Full data view for gene IQSEC2

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

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.3G>A likely pathogenic (dominant) r.(?) p.? Unknown g.53350319C>T - IQSEC2(NM_001111125.2):c.3G>A (p.M1?) - IQSEC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.32C>T VUS r.(?) p.(Pro11Leu) Unknown g.53350290G>A - IQSEC2(NM_001111125.2):c.32C>T (p.P11L) - IQSEC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.169G>T pathogenic (dominant) r.(?) p.(Glu57*) Unknown g.53350153C>A - - - IQSEC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.188A>G VUS r.(?) p.(Glu63Gly) Maternal (confirmed) g.53350134T>C - - - IQSEC2_000017 - - - - Germline ? - - 0 - DNA SEQ-NG-I blood - ID P22 - - M no China - >02y07m 0 - - 1 Wenjuan Qiu
-?/. - c.188A>G likely benign r.(?) p.(Glu63Gly) Unknown g.53350134T>C - IQSEC2(NM_001111125.2):c.188A>G (p.E63G) - IQSEC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.211G>T pathogenic (dominant) r.(?) p.(Glu71*) Unknown g.53350111C>A - IQSEC2(NM_001111125.2):c.211G>T (p.E71*) - IQSEC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.241G>A likely benign r.(?) p.(Asp81Asn) Unknown g.53350081C>T - IQSEC2(NM_001111125.2):c.241G>A (p.D81N) - IQSEC2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.343G>T VUS r.(?) p.(Gly115Cys) Unknown g.53349979C>A - IQSEC2(NM_001111125.2):c.343G>T (p.G115C) - IQSEC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.431C>T likely benign r.(?) p.(Thr144Ile) Unknown g.53349891G>A - IQSEC2(NM_001111125.2):c.431C>T (p.(Thr144Ile)) - IQSEC2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T likely benign r.(?) p.(=) Unknown g.53349887G>A - IQSEC2(NM_001111125.2):c.435C>T (p.T145=) - IQSEC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T likely benign r.(?) p.(=) Unknown g.53349887G>A - IQSEC2(NM_001111125.2):c.435C>T (p.T145=) - IQSEC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T likely benign r.(?) p.(=) Unknown g.53349887G>A - IQSEC2(NM_001111125.2):c.435C>T (p.T145=) - IQSEC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477G>A benign r.(?) p.(=) Unknown g.53349845C>T - IQSEC2(NM_001111125.2):c.477G>A (p.L159=) - IQSEC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.494C>T likely benign r.(?) p.(Ala165Val) Unknown g.53349828G>A - IQSEC2(NM_001111125.2):c.494C>T (p.(Ala165Val)) - IQSEC2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.505G>C likely benign r.(?) p.(Glu169Gln) Unknown g.53349817C>G - IQSEC2(NM_001111125.2):c.505G>C (p.E169Q) - IQSEC2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.560G>A VUS r.(?) p.(Gly187Asp) Unknown g.53349762C>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 VUS r.(?) p.(Gly187Asp) Unknown g.53349762C>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 pathogenic (dominant) r.(?) p.(Ser189*) Unknown 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 likely benign r.(?) p.(Gly193Ala) Unknown g.53349744C>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 VUS r.(?) p.(Gly193Ala) Unknown g.53349744C>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 likely benign r.(?) p.(=) Unknown g.53349653G>A - IQSEC2(NM_001111125.2):c.669C>T (p.T223=) - IQSEC2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.708-98T>A benign r.(=) p.(=) Unknown g.53321204A>T - IQSEC2(NM_001111125.2):c.708-98T>A - IQSEC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2i c.737+2714_737+2715ins(62000) pathogenic (dominant) r.spl p.(?) Unknown g.53318362_53318363ins(chr4:g.183693432_183756173) - - - IQSEC2_000007 insertion of duplicated sequence from TENM3 gene PubMed: Gilissen 2014 - - De novo - - - 0 - DNA SEQ, SEQ-NG - - ID - PubMed: Gilissen 2014 - - - - - - 0 - - 1 Johan den Dunnen
-/. - c.738-10984_738-10982del benign r.(=) p.(=) Unknown g.53296240_53296242del - IQSEC2(NM_001243197.2):c.142_144delGAG (p.E48del) - IQSEC2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.738-1G>C pathogenic (dominant) r.spl? p.? Unknown g.53285244C>G - IQSEC2(NM_001111125.2):c.738-1G>C - IQSEC2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.928G>T pathogenic (dominant) r.(?) p.(Glu310*) Unknown g.53285053C>A - - - IQSEC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 3i c.999+341G>A likely benign r.(=) p.(=) Maternal (inferred) g.53284641C>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 pathogenic (dominant) r.(?) p.(Arg359Cys) Maternal (confirmed) g.53284038G>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 benign r.(?) p.(Ala404Thr) Unknown g.53283903C>T - IQSEC2(NM_001111125.2):c.1210G>A (p.A404T) - IQSEC2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1399C>T pathogenic (dominant) r.(?) p.(Gln467*) Both (homozygous) g.53283714G>A - - - IQSEC2_000068 - - - - Unknown - - - 0 - DNA SEQ - - - - - - M - - - - 0 - - 1 IMGAG
-?/. 4i c.1401+200del likely benign r.(=) p.(=) Unknown g.53283512del - - - 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 likely benign r.(=) p.(=) Maternal (inferred) g.53280421G>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 likely benign r.(=) p.(=) Maternal (inferred) g.53280421G>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 likely benign r.(=) p.(=) Unknown g.53280371dup - IQSEC2(NM_001111125.2):c.1402-8dupC - IQSEC2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1417G>A VUS r.(?) p.(Glu473Lys) Unknown g.53280341C>T - - - IQSEC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1485G>T likely benign r.(?) p.(Gln495His) Unknown g.53280273C>A - IQSEC2(NM_001111125.2):c.1485G>T (p.Q495H) - IQSEC2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1510del pathogenic (dominant) r.(?) p.(Gln504Serfs*103) Unknown g.53280248del - 1510delC - IQSEC2_000069 - - - - Unknown - - - 0 - DNA SEQ - - - - - - F - - - - 0 - - 1 IMGAG
-?/. - c.1625G>A likely benign r.(?) p.(Arg542Gln) Unknown g.53280133C>T - IQSEC2(NM_001111125.2):c.1625G>A (p.R542Q) - IQSEC2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1800dup pathogenic (dominant) r.(?) p.(Asp601*) Unknown g.53279958dup - - - IQSEC2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 5 c.1813_1814del pathogenic (dominant) r.(?) p.(Asp605Profs*3) Maternal (confirmed) g.53279944_53279945del - 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 pathogenic r.(?) p.(Asp605Profs*3) Maternal (confirmed) g.53279944_53279945del - - - 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 pathogenic (dominant) r.(?) p.(Val620Glyfs*13) Unknown g.53279899del - IQSEC2(NM_001111125.2):c.1859delT (p.V620Gfs*13) - IQSEC2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2139C>T likely benign r.(?) p.(=) Unknown g.53279619G>A - IQSEC2(NM_001111125.2):c.2139C>T (p.S713=) - IQSEC2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.2203C>T pathogenic (dominant) r.(?) p.(Gln735*) Unknown g.53279555G>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 pathogenic (dominant) r.(?) p.(Arg758*) Unknown g.53279486G>A - IQSEC2(NM_001111125.2):c.2272C>T (p.R758*) - IQSEC2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.2273G>A pathogenic (dominant) r.(?) p.(Arg758Gln) Parent #1 g.53279485C>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 likely pathogenic (dominant) r.(?) p.(Gly760Ser) Unknown g.53279480C>T - IQSEC2(NM_001111125.2):c.2278G>A (p.G760S) - IQSEC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2278G>A likely pathogenic (dominant) r.(?) p.(Gly760Ser) Unknown g.53279480C>T - IQSEC2(NM_001111125.2):c.2278G>A (p.G760S) - IQSEC2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2297+14G>A benign r.(=) p.(=) Unknown g.53279447C>T - IQSEC2(NM_001111125.2):c.2297+14G>A - IQSEC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 5i c.2297+228C>G likely benign r.(=) p.(=) Maternal (inferred) g.53279233G>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 likely benign r.(=) p.(=) Maternal (inferred) g.53279233G>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 likely benign r.(=) p.(=) Maternal (inferred) g.53278322T>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 likely benign r.(=) p.(=) Maternal (inferred) g.53278322T>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 pathogenic (dominant) r.spl? p.? Unknown g.53278066T>C - IQSEC2(NM_001111125.2):c.2298-2A>G - IQSEC2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2322T>C likely benign r.(?) p.(=) Unknown g.53278040A>G - IQSEC2(NM_001111125.2):c.2322T>C (p.Y774=) - IQSEC2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2377C>A VUS r.(?) p.(Leu793Met) Unknown g.53277985G>T - IQSEC2(NM_001111125.2):c.2377C>A (p.L793M) - IQSEC2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.2402A>C pathogenic (dominant) r.(?) p.(Gln801Pro) Parent #1 g.53277960T>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 benign r.(?) p.(=) Unknown g.53277397G>A - IQSEC2(NM_001111125.2):c.2481C>T (p.D827=) - IQSEC2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2507C>T VUS r.(?) p.(Ala836Val) Unknown g.53277371G>A - IQSEC2(NM_001111125.2):c.2507C>T (p.A836V) - IQSEC2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2507C>T VUS r.(?) p.(Ala836Val) Unknown g.53277371G>A - IQSEC2(NM_001111125.2):c.2507C>T (p.A836V) - IQSEC2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2507C>T likely pathogenic (dominant) r.(?) p.(Ala836Val) Unknown g.53277371G>A - IQSEC2(NM_001111125.2):c.2507C>T (p.A836V) - IQSEC2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2508G>A likely benign r.(?) p.(=) Unknown g.53277370C>T - IQSEC2(NM_001111125.2):c.2508G>A (p.A836=) - IQSEC2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2534G>A VUS r.(?) p.(Arg845Gln) Unknown g.53277344C>T - IQSEC2(NM_001111125.2):c.2534G>A (p.R845Q) - IQSEC2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2534G>A likely pathogenic (dominant) r.(?) p.(Arg845Gln) Unknown g.53277344C>T - IQSEC2(NM_001111125.2):c.2534G>A (p.R845Q) - IQSEC2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2549C>A VUS r.(?) p.(Ala850Asp) Unknown g.53277329G>T - - - IQSEC2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2571C>A likely benign r.(?) p.(=) Unknown g.53277307G>T - IQSEC2(NM_001111125.2):c.2571C>A (p.I857=) - IQSEC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 8 c.2587C>T pathogenic (dominant) r.(?) p.(Arg863Trp) Parent #1 g.53276313G>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 pathogenic (dominant) r.(?) p.(Ile888Asnfs*16) Unknown g.53276238dup - - - IQSEC2_000004 - - - - De novo ? - - 0 - DNA SEQ - - MRX;IDX - - - ? - ? (unknown) ? - 0 - - 1 Andreas Tzschach
+?/+? 8 c.2679_2680insA likely pathogenic (dominant) r.(?) p.(Asp894Argfs*10) Unknown g.53276220_53276221insT - - - 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 pathogenic (dominant) r.(?) p.(Arg904*) Unknown g.53276190G>A - IQSEC2(NM_001111125.2):c.2710C>T (p.R904*) - IQSEC2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2750-19_2750-8del likely benign r.(=) p.(=) Unknown g.53272666_53272677del - IQSEC2(NM_001111125.2):c.2750-19_2750-8del (p.(=)) - IQSEC2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2831A>G likely benign r.(?) p.(Asn944Ser) Unknown g.53272572T>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 likely benign r.(=) p.(=) Maternal (inferred) g.53271147T>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 likely benign r.(=) p.(=) Maternal (inferred) g.53271147T>G - - - IQSEC2_000013 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.3015+4T>G VUS r.spl? p.? Unknown g.53270962A>C - IQSEC2(NM_001111125.2):c.3015+4T>G - IQSEC2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3015+9A>G likely benign r.(=) p.(=) Unknown g.53270957T>C - IQSEC2(NM_001111125.2):c.3015+9A>G - IQSEC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3015+9A>G likely benign r.(=) p.(=) Unknown g.53270957T>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) g.53268458T>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 VUS r.(?) p.(Val1028Met) Unknown g.53268410C>T - IQSEC2(NM_001111125.2):c.3082G>A (p.V1028M) - IQSEC2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3082G>A likely benign r.(?) p.(Val1028Met) Unknown g.53268410C>T - IQSEC2(NM_001111125.2):c.3082G>A (p.V1028M) - IQSEC2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11i c.3116-3_3116-2del pathogenic (dominant) r.3116_3194del p.Tyr1039Serfs*37 Unknown g.53267490_53267491del - 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 likely pathogenic (dominant) r.(?) p.(Arg1055*) Unknown g.53267441G>A - - - IQSEC2_000005 - - - - Unknown ? - - 0 - DNA SEQ - - MRX;IDX - - - F - ? (unknown) ? - 0 - - 1 Andreas Tzschach
+/. - c.3163C>T pathogenic (dominant) r.(?) p.(Arg1055*) Unknown g.53267441G>A - - - IQSEC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3274G>C likely benign r.(?) p.(Glu1092Gln) Unknown g.53267330C>G - - - IQSEC2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 12i c.3278-158A>G likely benign r.(=) p.(=) Maternal (inferred) g.53265835T>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 likely benign r.(=) p.(=) Maternal (inferred) g.53265835T>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 pathogenic (dominant) r.(?) p.(Ser1093*) Unknown g.53265677G>T - - - IQSEC2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3307C>T benign r.(?) p.(Arg1103Trp) Unknown g.53265648G>A - IQSEC2(NM_001111125.2):c.3307C>T (p.R1103W) - IQSEC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3316G>A likely benign r.(?) p.(Ala1106Thr) Unknown g.53265639C>T - IQSEC2(NM_001111125.2):c.3316G>A (p.A1106T) - IQSEC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3320C>G pathogenic (dominant) r.(?) p.(Ser1107*) Unknown g.53265635G>C - - - IQSEC2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14 c.3364C>T pathogenic (dominant) r.(?) p.(Arg1122Cys) Maternal (confirmed) g.53265591G>A - NM_001111125: c.C3364T; p.R1122C - IQSEC2_000019 - PubMed: Karaca 2015 - - Germline - - - 0 - DNA SEQ-NG-I - WES ? 26539891-FamBAB4892 PubMed: Karaca 2015 - - - - - - 0 family structure in paper - 1 Johan den Dunnen
-?/. - c.3364C>T likely benign r.(?) p.(Arg1122Cys) Unknown g.53265591G>A - IQSEC2(NM_001111125.2):c.3364C>T (p.R1122C) - IQSEC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3387C>A pathogenic (dominant) r.(?) p.(Tyr1129*) Unknown g.53265568G>T - IQSEC2(NM_001111125.2):c.3387C>A (p.Y1129*) - IQSEC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3387C>T likely benign r.(?) p.(=) Unknown g.53265568G>A - IQSEC2(NM_001111125.2):c.3387C>T (p.Y1129=) - IQSEC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.3478G>T pathogenic (dominant) r.(?) p.(Gly1160*) Unknown g.53264988C>A - IQSEC2(NM_001111125.2):c.3478G>T (p.G1160*) - IQSEC2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3541C>T likely benign r.(?) p.(Pro1181Ser) Unknown g.53264327G>A - IQSEC2(NM_001111125.2):c.3541C>T (p.P1181S) - IQSEC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3541C>T likely benign r.(?) p.(Pro1181Ser) Unknown g.53264327G>A - IQSEC2(NM_001111125.2):c.3541C>T (p.P1181S) - IQSEC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3555A>C likely benign r.(?) p.(=) Unknown g.53264313T>G - IQSEC2(NM_001111125.2):c.3555A>C (p.P1185=) - IQSEC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3735C>T likely benign r.(?) p.(=) Unknown g.53264133G>A - IQSEC2(NM_001111125.2):c.3735C>T (p.H1245=) - IQSEC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3735_3737del likely benign r.(?) p.(His1247del) Unknown g.53264151_53264153del - IQSEC2(NM_001111125.2):c.3735_3737del (p.(His1247del)) - IQSEC2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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