r.(?) p.(Leu613=) - likely benign g.32457697T>C g.34877733T>C DTNA(NM_001198939.2):c.1678T>C (p.L560=), DTNA(NM_032975.3):c.1666T>C (p.L556=) - DTNA_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
-/. 1 - c.1912+7T>C r.(=) p.(=) - benign g.32457779T>C g.34877815T>C DTNA(NM_001198939.2):c.1753+7T>C - DTNA_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1937A>G r.(?) p.(Asn646Ser) - likely benign g.32459539A>G - DTNA(NM_001390.4):c.1937A>G (p.N646S) - DTNA_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.1958G>A r.(?) p.(Arg653Gln) - likely benign g.32459560G>A g.34879596G>A DTNA(NM_001198939.2):c.1799G>A (p.R600Q), DTNA(NM_001390.4):c.1958G>A (p.R653Q) - DTNA_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.1997A>G r.(?) p.(Glu666Gly) - VUS g.32459599A>G g.34879635A>G DTNA(NM_001198939.2):c.1838A>G (p.E613G) - DTNA_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.2072G>A r.(?) p.(Arg691His) - likely benign g.32459674G>A - DTNA(NM_001390.4):c.2072G>A (p.R691H) - DTNA_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2076C>T r.(?) p.(Gly692=) - likely benign g.32459678C>T g.34879714C>T DTNA(NM_001198939.2):c.1917C>T (p.G639=) - DTNA_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.2081+14G>A r.(=) p.(=) - benign, likely benign g.32459697G>A g.34879733G>A DTNA(NM_001198939.2):c.1922+14G>A - DTNA_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 2 - c.2087C>T r.(?) p.(Thr696Met) - VUS g.32462038C>T g.34882074C>T DTNA(NM_001198939.2):c.1928C>T (p.T643M), DTNA(NM_001390.5):c.2087C>T (p.T696M) - DTNA_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht
+?/. 1 20 c.2143G>T r.[2143g>u, 2215_2263del] p.[Val715Phe, Val739Alafs{Val715Phe}] - likely pathogenic g.32462094G>T g.34882130G>T - - DTNA_000002 consequence of variant uncertain PubMed: Requena 2015, Journal: Requena 2015 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.2195T>C r.(?) p.(Leu732Pro) - VUS g.32462146T>C g.34882182T>C - - DTNA_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.2224C>T r.(?) p.(Gln742*) - likely pathogenic g.32464701C>T - - - DTNA_000091 - - - - Unknown - - - - - Cordula Haas
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