Full data view for gene IQSEC2

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

130 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     
+?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.169G>T r.(?) p.(Glu57*) Unknown - pathogenic g.53350153C>A g.53320955C>A - - IQSEC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.188A>G r.(?) p.(Glu63Gly) Maternal (confirmed) - VUS g.53350134T>C g.53320936T>C - - IQSEC2_000017 - - - - Germline ? - - 0 - DNA SEQ-NG-I blood - ID P22 - - M no China - >02y07m 0 - - 1 Wenjuan Qiu
-?/. - c.188A>G r.(?) p.(Glu63Gly) Unknown - likely benign g.53350134T>C g.53320936T>C IQSEC2(NM_001111125.2):c.188A>G (p.E63G) - IQSEC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T r.(?) p.(=) Unknown - likely benign g.53349887G>A g.53320689G>A IQSEC2(NM_001111125.2):c.435C>T (p.T145=) - IQSEC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T r.(?) p.(=) Unknown - likely benign g.53349887G>A g.53320689G>A IQSEC2(NM_001111125.2):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_001111125.2):c.477G>A (p.L159=) - IQSEC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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_001111125.2):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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 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 - - 0 - DNA SEQ-NG-I blood gDNA Whoel Exome Sequencing ID 01362 Cheryl Shoubridge - F ? Finland Finnish - 0 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.(Gly193Ala), p.G193A) - IQSEC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.578G>C r.(?) p.(Gly193Ala) Unknown - VUS g.53349744C>G g.53320546C>G IQSEC2(NM_001111125.2):c.578G>C (p.(Gly193Ala), p.G193A) - IQSEC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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_001111125.2):c.708-98T>A - IQSEC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.708A>G r.(?) p.(=) Unknown - likely benign g.53321106T>C g.53291924T>C IQSEC2(NM_001111125.2):c.708A>G (p.K236=) - IQSEC2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i c.737+2714_737+2715ins(62000) r.spl p.(?) Unknown - pathogenic (dominant) g.53318362_53318363ins(chr4:g.183693432_183756173) - - - IQSEC2_000007 insertion of duplicated sequence from TENM3 gene Variant Error [ESYNTAX]: This genomic variant has an error (char 35: Syntax error). Please fix this entry and then remove this message. PubMed: Gilissen 2014 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID - PubMed: Gilissen 2014 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.738-10984_738-10982del r.(=) p.(=) Unknown - benign g.53296240_53296242del g.53267058_53267060del IQSEC2(NM_001243197.2):c.142_144delGAG (p.E48del) - IQSEC2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.738-1G>C r.spl? p.? Unknown - pathogenic g.53285244C>G g.53256062C>G IQSEC2(NM_001111125.2):c.738-1G>C - IQSEC2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.804del r.(?) p.(Tyr269Thrfs*3) Unknown ACMG pathogenic (dominant) g.53285182del g.53256000del 804delC - IQSEC2_000108 - PubMed: Helbig 2016 - - De novo - - - 0 - DNA SEQ-NG - WES seizures Pat48 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
+/. - c.928G>T r.(?) p.(Glu310*) Unknown - pathogenic g.53285053C>A g.53255871C>A - - IQSEC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3i c.999+341G>A r.(=) p.(=) Maternal (inferred) - likely benign g.53284641C>T g.53255459C>T - - IQSEC2_000009 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 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 - - 0 - 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 - - 0 - - 4 Johan den Dunnen
-/. - c.1210G>A r.(?) p.(Ala404Thr) Unknown - benign g.53283903C>T g.53254721C>T IQSEC2(NM_001111125.2):c.1210G>A (p.A404T) - IQSEC2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1399C>T r.(?) p.(Gln467*) Both (homozygous) - pathogenic (dominant) g.53283714G>A g.53254532G>A - - IQSEC2_000068 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - M - - - - 0 - - 1 IMGAG
-?/. 4i c.1401+200del r.(=) p.(=) Unknown - likely benign g.53283512del g.53254330del - - IQSEC2_000006 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 4i c.1402-65C>T r.(=) p.(=) Maternal (inferred) - likely benign g.53280421G>A g.53251239G>A - - IQSEC2_000010 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 4i c.1402-65C>T r.(=) p.(=) Maternal (inferred) - likely benign g.53280421G>A g.53251239G>A - - IQSEC2_000010 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.1402-9dup r.(=) p.(=) Unknown - likely benign g.53280371dup g.53251189dup IQSEC2(NM_001111125.2):c.1402-8dupC, IQSEC2(NM_001111125.2):c.1402-9dupC - IQSEC2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1402-9dup r.(=) p.(=) Unknown - - g.53280371dup - IQSEC2(NM_001111125.2):c.1402-8dupC, IQSEC2(NM_001111125.2):c.1402-9dupC - IQSEC2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1417G>A r.(?) p.(Glu473Lys) Unknown - VUS g.53280341C>T g.53251159C>T - - IQSEC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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 - - - 0 - DNA SEQ - - ? - - - F - - - - 0 - - 1 IMGAG
-?/. - 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 - - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1813_1814del r.(?) p.(Asp605Profs*3) Maternal (confirmed) - pathogenic (dominant) g.53279944_53279945del g.53250762_53250763del 1813_1814delGA - IQSEC2_000101 - - - - Germline ? - - 0 - DNA SEQ-NG-I - gene panel ClearSeq Inherited Disease (Agilent Technologies) epilepsy - 2-generation family, 2 affected - M no Czech Republic white >09y 0 - 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 - - - 0 - DNA SEQ-NG-I - gene panel ClearSeq Inherited Disease (Agilent Technologies) epilepsy - - brother of 00274290 M no Czech Republic white >02y 0 - antiepileptic drug therapy 1 Marketa Wayhelova
+/. - c.1859del r.(?) p.(Val620Glyfs*13) Unknown - pathogenic g.53279899del g.53250717del IQSEC2(NM_001111125.2):c.1859delT (p.V620Gfs*13) - IQSEC2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2052_2053del r.(?) p.(Cys684*) Parent #1 - pathogenic g.53279706_53279707del g.53250524_53250525del - - IQSEC2_000103 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs797044889 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 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 - - - 0 - DNA SEQ-NG - WES seizures Pat47 PubMed: Helbig 2016 - - - United States - - 0 - - 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 - - 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 - - - 0 - DNA SEQ, SEQ-NG - - EE - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - F - - - - 0 - - 1 Johan den Dunnen
+/. - c.2272C>T r.(?) p.(Arg758*) Unknown - pathogenic g.53279486G>A g.53250304G>A IQSEC2(NM_001111125.2):c.2272C>T (p.R758*) - IQSEC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 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 - 0 - 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 ? - 0 - - 8 Johan den Dunnen
+?/. - c.2278G>A r.(?) p.(Gly760Ser) Unknown - likely pathogenic g.53279480C>T g.53250298C>T IQSEC2(NM_001111125.2):c.2278G>A (p.G760S) - IQSEC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2278G>A r.(?) p.(Gly760Ser) Unknown - likely pathogenic g.53279480C>T g.53250298C>T IQSEC2(NM_001111125.2):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_001111125.2):c.2297+14G>A - IQSEC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 5i c.2297+228C>G r.(=) p.(=) Maternal (inferred) - likely benign g.53279233G>C g.53250051G>C - - IQSEC2_000011 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 5i c.2297+228C>G r.(=) p.(=) Maternal (inferred) - likely benign g.53279233G>C g.53250051G>C - - IQSEC2_000011 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 5i c.2298-258A>G r.(=) p.(=) Maternal (inferred) - likely benign g.53278322T>C g.53249140T>C - - IQSEC2_000012 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 5i c.2298-258A>G r.(=) p.(=) Maternal (inferred) - likely benign g.53278322T>C g.53249140T>C - - IQSEC2_000012 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.2298-2A>G r.spl? p.? Unknown - pathogenic g.53278066T>C g.53248884T>C IQSEC2(NM_001111125.2):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 - - - 0 - DNA SEQ, SEQ-NG - candidate gene panel epilepsy Pat12 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - 0 - - 1 Johan den Dunnen
-?/. - c.2322T>C r.(?) p.(=) Unknown - likely benign g.53278040A>G g.53248858A>G IQSEC2(NM_001111125.2):c.2322T>C (p.Y774=) - IQSEC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 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 - 0 - 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 - 0 - - 1 Johan den Dunnen
-/. - 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(NM_001111125.2):c.2507C>T (p.A836V) - IQSEC2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2507C>T r.(?) p.(Ala836Val) Unknown - VUS g.53277371G>A g.53248189G>A IQSEC2(NM_001111125.2):c.2507C>T (p.A836V) - IQSEC2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2507C>T r.(?) p.(Ala836Val) Unknown - likely pathogenic g.53277371G>A g.53248189G>A IQSEC2(NM_001111125.2):c.2507C>T (p.A836V) - 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_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_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2534G>A r.(?) p.(Arg845Gln) Unknown - VUS g.53277344C>T g.53248162C>T IQSEC2(NM_001111125.2):c.2534G>A (p.R845Q) - IQSEC2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2534G>A r.(?) p.(Arg845Gln) Unknown - likely pathogenic g.53277344C>T g.53248162C>T IQSEC2(NM_001111125.2):c.2534G>A (p.R845Q) - IQSEC2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2549C>A r.(?) p.(Ala850Asp) Unknown - VUS g.53277329G>T g.53248147G>T - - IQSEC2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2571C>A r.(?) p.(=) Unknown - likely benign g.53277307G>T g.53248125G>T IQSEC2(NM_001111125.2):c.2571C>A (p.I857=) - IQSEC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2582G>C r.(?) p.(Ser861Thr) Unknown ACMG pathogenic (dominant) g.53277296C>G g.53248114C>G - - IQSEC2_000107 - PubMed: Helbig 2016 - - De novo - - - 0 - DNA SEQ-NG - WES seizures Pat46 PubMed: Helbig 2016 - - - United States - - 0 - - 1 Johan den Dunnen
+/. 8 c.2587C>T r.(?) p.(Arg863Trp) Parent #1 - pathogenic (dominant) g.53276313G>A g.53247131G>A NM_015075.1:c.2578C>T (R860W) - IQSEC2_000003 found once, non-recurrent change; variant description incorrect (DNA/protein did not match) PubMed: Tarpey 2009, PubMed: Shoubridge 2010, Journal: Shoubridge 20105, OMIM:var0001 - rs267607186 Germline yes 1/208 cases - 0 - DNA SEQ - - MRX;IDX - PubMed: Shoubridge 2010, Journal: Shoubridge 20105 5-generation family, 12 affected males, 8 unaffected heterozygous carrier females M no Australia - - 0 - - 12 Johan den Dunnen
+/? 8 c.2662dup r.(?) p.(Ile888Asnfs*16) Unknown - pathogenic (dominant) g.53276238dup g.53247056dup - - IQSEC2_000004 - - - - De novo ? - - 0 - DNA SEQ - - MRX;IDX - - - ? - ? (unknown) ? - 0 - - 1 Andreas Tzschach
+?/+? 8 c.2679_2680insA r.(?) p.(Asp894Argfs*10) Unknown - likely pathogenic (dominant) g.53276220_53276221insT g.53247038_53247039insT - - IQSEC2_000015 - Ewans et al submitted to Oct EJHG 2016 - - Unknown yes - - 0 - DNA SEQ-NG blood gDNA - EE - Ewans et al EJHG submitted 2016 - F no (Australia) - - 0 - - 1 Cheryl Shoubridge
+/. - c.2710C>T r.(?) p.(Arg904*) Unknown - pathogenic g.53276190G>A g.53247008G>A IQSEC2(NM_001111125.2):c.2710C>T (p.R904*) - IQSEC2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2750-19_2750-8del r.(=) p.(=) Unknown - likely benign g.53272666_53272677del g.53243484_53243495del IQSEC2(NM_001111125.2):c.2750-19_2750-8del (p.(=)) - IQSEC2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2776C>T r.(?) p.(Arg926*) Unknown ACMG pathogenic g.53272627G>A g.53243445G>A - - IQSEC2_000102 ACMG: PVS1,PM2; Allou et al. 2017. Clin Genet 91: 431; Mignot et al. 2019. Genet Med 21: 837-49 - - - Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
-?/. - c.2831A>G r.(?) p.(Asn944Ser) Unknown - likely benign g.53272572T>C g.53243390T>C IQSEC2(NM_001111125.2):c.2831A>G (p.N944S) - IQSEC2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 9i c.2890-56A>C r.(=) p.(=) Maternal (inferred) - likely benign g.53271147T>G g.53241965T>G - - IQSEC2_000013 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 9i c.2890-56A>C r.(=) p.(=) Maternal (inferred) - likely benign g.53271147T>G g.53241965T>G - - IQSEC2_000013 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.2983C>T r.(?) p.(Arg995Trp) Unknown - pathogenic (dominant) g.53270998G>A g.53241816G>A - - IQSEC2_000106 - PubMed: Srivastava 2018 - - De novo - - - 0 - DNA RT-PCR, SEQ, SEQ-NG - WES ID Pat7 PubMed: Srivastava 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - 0 - - 1 Johan den Dunnen
?/. - c.3015+4T>G r.spl? p.? Unknown - VUS g.53270962A>C g.53241780A>C IQSEC2(NM_001111125.2):c.3015+4T>G - IQSEC2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3015+9A>G r.(=) p.(=) Unknown - likely benign g.53270957T>C g.53241775T>C IQSEC2(NM_001111125.2):c.3015+9A>G - IQSEC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3015+9A>G r.(=) p.(=) Unknown - likely benign g.53270957T>C g.53241775T>C IQSEC2(NM_001111125.2):c.3015+9A>G - IQSEC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3034A>G r.(?) p.(Lys1012Glu) Maternal (inferred) - likely pathogenic g.53268458T>C g.53239276T>C IQSEC2 K807E - IQSEC2_000067 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamN83 PubMed: Hu 2016 family, 1 affected M - - - - 0 - - 1 Johan den Dunnen
?/. - c.3082G>A r.(?) p.(Val1028Met) Unknown - VUS g.53268410C>T g.53239228C>T IQSEC2(NM_001111125.2):c.3082G>A (p.V1028M) - IQSEC2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3082G>A r.(?) p.(Val1028Met) Unknown - likely benign g.53268410C>T g.53239228C>T IQSEC2(NM_001111125.2):c.3082G>A (p.V1028M) - IQSEC2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3097C>T r.(?) p.(Gln1033*) Unknown - pathogenic (recessive) g.53268395G>A g.53239213G>A - - IQSEC2_000105 - PubMed: Redin 2014 - - De novo - - - 0 - DNA SEQ, SEQ-NG - 231-gene ID panel ID APN-68 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - 0 - - 1 Johan den Dunnen
+/. 11i c.3116-3_3116-2del r.3116_3194del p.Tyr1039Serfs*37 Unknown - pathogenic (dominant) g.53267492_53267493del g.53238310_53238311del 3116-2delCA g.8790211delCA - IQSEC2_000018 - PubMed: Madrigal 2016 - - Germline - - - 0 - DNA, RNA PCRq, RT-PCR, SEQ-NG-I - - ID 26733290-Fam PubMed: Madrigal 2016 3-generation family, 3 affected males, 3 unaffected heterozygous carrier females M - Spain - - 0 - - 3 Irene Madrigal
+?/? 12 c.3163C>T r.(?) p.(Arg1055*) Unknown - likely pathogenic (dominant) g.53267441G>A g.53238259G>A - - IQSEC2_000005 - - - - Unknown ? - - 0 - DNA SEQ - - MRX;IDX - - - F - ? (unknown) ? - 0 - - 1 Andreas Tzschach
+/. - c.3163C>T r.(?) p.(Arg1055*) Unknown - pathogenic g.53267441G>A g.53238259G>A - - IQSEC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3274G>C r.(?) p.(Glu1092Gln) Unknown - likely benign g.53267330C>G g.53238148C>G - - IQSEC2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 12i c.3278-158A>G r.(=) p.(=) Maternal (inferred) - likely benign g.53265835T>C g.53236653T>C - - IQSEC2_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. 12i c.3278-158A>G r.(=) p.(=) Maternal (inferred) - likely benign g.53265835T>C g.53236653T>C - - IQSEC2_000014 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
+/. - c.3278C>A r.(?) p.(Ser1093*) Unknown - pathogenic g.53265677G>T g.53236495G>T - - IQSEC2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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