Unique variants in gene IQSEC2

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

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

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. 1 - c.3G>A r.(?) p.? - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.32C>T r.(?) p.(Pro11Leu) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.169G>T r.(?) p.(Glu57*) - pathogenic g.53350153C>A g.53320955C>A - - IQSEC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., ?/. 2 - c.188A>G r.(?) p.(Glu63Gly) - likely benign, VUS g.53350134T>C g.53320936T>C IQSEC2(NM_001111125.2):c.188A>G (p.E63G) - IQSEC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline ? - - - - VKGL-NL_Utrecht, Wenjuan Qiu
+/. 1 - c.211G>T r.(?) p.(Glu71*) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.241G>A r.(?) p.(Asp81Asn) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.343G>T r.(?) p.(Gly115Cys) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.431C>T r.(?) p.(Thr144Ile) - 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 - - - - - VKGL-NL_Leiden
-?/. 3 - c.435C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-/. 1 - c.477G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.494C>T r.(?) p.(Ala165Val) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.505G>C r.(?) p.(Glu169Gln) - 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 - - - - - VKGL-NL_Utrecht
?/. 2 - c.560G>A r.(?) p.(Gly187Asp) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/+ 1 1 c.566C>A r.(?) p.(Ser189*) - pathogenic (dominant) g.53349756G>T g.53320558G>T - - IQSEC2_000066 1 more item Publication describing variant submitted; Nat Neurosci . - - Germline/De novo (untested) yes - - - - Marie Shaw
?/., -?/. 2 - c.578G>C r.(?) p.(Gly193Ala) - VUS, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 1 - c.669C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.708-98T>A r.(=) p.(=) - benign g.53321204A>T g.53292022A>T IQSEC2(NM_001111125.2):c.708-98T>A - IQSEC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.708A>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Groningen
+/. 1 2i c.737+2714_737+2715ins(62000) r.spl p.(?) - pathogenic (dominant) g.53318362_53318363ins(chr4:g.183693432_183756173) - - - IQSEC2_000007 1 more item PubMed: Gilissen 2014 - - De novo - - - - - Johan den Dunnen
-/. 1 - c.738-10984_738-10982del r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
-?/. 1 - c.738-10976G>A r.(=) p.(=) - likely benign g.53296219C>T - IQSEC2(NM_001243197.1):c.150G>A (p.E50=) - chrX_016362 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.738-1G>C r.spl? p.? - pathogenic g.53285244C>G g.53256062C>G IQSEC2(NM_001111125.2):c.738-1G>C - IQSEC2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.804del r.(?) p.(Tyr269Thrfs*3) ACMG pathogenic (dominant) g.53285182del g.53256000del 804delC - IQSEC2_000108 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.928G>T r.(?) p.(Glu310*) - pathogenic g.53285053C>A g.53255871C>A - - IQSEC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 3i c.999+341G>A r.(=) p.(=) - likely benign g.53284641C>T g.53255459C>T - - IQSEC2_000009 - - - - Germline - - - - - Yu Sun
+/. 1 4 c.1075C>T r.(?) p.(Arg359Cys) - 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 - - - - Johan den Dunnen
-/. 1 - c.1210G>A r.(?) p.(Ala404Thr) - 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 - - - - - VKGL-NL_Utrecht
+/. 1 - c.1399C>T r.(?) p.(Gln467*) - pathogenic (dominant) g.53283714G>A g.53254532G>A - - IQSEC2_000068 - - - - Unknown - - - - - IMGAG
-?/. 1 4i c.1401+200del r.(=) p.(=) - likely benign g.53283512del g.53254330del - - IQSEC2_000006 - - - - Germline - - - - - Yu Sun
-?/. 2 4i c.1402-65C>T r.(=) p.(=) - likely benign g.53280421G>A g.53251239G>A - - IQSEC2_000010 - - - - Germline - - - - - Yu Sun
-?/. 2 - c.1402-9dup r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
?/. 1 - c.1417G>A r.(?) p.(Glu473Lys) - VUS g.53280341C>T g.53251159C>T - - IQSEC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1485G>T r.(?) p.(Gln495His) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1510del r.(?) p.(Gln504Serfs*103) - pathogenic (dominant) g.53280248del g.53251066del 1510delC - IQSEC2_000069 - - - - Unknown - - - - - IMGAG
-?/. 1 - c.1625G>A r.(?) p.(Arg542Gln) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1653C>T r.(?) p.(=) - likely benign g.53280105G>A - IQSEC2(NM_001111125.2):c.1653C>T (p.L551=) - IQSEC2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1800dup r.(?) p.(Asp601*) - pathogenic g.53279958dup g.53250776dup - - IQSEC2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 2 5 c.1813_1814del r.(?) p.(Asp605Profs*3) - pathogenic (dominant), pathogenic g.53279944_53279945del g.53250762_53250763del 1813_1814delGA - IQSEC2_000101 - - - - Germline ?, - - - - - Marketa Wayhelova
-?/. 1 - c.1836C>T r.(?) p.(Arg612=) - likely benign g.53279922G>A - IQSEC2(NM_001111125.2):c.1836C>T (p.R612=) - chrX_016361 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1859del r.(?) p.(Val620Glyfs*13) - pathogenic g.53279899del g.53250717del IQSEC2(NM_001111125.2):c.1859delT (p.V620Gfs*13) - IQSEC2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 2 - c.2052_2053del r.(?) p.(Cys684*) ACMG pathogenic (dominant), pathogenic g.53279706_53279707del g.53250524_53250525del - - IQSEC2_000103 1 heterozygous, no homozygous; Clinindb (India) PubMed: Helbig 2016, Faruq 2020, submtted - rs797044889 De novo, Germline - 1/2795 individuals - - - Johan den Dunnen, Mohammed Faruq
-?/. 1 - c.2139C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2174C>T r.(?) p.(Pro725Leu) - likely benign g.53279584G>A - IQSEC2(NM_001111125.2):c.2174C>T (p.P725L) - IQSEC2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 5 c.2203C>T r.(?) p.(Gln735*) - pathogenic (dominant) g.53279555G>A g.53250373G>A - - IQSEC2_000016 - PubMed: Epi4K consortium 2016, Journal: Epi4K consortium 2016 - - De novo - - - - - Johan den Dunnen
+/. 1 - c.2272C>T r.(?) p.(Arg758*) - 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 - - - - - VKGL-NL_Utrecht
+/. 1 5 c.2273G>A r.(?) p.(Arg758Gln) - 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 - - - Johan den Dunnen
+?/. 2 - c.2278G>A r.(?) p.(Gly760Ser) - 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_Utrecht
-/. 1 - c.2297+14G>A r.(=) p.(=) - benign g.53279447C>T g.53250265C>T IQSEC2(NM_001111125.2):c.2297+14G>A - IQSEC2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 5i c.2297+228C>G r.(=) p.(=) - likely benign g.53279233G>C g.53250051G>C - - IQSEC2_000011 - - - - Germline - - - - - Yu Sun
-?/. 2 5i c.2298-258A>G r.(=) p.(=) - likely benign g.53278322T>C g.53249140T>C - - IQSEC2_000012 - - - - Germline - - - - - Yu Sun
+/. 1 - c.2298-2A>G r.spl? p.? - pathogenic g.53278066T>C g.53248884T>C IQSEC2(NM_001111125.2):c.2298-2A>G - IQSEC2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 2 - c.2317C>T r.(?) p.(Gln773*), p.(Gln773Ter) ACMG pathogenic g.53278045G>A g.53248863G>A IQSEC2(NM_001111125.2):c.2317C>T (p.Q773*) - IQSEC2_000109 ACMG PVS1, PS1, PM2, PM6, VKGL data sharing initiative Nederland PubMed: Johannesen 2020 - - De novo, CLASSIFICATION record - - - - - Johan den Dunnen, VKGL-NL_Rotterdam
-?/. 1 - c.2322T>C r.(?) p.(=) - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.2377C>A r.(?) p.(Leu793Met) - 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 - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2401C>T r.(?) p.(Gln801Ter) - pathogenic g.53277961G>A - - - chrX_016360 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 6 c.2402A>C r.(?) p.(Gln801Pro) - 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 - - - Johan den Dunnen
-/. 1 - c.2481C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/., +?/. 3 - c.2507C>T r.(?) p.(Ala836Val) - VUS, 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 - - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.2508G>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
?/., +?/. 2 - c.2534G>A r.(?) p.(Arg845Gln) - VUS, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.2549C>A r.(?) p.(Ala850Asp) - VUS g.53277329G>T g.53248147G>T - - IQSEC2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2571C>A r.(?) p.(=) - 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 - - - - - VKGL-NL_Groningen
+/. 1 - c.2582G>C r.(?) p.(Ser861Thr) ACMG pathogenic (dominant) g.53277296C>G g.53248114C>G - - IQSEC2_000107 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
+/. 1 8 c.2587C>T r.(?) p.(Arg863Trp) - 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 - - - Johan den Dunnen
+/? 1 8 c.2662dup r.(?) p.(Ile888Asnfs*16) - pathogenic (dominant) g.53276238dup g.53247056dup - - IQSEC2_000004 - - - - De novo ? - - - - Andreas Tzschach
+?/+? 1 8 c.2679_2680insA r.(?) p.(Asp894Argfs*10) - likely pathogenic (dominant) g.53276220_53276221insT g.53247038_53247039insT - - IQSEC2_000015 - Ewans et al submitted to Oct EJHG 2016 - - Unknown yes - - - - Cheryl Shoubridge
+/. 1 - c.2710C>T r.(?) p.(Arg904*) - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.2750-19_2750-8del r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
+/. 1 - c.2776C>T r.(?) p.(Arg926*) 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 - - - - - Andreas Laner
-?/. 1 - c.2831A>G r.(?) p.(Asn944Ser) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 9i c.2890-56A>C r.(=) p.(=) - likely benign g.53271147T>G g.53241965T>G - - IQSEC2_000013 - - - - Germline - - - - - Yu Sun
+/. 1 - c.2983C>T r.(?) p.(Arg995Trp) - pathogenic (dominant) g.53270998G>A g.53241816G>A - - IQSEC2_000106 - PubMed: Srivastava 2018 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.3015+4T>G r.spl? p.? - VUS g.53270962A>C g.53241780A>C IQSEC2(NM_001111125.2):c.3015+4T>G - IQSEC2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.3015+9A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
./. 1 - c.3034A>G r.(?) p.(Lys1012Glu) - likely pathogenic g.53268458T>C g.53239276T>C IQSEC2 K807E - IQSEC2_000067 - PubMed: Hu 2016 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 2 - c.3082G>A r.(?) p.(Val1028Met) - likely benign, 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 - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
+/. 1 - c.3097C>T r.(?) p.(Gln1033*) - pathogenic (recessive) g.53268395G>A g.53239213G>A - - IQSEC2_000105 - PubMed: Redin 2014 - - De novo - - - - - Johan den Dunnen
+/. 1 11i c.3116-3_3116-2del r.3116_3194del p.Tyr1039Serfs*37 - pathogenic (dominant) g.53267492_53267493del g.53238310_53238311del 3116-2delCA g.8790211delCA - IQSEC2_000018 - PubMed: Madrigal 2016 - - Germline - - - - - Irene Madrigal
+?/?, +/. 2 12 c.3163C>T r.(?) p.(Arg1055*) - likely pathogenic (dominant), pathogenic g.53267441G>A g.53238259G>A - - IQSEC2_000005 VKGL data sharing initiative Nederland - - - Unknown, CLASSIFICATION record ? - - - - Andreas Tzschach, VKGL-NL_Nijmegen
-?/. 1 - c.3274G>C r.(?) p.(Glu1092Gln) - likely benign g.53267330C>G g.53238148C>G - - IQSEC2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 12i c.3278-158A>G r.(=) p.(=) - likely benign g.53265835T>C g.53236653T>C - - IQSEC2_000014 - - - - Germline - - - - - Yu Sun
+/. 1 - c.3278C>A r.(?) p.(Ser1093*) - pathogenic g.53265677G>T g.53236495G>T - - IQSEC2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.3307C>T r.(?) p.(Arg1103Trp) - benign g.53265648G>A g.53236466G>A IQSEC2(NM_001111125.2):c.3307C>T (p.R1103W) - IQSEC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3316G>A r.(?) p.(Ala1106Thr) - likely benign g.53265639C>T g.53236457C>T IQSEC2(NM_001111125.2):c.3316G>A (p.A1106T) - IQSEC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3320C>G r.(?) p.(Ser1107*) - pathogenic g.53265635G>C g.53236453G>C - - IQSEC2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/., +/. 2 14 c.3364C>T r.(?) p.(Arg1122Cys) - likely benign, pathogenic (dominant) g.53265591G>A g.53236409G>A IQSEC2(NM_001111125.2):c.3364C>T (p.R1122C), NM_001111125: c.C3364T; p.R1122C - IQSEC2_000019 VKGL data sharing initiative Nederland PubMed: Karaca 2015 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, Johan den Dunnen
+/. 1 - c.3387C>A r.(?) p.(Tyr1129*) - pathogenic g.53265568G>T g.53236386G>T IQSEC2(NM_001111125.2):c.3387C>A (p.Y1129*) - IQSEC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.3387C>T r.(?) p.(=) - likely benign g.53265568G>A g.53236386G>A IQSEC2(NM_001111125.2):c.3387C>T (p.Y1129=) - IQSEC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3478G>T r.(?) p.(Gly1160*) - pathogenic g.53264988C>A g.53235806C>A IQSEC2(NM_001111125.2):c.3478G>T (p.G1160*) - IQSEC2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.3541C>T r.(?) p.(Pro1181Ser) - likely benign g.53264327G>A g.53235145G>A IQSEC2(NM_001111125.2):c.3541C>T (p.P1181S) - IQSEC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.3555A>C r.(?) p.(=) - likely benign g.53264313T>G g.53235131T>G IQSEC2(NM_001111125.2):c.3555A>C (p.P1185=) - IQSEC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.3735C>T r.(?) p.(=) - likely benign g.53264133G>A g.53234951G>A IQSEC2(NM_001111125.2):c.3735C>T (p.H1245=) - IQSEC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.3735_3737del r.(?) p.(His1247del) - likely benign g.53264151_53264153del g.53234969_53234971del IQSEC2(NM_001111125.2):c.3735_3737del (p.(His1247del)) - IQSEC2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3803A>C r.(?) p.(His1268Pro) - likely benign g.53264065T>G - IQSEC2(NM_001111125.2):c.3803A>C (p.(His1268Pro)) - IQSEC2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3973C>G r.(?) p.(His1325Asp) - likely benign g.53263895G>C g.53234713G>C IQSEC2(NM_001111125.2):c.3973C>G (p.(His1325Asp)) - IQSEC2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.3990G>A r.(?) p.(=) - benign g.53263878C>T g.53234696C>T IQSEC2(NM_001111125.2):c.3990G>A (p.G1330=) - IQSEC2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.4039del r.(?) p.(Ala1347Leufs*50) - pathogenic g.53263834del g.53234652del IQSEC2(NM_001111125.2):c.4039delG (p.A1347Lfs*50) - IQSEC2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/., ?/. 3 - c.4204G>A r.(?) p.(Ala1402Thr) - likely benign, VUS g.53263664C>T g.53234482C>T IQSEC2(NM_001111125.2):c.4204G>A (p.(Ala1402Thr), p.A1402T) - IQSEC2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_VUmc, VKGL-NL_Leiden
-?/. 1 - c.4206G>A r.(?) p.(=) - likely benign g.53263662C>T g.53234480C>T IQSEC2(NM_001111125.2):c.4206G>A (p.A1402=) - IQSEC2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.4293C>T r.(?) p.(=) - VUS g.53263575G>A g.53234393G>A IQSEC2(NM_001111125.2):c.4293C>T (p.(=)) - IQSEC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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