Unique variants in the DOK7 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_173660.4 transcript reference sequence.

157 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     
-/. 2 - c.-30G>T r.(=), r.(?) p.(=) - benign g.3465073G>T g.3463346G>T - - DOK7_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Andreas Laner, VKGL-NL_Nijmegen
-/. 1 - c.-6C>G r.(?) p.(=) - benign g.3465097C>G g.3463370C>G - - DOK7_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/., -?/. 13 2, 4, 6, 7 c.? -, r.(?), r.[55_100del, 55_532del, 101_532del] p.?, p.Arg158Ala, p.Arg159Ala, p.Arg174Ala, p.fs*, p.Leu241Ala, p.Leu245Ala, p.Leu248Ala, p.Pro421*, 2 more items - NA, pathogenic g.? - 414C>T, 55_100del - DOK7_000000 expression cloning HEK 293T cells significantly reduced Tyr phoshorylation, 7 more items PubMed: Hamuro 2008, PubMed: Lashley 2010, PubMed: Selcen 2008 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Tom Winder
+/. 3 1 c.7G>A r.(?) p.(Glu3Lys), p.Glu3Lys - NA, pathogenic, pathogenic (recessive) g.3465109G>A g.3463382G>A - - DOK7_000052 1 more item PubMed: Cossins 2012 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Angela Abicht
?/. 1 1 c.32T>C r.(?) p.(Ala11Val) - VUS g.3465134T>C g.3463407T>C - - DOK7_000032 - - - - Germline - - - - - Tom Winder
-?/. 1 1 c.42G>C r.(?) p.(=) - likely benign g.3465144G>C g.3463417G>C R14R - DOK7_000075 - PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
+/. 2 1 c.48C>T r.0? p.0? - pathogenic (recessive) g.3465150C>T g.3463423C>T r.1-119del - DOK7_000058 exon trap cloning exon skipped PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
+?/. 2 1i c.54+12_54+23del r.spl p.(=) - likely pathogenic g.3465168_3465179del g.3463441_3463452del - - DOK7_000140 - - - - Germline yes - - - - Ana Topf
+/., +?/. 7 1i c.54+25_55-38del r.54_55ins54+1_55-1{54+14_55-38del}, r.spl?, r.[54_55ins54+1_55-1; 54+14_55-38del] p.?, p.Trp19Valfs*22, p.Trp19Valfs*23 - likely pathogenic, pathogenic g.3465181_3465195del g.3463454_3463468del 54+14_+28delGGGGGGGGGGGGCGC, 54+19_54+33delCGCGGGGGGGGGGGG, 54+22_36del, IVS1+14del15 - DOK7_000014 intron 1 inclusion; not in 200 control chromosomes; intron 1 inclusion 100 control cDNAs PubMed: BenAmmar 2010, PubMed: Lashley 2010, PubMed: Schara 2009, PubMed: Selcen 2008 - - Germline - - - - - Johan den Dunnen, Tom Winder
+/. 4 1i c.54+25_55+38del r.spl? p.? - pathogenic (recessive) g.3465181_3465271del - 54+25_39del15 - DOK7_000059 1 more item PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.54+32_54+33del r.(=) p.(=) - benign g.3465188_3465189del g.3463461_3463462del - - DOK7_000132 - - - rs71180187 Germline - - - - - Andreas Laner
+/. 1 1i c.55-2A>C r.55_65del p.Trp19Valfs*70 - pathogenic g.3465231A>C g.3463504A>C IVS1-2A>C - DOK7_000016 - PubMed: Selcen 2008 - - Germline - - - - - Tom Winder
+/. 2 2 c.91C>A r.(?) p.(Pro31Thr), p.Pro31Thr - NA, pathogenic (recessive) g.3465269C>A g.3463542C>A - - DOK7_000060 1 more item PubMed: Cossins 2012 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 3 1, 2 c.98C>T r.(?) p.(Ala33Val), p.Ala33Val - NA, pathogenic g.3465276C>T g.3463549C>T 98G>A - DOK7_000025 expression cloning, fails to induce MUSK (Tyr phosphorylation), 1 more item PubMed: Hamuro 2008, PubMed: Muller 2007 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Angela Abicht
+/. 2 2i_3 c.101-124_141del r.spl? p.? - pathogenic (recessive) g.3475009_3475173del g.3473282_3473446del - - DOK7_000061 - PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.101-26G>A r.(=) p.(=) - benign g.3475107G>A g.3473380G>A - - DOK7_000133 - - - - Germline - - - - - Andreas Laner
+/. 1 2i_3 c.101-24_141del r.spl? p.? - pathogenic g.3475109_3475173del g.3473382_3473446del - - DOK7_000050 - PubMed: Jephson 2010 - - Germline - - - - - Johan den Dunnen
?/. 1 2i c.101-19A>G r.spl p.(=) - VUS g.3475114A>G g.3473387A>G - - DOK7_000057 - - - - Unknown - - - - - Damien Sternberg
-/. 1 - c.101-11G>A r.(=) p.(=) - benign g.3475122G>A g.3473395G>A - - DOK7_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 2i c.101-1G>C r.spl p.? - pathogenic g.3475132G>C g.3473405G>C IVS2-1G>T - DOK7_000008 - PubMed: Beeson 2006, OMIM:var0008 - - Germline - - - - - Johan den Dunnen
+/. 1 2i c.101-1G>T r.spl p.? - pathogenic g.3475132G>T g.3473405G>T IVS2-1G>T - DOK7_000029 exon trap cloning suggests ex3 skipping PubMed: Muller 2007 - - Germline - - - - - Angela Abicht
+/. 1 3 c.101_331del r.(?) p.Asp34_Glu110del - NA g.3475133_3475363del g.3473406_3473636del - - DOK7_000000 1 more item PubMed: Selcen 2008 - - In vitro (cloned) - - - - - Tom Winder
+/. 1 3 c.101_532del r.(?) p.Asp34_Trp178delinsGly - NA g.3475133_3478269del g.3473406_3476542del - - DOK7_000000 pCMV-Tag2 (co-)expression cloning with MUSK in HEK293/C2C12 cells; failure to phosphorylate MUSK PubMed: Selcen 2008 - - In vitro (cloned) - - - - - Tom Winder
+/. 1 3 c.101_772del r.(?) p.Asp34_Gly257del - NA g.3475133_3491523del g.3473406_3489796del - - DOK7_000000 1 more item PubMed: Selcen 2008 - - In vitro (cloned) - - - - - Tom Winder
+/. 1 2i_6i c.(100+1_101-1)_(772+1_773-1)del r.101_772del p.fs* - pathogenic g.(3465279_3475132)_(3491524_3494485)del - 101_652del - DOK7_000012 1 more item PubMed: Selcen 2008 - - Germline - - - - - Tom Winder
+/., -/., -?/., ?/. 7 3 c.134C>T r.(?) p.(Ser45Leu) - benign, likely benign, pathogenic, VUS g.3475166C>T g.3473439C>T 134C>T, DOK7(NM_173660.4):c.134C>T (p.S45L) - DOK7_000026 VKGL data sharing initiative Nederland PubMed: BenAmmar 2010, PubMed: Cossins 2012, PubMed: Mihaylova 2010, PubMed: Muller 2007 - rs62272670 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Angela Abicht, Andreas Laner, VKGL-NL_Rotterdam
-?/. 1 3 c.160C>T r.(?) p.(Arg54Cys) - likely benign g.3475192C>T g.3473465C>T Arg54Tyr) - DOK7_000076 - PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
+/. 3 3 c.176_206delinsAG r.(?), r.?) p.(Leu59GlnfsTer24) - pathogenic, pathogenic (recessive) g.3475208_3475238delinsAG g.3473481_3473511delinsAG - - DOK7_000117 - PubMed: Cossins 2012, PubMed: Jephson 2010 - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 3 c.190G>A r.(?) p.(Gly64Arg) - pathogenic, VUS g.3475222G>A g.3473495G>A - - DOK7_000053 PolyPhen-2: prob. dam. (PSIC:0,995), Mut.Taster: disease causing - - - Germline - - - - - Angela Abicht, Andreas Laner
+/. 2 3 c.190G>M r.(?) p.(Gly64Arg) - pathogenic g.3475222G>M g.3473495G>M 190G>A? - DOK7_000039 - PubMed: Mihaylova 2010 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.220= r.(=) p.(Leu74=) - benign g.3475252T>C g.3473525= DOK7(NM_173660.4):c.220T>C (p.L74=) - DOK7_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 3 c.220C>T r.(?) p.(=) - benign, likely benign g.3475252= g.3473525C>T L74L - DOK7_000078 - PubMed: Cossins 2012 - rs4325970 Germline, Unknown ? 0.99 controls - - - Johan den Dunnen, Florian Erger
+/. 2 3 c.230C>T r.(?) p.(Thr77Met), p.Thr77Met - NA, pathogenic (recessive) g.3475262C>T g.3473535C>T - - DOK7_000062 1 more item PubMed: Cossins 2012 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
?/. 1 3 c.245G>T r.(?) p.(Cys82Phe) - VUS g.3475277G>T g.3473550G>T - - DOK7_000036 - - - - Germline - - - - - Tom Winder
-?/. 1 3 c.282C>T r.(?) p.(=) - likely benign g.3475314C>T g.3473587C>T H49H - DOK7_000077 - PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 3 c.296C>T r.(?) p.(Ala99Val) - likely benign, VUS g.3475328C>T g.3473601C>T - - DOK7_000079 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Cossins 2012, PubMed: Narang 2020, Journal: Narang 2020 - rs138010842 Germline - 1/2793 individuals - - - Johan den Dunnen, Mohammed Faruq
?/. 1 - c.308G>A r.(?) p.(Arg103Gln) - VUS g.3475340G>A g.3473613G>A - - DOK7_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 3 c.313C>T r.(?) p.(Arg105Cys) - VUS g.3475345C>T g.3473618C>T - - DOK7_000033 - - - - Germline - - - - - Tom Winder
+/. 3 3 c.325G>T r.(?) p.(Gly109Cys), p.Gly109Cys - NA, pathogenic, pathogenic (recessive) g.3475357G>T g.3473630G>T - - DOK7_000051 1 more item PubMed: Cossins 2012, PubMed: Jephson 2010 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 7 3i c.331+1G>T r.spl, r.[101_331del, 101_532del, 55_532del] p.?, p.[Asp34_Glu110del, fs*] - pathogenic g.3475364G>T g.3473637G>T IVS3+1G>T - DOK7_000018 not in 378 control chromosomes, unique exon 3 skip, not observed in 100 control cDNAs PubMed: Selcen 2008, PubMed: Vogt 2009 - - Germline - - - - - Johan den Dunnen, Tom Winder
-/. 1 - c.331+27G>A r.(=) p.(=) - benign g.3475390G>A g.3473663G>A - - DOK7_000136 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.332-112G>A r.(=) p.(=) - benign g.3477957G>A g.3476230G>A - - DOK7_000137 - - - rs34427903 Germline - - - - - Andreas Laner
-/. 1 - c.332-82G>A r.(=) p.(=) - benign g.3477987G>A g.3476260G>A - - DOK7_000138 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.332-69A>G r.(=) p.(=) - benign g.3478000A>G g.3476273A>G - - DOK7_000139 - - - rs2857985 Germline - - - - - Andreas Laner
-/. 1 - c.332-56delinsAT r.(=) p.(=) - benign g.3478013delinsAT g.3476286delinsAT - - DOK7_000105 - - - - Germline - - - - - Andreas Laner
-/. 1 - c.332-50T>C r.(=) p.(=) - benign g.3478019T>C g.3476292T>C - - DOK7_000106 - - - rs114112298 Germline - - - - - Andreas Laner
-/. 1 - c.332-49C>T r.(=) p.(=) - benign g.3478020C>T g.3476293C>T - - DOK7_000107 c.332-121_65del - - - Germline - - - - - Andreas Laner
-/. 2 - c.332-39T>C r.(=) p.(=) - benign g.3478030T>C g.3476303T>C - - DOK7_000108 - - - rs114948213 Germline - - - - - Andreas Laner
-/. 2 - c.332-38G>A r.(=) p.(=) - benign g.3478031G>A g.3476304G>A - - DOK7_000111 - - - rs115931214 Germline - - - - - Andreas Laner
-/. 1 - c.332-24C>A r.(=) p.(=) - benign g.3478045C>A g.3476318C>A - - DOK7_000112 - - - rs112637134 Germline - - - - - Andreas Laner
-/. 1 - c.332-18T>C r.(=) p.(=) - benign g.3478051T>C g.3476324T>C - - DOK7_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 4i c.332-1G>T r.spl p.? - likely pathogenic g.3478068G>T g.3476341G>T - - DOK7_000103 - - - - Germline - - - - - Tom Winder
+/. 1 4 c.346G>A r.(?) p.(Val116Met) - pathogenic g.3478083G>A g.3476356G>A - - DOK7_000042 - PubMed: BenAmmar 2010 - - Germline - - - - - Johan den Dunnen
+?/. 1 4 c.379G>A r.(?) p.(Gly127Ser) - likely pathogenic g.3478116G>A g.3476389G>A - - DOK7_000102 - - - - Germline - - - - - Tom Winder
+/. 3 4 c.396C>G r.(?) p.(His132Gln) - pathogenic g.3478133C>G g.3476406C>G 396C>G - DOK7_000022 - PubMed: Muller 2007 - - Germline - - - - - Johan den Dunnen, Angela Abicht
+/. 3 4 c.414C>T r.[=, 332_425del] p.[(=, Val111Glyfs*104)] - pathogenic (recessive) g.3478151C>T g.3476424C>T r.[=, 397_490del] - DOK7_000063 exon trap cloning PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
+/. 5 4 c.415G>C r.(?) p.(Val139Leu), p.Val139Leu - NA, pathogenic, pathogenic (recessive) g.3478152G>C g.3476425G>C - - DOK7_000049 1 more item PubMed: Cossins 2012, PubMed: Jephson 2010 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/., ?/. 3 4 c.437C>T r.(?) p.(Pro146Leu) - pathogenic, VUS g.3478174C>T g.3476447C>T - - DOK7_000034 VKGL data sharing initiative Nederland PubMed: BenAmmar 2010 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Tom Winder, VKGL-NL_Nijmegen
+/. 3 4 c.437del r.(?) p.(Pro146Argfs*100) - pathogenic (recessive) g.3478174del g.3476447del 437delC - DOK7_000064 - PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
+/. 1 4 c.470T>G r.(?) p.(Leu157Arg) - pathogenic g.3478207T>G g.3476480T>G - - DOK7_000043 - PubMed: BenAmmar 2010 - - Germline - - - - - Johan den Dunnen
+/. 6 4 c.473G>A r.(?) p.(Arg158Gln), p.Arg158Gln - NA, pathogenic, pathogenic (recessive) g.3478210G>A g.3476483G>A - - DOK7_000038 expression cloning HEK 293T cells, fails to bind MUSK, 2 more items PubMed: Cossins 2012, PubMed: Hamuro 2008, PubMed: Lashley 2010, PubMed: Palace 2007 - - Germline, In vitro (cloned) - - BpmI+ - - Johan den Dunnen
+/. 1 4 c.480C>A r.(?) p.(Tyr160*) - pathogenic g.3478217C>A g.3476490C>A - - DOK7_000040 - PubMed: Anderson 2007 - - Germline - - - - - Johan den Dunnen
+/., +?/. 5 4 c.481G>A r.(?) p.(Gly161Arg), p.Gly161Arg - likely pathogenic, NA, pathogenic (recessive) g.3478218G>A g.3476491G>A - - DOK7_000066 VKGL data sharing initiative Nederland, 1 more item PubMed: Cossins 2012 - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Johan den Dunnen, Tom Winder, VKGL-NL_Nijmegen
+/. 4 4 c.496G>A r.(?) p.(Gly166Arg), p.Gly166Arg - NA, pathogenic, pathogenic (recessive) g.3478233G>A g.3476506G>A - - DOK7_000047 1 more item PubMed: Cossins 2012, PubMed: Jephson 2010, PubMed: Lashley 2010 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 1 4 c.511G>C r.(?) p.(Gly171Arg) - pathogenic g.3478248G>C g.3476521G>C - - DOK7_000044 - PubMed: BenAmmar 2010 - - Germline - - - - - Johan den Dunnen
+/. 2 4 c.512G>A r.(?) p.(Gly171Asp), p.Gly171Asp - NA, pathogenic (recessive) g.3478249G>A g.3476522G>A - - DOK7_000068 1 more item PubMed: Cossins 2012 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen
+/. 2 4 c.513C>T r.512_532del p.(Gly172_Trp178del) - pathogenic (recessive) g.3478250C>T g.3476523C>T r.577_597del - DOK7_000069 exon trap cloning PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
+/., ?/. 2 4 c.514G>A r.(?) p.(Gly172Arg) - pathogenic, VUS g.3478251G>A g.3476524G>A - - DOK7_000045 VKGL data sharing initiative Nederland PubMed: BenAmmar 2010 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
-/. 1 - c.532+122C>A r.(=) p.(=) - benign g.3478391C>A g.3476664C>A - - DOK7_000113 - - - rs2857987 Germline - frequency up to 0,01% - - - Andreas Laner
+/. 2 4i, 5i c.533-37_533-11del r.spl? p.(=) - pathogenic (recessive) g.3487229_3487255del g.3485502_3485528del 533-37_533-11del27 - DOK7_000070 - PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.533-31A>G r.(=) p.(=) - benign g.3487235A>G g.3485508A>G - - DOK7_000114 - - - rs181786949 Germline - - - - - Andreas Laner
+/. 6 5 c.539G>C r.(?) p.(Gly180Ala), p.Gly180Ala - NA, pathogenic, pathogenic (recessive) g.3487272G>C g.3485545G>C 539G>C (593G>C), 593G>C - DOK7_000009 change in phosphotyrosine binding domain; no change in CHRNA, CHRNB, CHRND, CHRNE, RAPSN, COLQ, CHAT, 2 more items PubMed: Beeson 2006, OMIM:var0006, PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0006, 2 more items - - Germline, In vitro (cloned) - - BsaHI- - - Johan den Dunnen
+/. 1 5 c.539G>T r.(?) p.(Gly180Val) - pathogenic g.3487272G>T g.3485545G>T - - DOK7_000035 - PubMed: BenAmmar 2010 - - Germline - - - - - Johan den Dunnen
+/. 3 5 c.548_551del r.(?) p.(Phe183Cysfs*62) - pathogenic, pathogenic (recessive) g.3487281_3487284del g.3485554_3485557del 548_551delTCCT, 549_551delTCCT - DOK7_000010 not in 200 control chromosomes PubMed: Beeson 2006, PubMed: Palace 2007, OMIM:var0003, PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
+/. 2 5 c.555del r.(?), r.555del p.(Ser186Argfs*60), p.Ser186Argfs*60 - pathogenic g.3487288del g.3485561del 555delC - DOK7_000023 - PubMed: Muller 2007, PubMed: Schara 2009 - - Germline - - - - - Johan den Dunnen, Angela Abicht
+/. 1 5 c.561del r.(?) p.(Glu188Argfs*58) - pathogenic g.3487294del g.3485567del - - DOK7_000054 - - - - Germline - - - - - Angela Abicht
-/., -?/. 2 5 c.589G>A r.(?) p.(Asp197Asn) - benign, likely benign g.3487322G>A g.3485595G>A - - DOK7_000080 VKGL data sharing initiative Nederland PubMed: Cossins 2012 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
+/., +?/. 5 5 c.596del r.(?) p.(Ile199Thrfs*47), p.Ile199Thrfs*47 - NA, pathogenic, pathogenic (recessive) g.3487329del g.3485602del 596delT - DOK7_000013 c.1124_1127dupTGCC, 1 more item PubMed: Cossins 2012, PubMed: Jephson 2010, PubMed: Selcen 2008 - - Germline, In vitro (cloned) - - - - - Johan den Dunnen, Tom Winder, Andreas Laner
+/., +?/. 8 5 c.601C>T r.(?), r.601c>u p.(Arg201*), p.(Arg201Ter), p.Arg201* - NA, pathogenic, pathogenic (recessive) g.3487334C>T g.3485607C>T 601C>T, DOK7(NM_173660.4):c.601C>T (p.R201*) - DOK7_000011 expression cloning, fails to induce MUSK; accumulates in nucleus, 3 more items PubMed: Beeson 2006, PubMed: Schara 2009, OMIM:var0007, PubMed: Cossins 2012, PubMed: Hamuro 2008, 2 more items - - CLASSIFICATION record, Germline, In vitro (cloned) - - - - - Johan den Dunnen, Tom Winder, Angela Abicht, VKGL-NL_Utrecht
?/. 1 - c.641C>T r.(?) p.(Pro214Leu) - VUS g.3487374C>T g.3485647C>T DOK7(NM_173660.4):c.641C>T (p.(Pro214Leu)) - DOK7_000178 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.653-77C>G r.(=) p.(=) - VUS g.3491327C>G g.3489600C>G - - DOK7_000110 - - - - Germline - - - - - Andreas Laner
-?/. 1 - c.653-19A>C r.(=) p.(=) - likely benign g.3491385A>C g.3489658A>C DOK7(NM_001164673.1):c.642-19A>C (p.(=)) - DOK7_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.675G>C r.(?) p.(Ser225=) - likely benign g.3491426G>C g.3489699G>C DOK7(NM_001164673.1):c.664G>C (p.(Asp222His)) - DOK7_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 6i c.737-2A>G r.spl p.? - pathogenic g.3491486A>G - - - DOK7_000041 1 more item PubMed: BenAmmar 2010 - - Germline - - - - - Johan den Dunnen
-/., -?/. 3 6 c.753G>A r.(=), r.(?) p.(=), p.(Ala251=) - benign, likely benign g.3491504G>A g.3489777G>A A251A - DOK7_000081 VKGL data sharing initiative Nederland PubMed: Cossins 2012 - rs59932476 CLASSIFICATION record, Germline - - - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Nijmegen
+?/. 1 6i c.772+2_772+4delinsCCGGGCAGGCGGGCA r.spl p.? - likely pathogenic g.3491525_3491527delinsCCGGGCAGGCGGGCA g.3489798_3489800delinsCCGGGCAGGCGGGCA 772+2_772+4delinsCCGGGCAGGCGGGCA - DOK7_000104 - - - - Germline - - tlwinder - - Tom Winder
-/. 1 - c.773-67G>A r.(=) p.(=) - benign g.3494419G>A g.3492692G>A - - DOK7_000118 - - - rs62272676 Germline - - - - - Andreas Laner
-/. 1 - c.773-56G>A r.(=) p.(=) - benign g.3494430G>A g.3492703G>A - - DOK7_000119 (c.359-56G>A) - - rs6830812 Germline - - - - - Andreas Laner
-/. 1 - c.773-32del r.(=) p.(=) - benign g.3494454del g.3492727del - - DOK7_000120 - - - rs67004955 Germline - - - - - Andreas Laner
?/. 1 - c.781C>T r.(?) p.(Arg261Cys) - VUS g.3494494C>T g.3492767C>T - - DOK7_000188 conflicting interpretations of pathogenicity; 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142821143 Germline - 4/2795 individuals - - - Mohammed Faruq
-?/. 1 7 c.782G>A r.(?) p.(Arg261His) - likely benign g.3494495G>A g.3492768G>A - - DOK7_000082 - PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
-?/. 1 7 c.816C>G r.(?) p.(His272Gln) - likely benign g.3494529C>G g.3492802C>G - - DOK7_000083 - PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
-?/. 2 7 c.831C>T r.(?) p.(=), p.(Ala277=) - likely benign g.3494544C>T g.3492817C>T A277A, DOK7(NM_173660.4):c.831C>T (p.A277=) - DOK7_000084 VKGL data sharing initiative Nederland PubMed: Cossins 2012 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Utrecht
-?/. 1 - c.846C>T r.(?) p.(Thr282=) - likely benign g.3494559C>T g.3492832C>T DOK7(NM_001164673.1):c.*67C>T (p.(=)) - DOK7_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 7 c.849A>C r.(?) p.(=) - likely benign g.3494562A>C g.3492835A>C A283A - DOK7_000085 - PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
-/., -?/. 4 7 c.887A>G r.(?) p.(Gln296Arg) - benign, likely benign g.3494600A>G g.3492873A>G - - DOK7_000087 f:0,1->0,6, alt Gln 158Arg 53590, Exon 6, VKGL data sharing initiative Nederland PubMed: Cossins 2012 - rs6811423 CLASSIFICATION record, Germline, Unknown ? 0.24 controls - - - Johan den Dunnen, Andreas Laner, VKGL-NL_Nijmegen, Florian Erger
+?/. 1 7 c.894dup r.(?) p.(Pro299Alafs*2) - likely pathogenic g.3494607dup g.3492880dup 894dupG - DOK7_000030 - - - - Germline - - - - - Tom Winder
+/. 1 7 c.930_933del r.(?) p.(Met311Trpfs*144) ACMG pathogenic g.3494643_3494646del - 930_933delCATG - DOK7_000192 - no variant 2nd chromosome - - Germline - - - - - Anju Shukla
+/. 2 7 c.957del r.(?) p.(Lys320Serfs*136) - pathogenic g.3494670del g.3492943del 957delC - DOK7_000055, DOK7_000189 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794727884 Germline - 2/2776 individuals - - - Angela Abicht, Mohammed Faruq
-?/. 1 7 c.967C>T r.(?) p.(Arg323Cys) - likely benign g.3494680C>T g.3492953C>T - - DOK7_000086 - PubMed: Cossins 2012 - - Germline - - - - - Johan den Dunnen
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