Full data view for gene IQSEC2

Information The variants shown are described using the NM_001111125.1 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1i_15_ c.(?_737+6067)_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_52911287)_(53315010_?)dup - hg19 52911287_53315010dup - IQSEC2_000136 403kb duplication affecting TSPYL2, KDM5C, IQSEC2 PubMed: Moey 2015 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID Decipher27212/Pat2/FamPatIII1 PubMed: Moey 2015 4-generation family, 3 affected males, 4 unaffected carrier females M - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. _1i_15_ c.(?_737+6067)_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_52911287)_(53315010_?)dup - hg19 52911287_53315010dup - IQSEC2_000136 403kb duplication affecting TSPYL2, KDM5C, IQSEC2 PubMed: Moey 2015 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID FamPatIII4 PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1i_15_ c.(?_737+6067)_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_52911287)_(53315010_?)dup - hg19 52911287_53315010dup - IQSEC2_000136 403kb duplication affecting TSPYL2, KDM5C, IQSEC2 PubMed: Moey 2015 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID FamPatIII6 PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-201_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_52789239)_(53368927_?)dup - hg19 52789239_53368927dup - HUWE1_000176 579kb duplication affecting TSPYL2, KDM5C, IQSEC2 PubMed: Moey 2015 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID Decipher308362/Pat3 PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-201_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_52341517)_(53782896_?)dup - hg19 52341517_53782896dup - HUWE1_000176 1,441kb duplication affecting TSPYL2, KDM5C, IQSEC2, SMC1A, HUWE1 PubMed: Moey 2015 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID Pat4 PubMed: Moey 2015 - - - - - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-201_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_52987689)_(53712958_?)dup - hg19 52987689_53712958dup - HUWE1_000176 725kb duplication affecting TSPYL2, KDM5C, IQSEC2, SMC1A, HUWE1 PubMed: Froyen 2008, PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID A057 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-201_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_52982784)_(53712951_?)dup - hg19 52982784_53712951dup - HUWE1_000176 730kb duplication affecting TSPYL2, KDM5C, IQSEC2, SMC1A, HUWE1 PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID ON1 PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-201_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_53169907)_(54101252_?)dup - hg19 53169907_54101252dup - HUWE1_000176 931kb duplication affecting KDM5C, IQSEC2, SMC1A, HUWE1 PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID AU88848 PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-201_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_53198995)_(54237527_?)dup - hg19 53198995_54237527dup - HUWE1_000176 1038kb duplication affecting KDM5C, IQSEC2, SMC1A, HUWE1 PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID FTD PubMed: Froyen 2012, PubMed: Moey 2015 - - - - - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-201_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_53216303)_(54239670_?)dup - hg19 53216303_54239670dup - HUWE1_000176 1023kb duplication affecting KDM5C, IQSEC2, SMC1A, HUWE1 PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID F538 PubMed: Froyen 2012, PubMed: Moey 2015 - M - - - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-201_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_53220275)_(53981275_?)dup - hg19 53220275_53981275dup - HUWE1_000176 761kb duplication affecting KDM5C, IQSEC2, SMC1A, HUWE1 {PMID Gedeon 1994:7943039}, PubMed: Froyen 2008, PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID A009/MRX17 {PMID Gedeon 1994:7943039}, PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - - - Australia - - - - - 1 Johan den Dunnen
+/. _1i_15_ c.(?_737+5535)_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_52954520)_(53315542_?)dup - hg19 52954520_53315542dup - IQSEC2_000135 361kb duplication affecting TSPYL2, KDM5C, IQSEC2 PubMed: Moey 2015 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID Decipher306072/Pat1 PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. _1_15_ c.-201_*1336{2} r.? p.? Parent #1 - pathogenic (dominant) g.(?_52825617)_(53662768_?)dup - hg19 52825617_53662768dup - HUWE1_000176 837kb duplication affecting TSPYL2, KDM5C, IQSEC2, SMC1A, HUWE1 PubMed: Froyen 2008, PubMed: Froyen 2012 - - Germline/De novo (untested) - - - - - DNA arrayCGH - - ID Decipher249420/A119 PubMed: Froyen 2008, PubMed: Froyen 2012, PubMed: Moey 2015 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.3G>A r.(?) p.? Unknown - likely pathogenic g.53350319C>T g.53321121C>T IQSEC2(NM_001111125.2):c.3G>A (p.M1?) - IQSEC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.32C>T r.(?) p.(Pro11Leu) Unknown - VUS g.53350290G>A g.53321092G>A IQSEC2(NM_001111125.2):c.32C>T (p.P11L) - IQSEC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.169G>T r.(?) p.(Glu57*) Unknown - pathogenic g.53350153C>A g.53320955C>A - - IQSEC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188A>G r.(?) p.(Glu63Gly) Maternal (confirmed) - VUS g.53350134T>C g.53320936T>C - - IQSEC2_000017 - - - - Germline ? - - - - DNA SEQ-NG-I blood - ID P22 - - M no China - >02y07m - - - 1 Wenjuan Qiu
-?/. - c.188A>G r.(?) p.(Glu63Gly) Unknown - likely benign g.53350134T>C g.53320936T>C IQSEC2(NM_001111125.3):c.188A>G (p.E63G) - IQSEC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.211G>T r.(?) p.(Glu71*) Unknown - pathogenic g.53350111C>A g.53320913C>A IQSEC2(NM_001111125.2):c.211G>T (p.E71*) - IQSEC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.214C>T r.(?) p.(=) Unknown - likely benign g.53350108G>A - IQSEC2(NM_001111125.2):c.214C>T (p.L72=) - IQSEC2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241G>A r.(?) p.(Asp81Asn) Unknown - likely benign g.53350081C>T g.53320883C>T IQSEC2(NM_001111125.2):c.241G>A (p.D81N) - IQSEC2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343G>T r.(?) p.(Gly115Cys) Unknown - VUS g.53349979C>A g.53320781C>A IQSEC2(NM_001111125.2):c.343G>T (p.G115C) - IQSEC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.431C>T r.(?) p.(Thr144Ile) Unknown - likely benign g.53349891G>A g.53320693G>A IQSEC2(NM_001111125.2):c.431C>T (p.(Thr144Ile)) - IQSEC2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T r.(?) p.(=) Unknown - likely benign g.53349887G>A g.53320689G>A IQSEC2(NM_001111125.2):c.435C>T (p.T145=), IQSEC2(NM_001111125.3):c.435C>T (p.T145=) - IQSEC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T r.(?) p.(=) Unknown - likely benign g.53349887G>A g.53320689G>A IQSEC2(NM_001111125.2):c.435C>T (p.T145=), IQSEC2(NM_001111125.3):c.435C>T (p.T145=) - IQSEC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477G>A r.(?) p.(=) Unknown - benign g.53349845C>T g.53320647C>T IQSEC2(NM_001111125.3):c.477G>A (p.L159=) - IQSEC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.494C>T r.(?) p.(Ala165Val) Unknown - likely benign g.53349828G>A g.53320630G>A IQSEC2(NM_001111125.2):c.494C>T (p.(Ala165Val)) - IQSEC2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.505G>C r.(?) p.(Glu169Gln) Unknown - likely benign g.53349817C>G g.53320619C>G IQSEC2(NM_001111125.3):c.505G>C (p.E169Q) - IQSEC2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560G>A r.(?) p.(Gly187Asp) Unknown - VUS g.53349762C>T g.53320564C>T IQSEC2(NM_001111125.2):c.560G>A (p.G187D, p.(Gly187Asp)) - IQSEC2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560G>A r.(?) p.(Gly187Asp) Unknown - VUS g.53349762C>T g.53320564C>T IQSEC2(NM_001111125.2):c.560G>A (p.G187D, p.(Gly187Asp)) - IQSEC2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.566C>A r.(?) p.(Ser189*) Unknown - pathogenic (dominant) g.53349756G>T g.53320558G>T - - IQSEC2_000066 probably no protein produced; novel, heterozygous single nucleotide polymorphism in the female proband of one family. Predicted premature stop codon. Not found in ExAC, GnomAD or dbSNP150 project databases. Located 141 nucleotides from the exon 1-2 junction. Transcript predicted to be degraded via the nonsense mediated mRNA decay pathway. Rresulting in a loss of IQSEC2 protein.Samples were not available for further family members. Publication describing variant submitted; Nat Neurosci . - - Germline/De novo (untested) yes - - - - DNA SEQ-NG-I blood gDNA Whoel Exome Sequencing ID 01362 Cheryl Shoubridge - F ? Finland Finnish - - 68 - 1 Marie Shaw
-?/. - c.578G>C r.(?) p.(Gly193Ala) Unknown - likely benign g.53349744C>G g.53320546C>G IQSEC2(NM_001111125.2):c.578G>C (p.G193A, p.(Gly193Ala)), IQSEC2(NM_001111125.3):c.578G>C (p.G193A) - IQSEC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.578G>C r.(?) p.(Gly193Ala) Unknown - VUS g.53349744C>G g.53320546C>G IQSEC2(NM_001111125.2):c.578G>C (p.G193A, p.(Gly193Ala)), IQSEC2(NM_001111125.3):c.578G>C (p.G193A) - IQSEC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.578G>C r.(?) p.(Gly193Ala) Unknown - likely benign g.53349744C>G - IQSEC2(NM_001111125.2):c.578G>C (p.G193A, p.(Gly193Ala)), IQSEC2(NM_001111125.3):c.578G>C (p.G193A) - IQSEC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.669C>T r.(?) p.(=) Unknown - likely benign g.53349653G>A g.53320455G>A IQSEC2(NM_001111125.2):c.669C>T (p.T223=) - IQSEC2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.708-98T>A r.(=) p.(=) Unknown - benign g.53321204A>T g.53292022A>T IQSEC2(NM_001111125.3):c.708-98T>A - IQSEC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708-3C>T r.spl? p.? Unknown - likely benign g.53321109G>A - IQSEC2(NM_001111125.2):c.708-3C>T - IQSEC2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708A>G r.(?) p.(=) Unknown - likely benign g.53321106T>C g.53291924T>C IQSEC2(NM_001111125.3):c.708A>G (p.K236=) - IQSEC2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.737+2714_737+2715ins[NC_000004.11:g.183693432_183756173] r.spl p.(?) Unknown - pathogenic (dominant) g.53318362_53318363ins[NC_000004.11:g.183693432_183756173] - - - IQSEC2_000007 insertion of duplicated sequence from TENM3 gene PubMed: Gilissen 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - - ID - PubMed: Gilissen 2014 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.738-10999G>A r.(=) p.(=) Unknown - likely benign g.53296242C>T - IQSEC2(NM_001243197.1):c.127G>A (p.E43K) - IQSEC2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738-10976G>A r.(=) p.(=) Unknown - likely benign g.53296219C>T - IQSEC2(NM_001243197.1):c.150G>A (p.E50=) - IQSEC2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.738-1G>C r.spl? p.? Unknown - pathogenic g.53285244C>G g.53256062C>G IQSEC2(NM_001111125.3):c.738-1G>C - IQSEC2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.776C>T r.(?) p.(Ala259Val) Unknown - likely benign g.53285205G>A - IQSEC2(NM_001111125.2):c.776C>T (p.A259V) - IQSEC2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.783T>C r.(?) p.(=) Unknown - likely benign g.53285198A>G - IQSEC2(NM_001111125.2):c.783T>C (p.D261=) - IQSEC2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.804del r.(?) p.(Tyr269Thrfs*3) Unknown ACMG pathogenic (dominant) g.53285182del g.53256000del 804delC - IQSEC2_000108 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat48 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.889C>T r.(?) p.(Arg297Cys) Maternal (confirmed) ACMG VUS g.53285092G>A - - - IQSEC2_000127 ACMG: PM2_SUP, PP2, PP3 - VCV001215884.3 - Germline ? - - - - DNA SEQ-NG-I - - MRX1 154312 - - M no Germany - - - - - 1 Andreas Laner
+/. - c.928G>T r.(?) p.(Glu310*) Unknown - pathogenic g.53285053C>A g.53255871C>A - - IQSEC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3i c.999+341G>A r.(=) p.(=) Maternal (inferred) - likely benign g.53284641C>T g.53255459C>T - - IQSEC2_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. 4 c.1075C>T r.(?) p.(Arg359Cys) Maternal (confirmed) - pathogenic (dominant) g.53284038G>A g.53254856G>A C1075T - IQSEC2_000008 - PubMed: Tarpey 2009, PubMed: Shoubridge 2010, Journal: Shoubridge 20105, OMIM:var0004 - rs267607188 Germline yes - - - - DNA SEQ - - MRX;IDX - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 4 affected males, 2 unaffected heterozygous carrier females, 1 learning problems M no Australia - - - - - 4 Johan den Dunnen
-/. - c.1210G>A r.(?) p.(Ala404Thr) Unknown - benign g.53283903C>T g.53254721C>T IQSEC2(NM_001111125.3):c.1210G>A (p.A404T) - IQSEC2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1399C>T r.(?) p.(Gln467*) Both (homozygous) - pathogenic (dominant) g.53283714G>A g.53254532G>A - - IQSEC2_000068 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
?/. - c.1401+2T>G r.spl? p.? Unknown - likely pathogenic (dominant) g.53283710A>C - - - IQSEC2_000128 - - - - De novo - - - - - DNA SEQ-NG - WES ID, MRX1 223P - - F no Spain - - - - - 1 Alejandro Brea-Fernández
-?/. 4i c.1401+200del r.(=) p.(=) Unknown - likely benign g.53283512del g.53254330del - - IQSEC2_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 4i c.1402-65C>T r.(=) p.(=) Maternal (inferred) - likely benign g.53280421G>A g.53251239G>A - - IQSEC2_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 4i c.1402-65C>T r.(=) p.(=) Maternal (inferred) - likely benign g.53280421G>A g.53251239G>A - - IQSEC2_000010 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1402-9dup r.(=) p.(=) Unknown - likely benign g.53280371dup g.53251189dup IQSEC2(NM_001111125.2):c.1402-8dupC, IQSEC2(NM_001111125.3):c.1402-8dupC - IQSEC2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1402-9dup r.(=) p.(=) Unknown - likely benign g.53280371dup - IQSEC2(NM_001111125.2):c.1402-8dupC, IQSEC2(NM_001111125.3):c.1402-8dupC - IQSEC2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1417G>A r.(?) p.(Glu473Lys) Unknown - VUS g.53280341C>T g.53251159C>T IQSEC2(NM_001111125.2):c.1417G>A (p.E473K) - IQSEC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1417G>A r.(?) p.(Glu473Lys) Unknown - VUS g.53280341C>T - IQSEC2(NM_001111125.2):c.1417G>A (p.E473K) - IQSEC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1485G>T r.(?) p.(Gln495His) Unknown - likely benign g.53280273C>A g.53251091C>A IQSEC2(NM_001111125.2):c.1485G>T (p.Q495H) - IQSEC2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1510del r.(?) p.(Gln504Serfs*103) Unknown - pathogenic (dominant) g.53280248del g.53251066del 1510delC - IQSEC2_000069 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
-?/. - c.1592G>C r.(?) p.(Arg531Pro) Unknown - likely benign g.53280166C>G - IQSEC2(NM_001111125.2):c.1592G>C (p.R531P), IQSEC2(NM_001111125.3):c.1592G>C (p.R531P) - IQSEC2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1592G>C r.(?) p.(Arg531Pro) Unknown - VUS g.53280166C>G - IQSEC2(NM_001111125.2):c.1592G>C (p.R531P), IQSEC2(NM_001111125.3):c.1592G>C (p.R531P) - IQSEC2_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1625G>A r.(?) p.(Arg542Gln) Unknown - likely benign g.53280133C>T g.53250951C>T IQSEC2(NM_001111125.2):c.1625G>A (p.R542Q) - IQSEC2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1653C>T r.(?) p.(=) Unknown - likely benign g.53280105G>A - IQSEC2(NM_001111125.2):c.1653C>T (p.L551=) - IQSEC2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1800dup r.(?) p.(Asp601*) Unknown - pathogenic g.53279958dup g.53250776dup - - IQSEC2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1813_1814del r.(?) p.(Asp605Profs*3) Maternal (confirmed) - pathogenic (dominant) g.53279944_53279945del g.53250762_53250763del 1813_1814delGA - IQSEC2_000101 - - - - Germline ? - - - - DNA SEQ-NG-I - gene panel ClearSeq Inherited Disease (Agilent Technologies) epilepsy - 2-generation family, 2 affected - M no Czech Republic white >09y - - antiepileptic drug therapy 2 Marketa Wayhelova
+?/. 5 c.1813_1814del r.(?) p.(Asp605Profs*3) Maternal (confirmed) - pathogenic g.53279944_53279945del g.53250762_53250763del - - IQSEC2_000101 - - - - Germline - - - - - DNA SEQ-NG-I - gene panel ClearSeq Inherited Disease (Agilent Technologies) epilepsy - - brother of 00274290 M no Czech Republic white >02y - - antiepileptic drug therapy 1 Marketa Wayhelova
-?/. - c.1836C>T r.(?) p.(Arg612=) Unknown - likely benign g.53279922G>A - IQSEC2(NM_001111125.2):c.1836C>T (p.R612=) - IQSEC2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1859del r.(?) p.(Val620Glyfs*13) Unknown - pathogenic g.53279899del g.53250717del IQSEC2(NM_001111125.3):c.1859delT (p.V620Gfs*13) - IQSEC2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2011G>A r.(?) p.(Gly671Arg) Unknown - VUS g.53279747C>T - IQSEC2(NM_001111125.3):c.2011G>A (p.G671R) - IQSEC2_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2052_2053del r.(?) p.(Cys684*) Parent #1 - pathogenic g.53279706_53279707del g.53250524_53250525del - - IQSEC2_000103 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044889 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.2052_2053del r.(?) p.(Cys684*) Unknown ACMG pathogenic (dominant) g.53279706_53279707del g.53250524_53250525del - - IQSEC2_000103 - PubMed: Helbig 2016 - - De novo - - - - - DNA SEQ-NG - WES seizures Pat47 PubMed: Helbig 2016 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.2139C>T r.(?) p.(=) Unknown - likely benign g.53279619G>A g.53250437G>A IQSEC2(NM_001111125.2):c.2139C>T (p.S713=) - IQSEC2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2174C>T r.(?) p.(Pro725Leu) Unknown - likely benign g.53279584G>A - IQSEC2(NM_001111125.2):c.2174C>T (p.P725L) - IQSEC2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.2203C>T r.(?) p.(Gln735*) Unknown - pathogenic (dominant) g.53279555G>A g.53250373G>A - - IQSEC2_000016 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - - EE - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - - - - 1 Johan den Dunnen
+/. - c.2272C>T r.(?) p.(Arg758*) Unknown - pathogenic g.53279486G>A g.53250304G>A IQSEC2(NM_001111125.3):c.2272C>T (p.R758*) - IQSEC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.2273G>A r.(?) p.(Arg758Gln) Parent #1 - pathogenic (dominant) g.53279485C>T g.53250303C>T NM_015075.1:c.2264G>A (R755Q) - IQSEC2_000001 found once, non-recurrent change; variant description was incorrect (DNA/protein did not match) PubMed: Tarpey 2009, PubMed: Shoubridge 2010, Journal: Shoubridge 20105, OMIM:var0003 - rs267607189 Germline ? 1/208 cases - - - DNA SEQ - - MRX;IDX - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 8 affected males, 7 unaffected heterozygous carrier females M no United States ? - - - - 8 Johan den Dunnen
+?/. - c.2278G>A r.(?) p.(Gly760Ser) Unknown - likely pathogenic g.53279480C>T g.53250298C>T IQSEC2(NM_001111125.3):c.2278G>A (p.G760S) - IQSEC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2278G>A r.(?) p.(Gly760Ser) Unknown - likely pathogenic g.53279480C>T g.53250298C>T IQSEC2(NM_001111125.3):c.2278G>A (p.G760S) - IQSEC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2297+14G>A r.(=) p.(=) Unknown - benign g.53279447C>T g.53250265C>T IQSEC2(NM_001111125.3):c.2297+14G>A - IQSEC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5i c.2297+228C>G r.(=) p.(=) Maternal (inferred) - likely benign g.53279233G>C g.53250051G>C - - IQSEC2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 5i c.2297+228C>G r.(=) p.(=) Maternal (inferred) - likely benign g.53279233G>C g.53250051G>C - - IQSEC2_000011 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 5i c.2298-258A>G r.(=) p.(=) Maternal (inferred) - likely benign g.53278322T>C g.53249140T>C - - IQSEC2_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 5i c.2298-258A>G r.(=) p.(=) Maternal (inferred) - likely benign g.53278322T>C g.53249140T>C - - IQSEC2_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.2298-2A>G r.spl? p.? Unknown - pathogenic g.53278066T>C - IQSEC2(NM_001111125.3):c.2298-2A>G - IQSEC2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2317C>T r.(?) p.(Gln773*) Unknown ACMG pathogenic g.53278045G>A g.53248863G>A - - IQSEC2_000109 ACMG PVS1, PS1, PM2, PM6 PubMed: Johannesen 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - candidate gene panel epilepsy Pat12 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - - - - 1 Johan den Dunnen
+/. - c.2317C>T r.(?) p.(Gln773Ter) Unknown - pathogenic g.53278045G>A - IQSEC2(NM_001111125.2):c.2317C>T (p.Q773*) - IQSEC2_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2322T>C r.(?) p.(=) Unknown - likely benign g.53278040A>G g.53248858A>G IQSEC2(NM_001111125.3):c.2322T>C (p.Y774=) - IQSEC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2329G>A r.(?) p.(Glu777Lys) Unknown - VUS g.53278033C>T - IQSEC2(NM_001111125.2):c.2329G>A (p.E777K) - IQSEC2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2333G>A r.(?) p.(Arg778Gln) Unknown - VUS g.53278029C>T - IQSEC2(NM_001111125.2):c.2333G>A (p.R778Q) - IQSEC2_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2377C>A r.(?) p.(Leu793Met) Unknown - VUS g.53277985G>T g.53248803G>T IQSEC2(NM_001111125.2):c.2377C>A (p.L793M) - IQSEC2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2383C>T r.(?) p.(Arg795Trp) Unknown - VUS g.53277979G>A - - - IQSEC2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2401C>T r.(?) p.(Gln801Ter) Unknown - pathogenic g.53277961G>A - - - IQSEC2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.2402A>C r.(?) p.(Gln801Pro) Parent #1 - pathogenic (dominant) g.53277960T>G g.53248778T>G NM_015075.1:c.2393A>C (Q798P) - IQSEC2_000002 found once, non-recurrent change; variant description was incorrect (DNA/protein do not match) PubMed: Tarpey 2009, PubMed: Shoubridge 2010, Journal: Shoubridge 20105, OMIM:var0002 - rs267607187 Germline yes 1/208 cases - - - DNA SEQ - - MRX;IDX - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 12 affected males, 5 unaffected heterozygous carrier females, 2 with learning problems M no Australia 8 - - - - 1 Johan den Dunnen
+/. - c.2465_2466del r.(?) p.(Val822Glyfs*3) Unknown - pathogenic g.53277416_53277417del - IQSEC2(NM_001111125.3):c.2465_2466delTG (p.V822Gfs*3) - IQSEC2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2481C>T r.(?) p.(=) Unknown - benign g.53277397G>A g.53248215G>A IQSEC2(NM_001111125.2):c.2481C>T (p.D827=) - IQSEC2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2507C>T r.(?) p.(Ala836Val) Unknown - VUS g.53277371G>A g.53248189G>A - - IQSEC2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2508G>A r.(?) p.(=) Unknown - likely benign g.53277370C>T g.53248188C>T IQSEC2(NM_001111125.2):c.2508G>A (p.A836=), IQSEC2(NM_001111125.3):c.2508G>A (p.A836=) - IQSEC2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2508G>A r.(?) p.(=) Unknown - likely benign g.53277370C>T g.53248188C>T IQSEC2(NM_001111125.2):c.2508G>A (p.A836=), IQSEC2(NM_001111125.3):c.2508G>A (p.A836=) - IQSEC2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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