Full data view for gene IKBKG

Information The variants shown are described using the NM_003639.3 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
Legend  

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.-210479_*929753dup - - - Maternal (confirmed) g.153565841_154722429dup - - - DKC1_000000 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
./. - c.-205912_*68432dup - - - Maternal (inferred) g.153570408_153861108dup - GDI1 - FLNA_000307 - PubMed: Hu 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamMRX75/D13 PubMed: Hu 2016 family, 1 affected, 4 unaffected heterozygous carrier females M - - - - 0 - - 1 Johan den Dunnen
-?/. - c.-2122G>A likely benign - - Unknown g.153774198G>A - - - IKBKG_000070 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-2076T>G benign - - Unknown g.153774244T>G - G6PD:c.210+7A>C - IKBKG_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2076T>G likely benign - - Unknown g.153774244T>G - G6PD:NM_000402.4:c.210+7A>C, NM_001042351.2:c.120+7A>C, … - IKBKG_000071 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2069C>T VUS - - Unknown g.153774251C>T - G6PD:NM_000402.4:c.210G>A, NM_001042351.2:c.120G>A, … - IKBKG_000072 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1323C>G likely benign - - Unknown g.153774997C>G - G6PD:NM_000402.4:c.82+7G>C, NM_001099857.2:c.-979C>G, … - IKBKG_000073 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1322G>A likely benign - - Unknown g.153774998G>A - - - IKBKG_000074 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-1305C>A benign - - Unknown g.153775015C>A - G6PD:c.71G>T (R24L) - IKBKG_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1305C>A likely benign - - Unknown g.153775015C>A - G6PD:NM_000402.4:c.71G>T, NM_001099857.2:c.-961C>A, … - IKBKG_000075 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1282G>A likely benign - - Unknown g.153775038G>A - G6PD:c.48C>T (G16=) - IKBKG_000076 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1254G>A likely benign - - Unknown g.153775066G>A - G6PD:c.20C>T (A7V) - IKBKG_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-1254G>A likely benign - - Unknown g.153775066G>A - G6PD:NM_000402.4:c.20C>T, NM_001099857.2:c.-910G>A, … - IKBKG_000077 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.14T>G likely benign - - Unknown g.153780231T>G - G6PD:NM_000402.4:c.-5146A>C, NM_001042351.2:c.-4557A>C, … - IKBKG_000078 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.84C>A likely benign - - Unknown g.153780301C>A - IKBKG:c.84C>A (G28=) - IKBKG_000079 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.117_127dup - r.(?) p.(Ser43Cysfs*76) Unknown g.153780334_153780344dup - p.P42fsX45 - IKBKG_000005 - PubMed: Smahi et al. 2000, PubMed: Fusco et al. 2008 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Smahi 2000, PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 2 c.133C>T - r.(?) p.(Gln45*) Unknown g.153780350C>T - - - IKBKG_000006 2 familial cases. PubMed: Fusco et al. 2008 - - Unknown - - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F ? - (not applicable) - - 0 - - 1 Francesca Fusco
-?/. - c.151C>T likely benign - - Unknown g.153780368C>T - IKBKG:c.151C>T (L51F) - IKBKG_000080 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 2 c.151del - r.(?) p.(Leu51Serfs*64) Unknown g.153780368del - - - IKBKG_000007 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 2 c.169G>A - r.(?) p.(Glu57Lys) Unknown g.153780386G>A - - - IKBKG_000008 - PubMed: Fusco et al. 2004 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 2 c.184C>T - r.(?) p.(Arg62*) Unknown g.153780401C>T - - - IKBKG_000009 - PubMed: Smahi et al.2000, PubMed: Fusco et al.2008 - - Unknown - - - 0 - DNA ? - - IP-2 - PubMed: Smahi 2000, PubMed: Fusco 2008 - F - ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3 c.214del - r.(?) p.(Leu72Cysfs*43) Unknown g.153784406del - - - IKBKG_000010 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3 c.220del - r.(?) p.(Glu74Serfs*41) Unknown g.153784412del - - - IKBKG_000011 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya et.2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3 c.229del - r.(?) p.(Glu77Argfs*38) Unknown g.153784421del - - - IKBKG_000012 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3 c.256C>T - r.(?) p.(Gln86*) Unknown g.153784448C>T - - - IKBKG_000013 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3 c.262del - r.(?) p.(Glu88Argfs*27) Unknown g.153784454del - - - IKBKG_000014 - - - - Unknown ? - - 0 - DNA SEQ - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3 c.266_268del - r.(?) p.(Lys90del) Unknown g.153784458_153784460del - - - IKBKG_000015 - PubMed: Fusco et al. 2004 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2004 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3 c.292C>T - r.(?) p.(Gln98*) Unknown g.153784484C>T - - - IKBKG_000016 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3 c.337G>A - r.(?) p.(Asp113Asn) Parent #1 g.153784529G>A - - - IKBKG_000001 recurrent change, found twice in individuals with X-linked mental retardation (MRX), for details contact Lucy Raymond (flr24 @ cam.ac.uk) PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.337G>A VUS - - Unknown g.153784529G>A - IKBKG:c.337G>A (D113N) - IKBKG_000001 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3 c.358C>T - r.(?) p.(Gln120*) Unknown g.153784550C>T - - - IKBKG_000017 - - - - Unknown ? - - 0 - DNA SEQ - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3 c.367C>T - r.(?) p.(Arg123Trp) Unknown g.153784559C>T - - - IKBKG_000018 - PubMed: Fusco et al. 2004 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2004 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3 c.382dup - r.(?) p.(Leu128Profs*10) Unknown g.153784574dup - - - IKBKG_000019 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 3i c.399+1G>C - r.(?) p.(?) Unknown g.153784592G>C - - - IKBKG_000020 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
-?/. - c.399+19G>C likely benign - - Unknown g.153784610G>C - IKBKG:c.399+19G>C - IKBKG_000081 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 3i_10 c.400-?_*585+?del - r.? p.? Unknown g.153786747_153793261del - NEMOdel4_10 - IKBKG_000004 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Smahi 2000 - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4 c.433C>T - r.(?) p.(Gln145*) Unknown g.153786780C>T - - - IKBKG_000021 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4 c.436_471delinsT - r.(?) p.(Val146*) Unknown g.153786783_153786818delinsT - - - IKBKG_000003 - - - - Unknown ? - - 0 - DNA SEQ - - - - - - - - - - - - - - - -
?/? 4 c.454del - r.(?) p.(Glu152Serfs*129) Unknown g.153786801del - - - IKBKG_000022 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4 c.484del - r.(?) p.(Ala162Leufs*119) Unknown g.153786831del - - - IKBKG_000023 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4 c.502C>T - r.(?) p.(Gln168*) Unknown g.153786849C>T - - - IKBKG_000024 - - - - Unknown ? - - 0 - DNA SEQ - - IP-2 - - - F ? - - - 0 - - 1 Francesca Fusco
?/? 4 c.509T>C - r.(?) p.(Leu170Pro) Unknown g.153786856T>C - - - IKBKG_000025 - - - - Unknown ? - - 0 - DNA SEQ - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4 c.511G>T - r.(?) p.(Glu171*) Unknown g.153786858G>T - - - IKBKG_000026 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4 c.515_516insC - r.(?) p.(Arg173Serfs*15) Unknown g.153786862_153786863insC - - - IKBKG_000027 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4 c.516del - r.(?) p.(Arg173Glyfs*108) Unknown g.153786863del - - - IKBKG_000028 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4 c.518G>A - r.(?) p.(Arg173Gln) Unknown g.153786865G>A - - - IKBKG_000029 - - - - Unknown ? - - 0 - DNA SEQ - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4i c.518+2T>A - r.(?) p.(?) Unknown g.153786867T>A - - - IKBKG_000030 - PubMed: Aradhya et al.2001 - - Unknown - - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4i c.518+2T>G - r.(?) p.(?) Unknown g.153786867T>G - - - IKBKG_000031 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 4i c.519-3_519dup - r.(?) p.(?) Unknown g.153788619_153788622dup - - - IKBKG_000032 - - - - Unknown ? - - 0 - DNA SEQ - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 5 c.523dup - r.(?) p.(Arg175Profs*13) Unknown g.153788626dup - - - IKBKG_000033 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 5 c.551_588del - r.(?) p.(Leu184Argfs*57) Unknown g.153788654_153788691del - - - IKBKG_000034 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 5 c.570del - r.(?) p.(Leu191Cysfs*90) Unknown g.153788673del - - - IKBKG_000035 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - - - - - - 0 - - 1 Francesca Fusco
?/? 5 c.570_574del - r.(?) p.(Leu191Alafs*61) Unknown g.153788673_153788677del - - - IKBKG_000036 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 5 c.638_642dup - r.(?) p.(Met215Serfs*68) Unknown g.153788741_153788745dup - - - IKBKG_000037 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 5 c.639_645del - r.(?) p.(Arg214Serfs*65) Unknown g.153788742_153788748del - - - IKBKG_000038 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 5 c.653_659dup - r.(?) p.(Ser221Glyfs*35) Unknown g.153788756_153788762dup - - - IKBKG_000069 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 5 c.662C>A - r.(?) p.(Ser221*) Unknown g.153788765C>A - - - IKBKG_000039 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 6 c.685C>T - r.(?) p.(Gln229*) Unknown g.153789916C>T - - - IKBKG_000068 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 6 c.706C>T - r.(?) p.(Gln236*) Unknown g.153789937C>T - - - IKBKG_000040 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 6 c.715C>T - r.(?) p.(Gln239*) Unknown g.153789946C>T - - - IKBKG_000041 - PubMed: Fusco et al. 2004 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2004 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 6 c.723C>G - r.(?) p.(Tyr241*) Unknown g.153789954C>G - - - IKBKG_000042 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 6 c.766C>T - r.(?) p.(Arg256*) Unknown g.153789997C>T - - - IKBKG_000043 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 7 c.792dup - r.(?) p.(Gln265Thrfs*19) Unknown g.153791048dup - - - IKBKG_000044 - PubMed: Martinez-Pomar et al. 2005 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Martinez-Pomar 2005 - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 7 c.868C>T - r.(?) p.(Gln290*) Unknown g.153791124C>T - - - IKBKG_000045 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 7 c.896del - r.(?) p.(Pro299Argfs*3) Unknown g.153791152del - - - IKBKG_000046 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 8 c.940G>C - r.(?) p.(Ala314Pro) Unknown g.153791801G>C - - - IKBKG_000047 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 8 c.943dup - r.(?) p.(Glu315Glyfs*80) Unknown g.153791804dup - - - IKBKG_000048 - PubMed: Fusco et al. 2004 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2004 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 8 c.965T>C - r.(?) p.(Leu322Pro) Unknown g.153791826T>C - - - IKBKG_000049 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 8 c.967G>C - r.(?) p.(Ala323Pro) Unknown g.153791828G>C - - - IKBKG_000050 - PubMed: Sebban-Benin et al. 2007 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Sebban-Benin 2007 - F - ? (unknown) - - 0 - - 1 Francesca Fusco
-/. - c.1056-6T>C benign - - Unknown g.153792168T>C - IKBKG:c.1056-6T>C - IKBKG_000082 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1075C>T VUS - - Unknown g.153792193C>T - IKBKG:c.1075C>T (R359W) - IKBKG_000083 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 9 c.1078del - r.(?) p.(His360Metfs*91) Unknown g.153792196del - - - IKBKG_000051 - PubMed: Fusco et al. 2004 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2004 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 9 c.1110del - r.(?) p.(Ala371Profs*80) Unknown g.153792228del - - - IKBKG_000052 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 9 c.1110dup - r.(?) p.(Ala371Argfs*24) Unknown g.153792228dup - - - IKBKG_000053 - PubMed: Smahi et al. 2000 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Smahi 2000 - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 9 c.1115dup - r.(?) p.(Ala373Cysfs*22) Unknown g.153792233dup - - - IKBKG_000054 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 9 c.1116del - r.(?) p.(Ala373Profs*78) Unknown g.153792234delT - - - IKBKG_000055 - - - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2004 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
-?/. - c.1117+11G>A likely benign - - Unknown g.153792246G>A - IKBKG:c.1117+11G>A - IKBKG_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 10 c.1127_1131del - r.(?) p.(Ser377Profs*16) Unknown g.153792543_153792547del - - - IKBKG_000056 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 10 c.1135dup - r.(?) p.(Leu379Profs*16) Unknown g.153792551dup - - - IKBKG_000057 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 10 c.1136_1137del - r.(?) p.(Leu379Argfs*15) Unknown g.153792552_153792553del - - - IKBKG_000058 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 10 c.1150C>T - r.(?) p.(Gln384*) Unknown g.153792566C>T - - - IKBKG_000059 - PubMed: Fusco et al. 2004 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2004 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 10 c.1163_1175del - r.(?) p.(Pro388His*59) Unknown g.153792579_153792591del - - - IKBKG_000060 - PubMed: Aradhya et al.2001, PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001, PubMed: Aradhya 2001 - ? - ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 10 c.1166_1178dup - r.(?) p.(Asp394Argfs*5) Unknown g.153792582_153792594dup - - - IKBKG_000061 - PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001 - - ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 10 c.1167del - r.(?) p.(Glu390Argfs*61) Unknown g.153792583del - - - IKBKG_000062 - PubMed: Fusco et al.2008, PubMed: Aradhya et al.2001, PubMed: Aradhya et al.2001 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Aradhya 2001, PubMed: Aradhya 2001 - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 10 c.1167dup - r.(?) p.(Glu390Argfs*5) Unknown g.153792583dup - - - IKBKG_000063 - PubMed: Zonana et al. 2000 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Zonana 2000 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 10 c.1183_1184del - r.(?) p.(Phe395Leufs*11) Unknown g.153792599_153792600del - - - IKBKG_000064 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F - ? (unknown) - - 0 - - 1 Francesca Fusco
+?/. - c.1219A>G likely pathogenic - - Unknown g.153792635A>G - IKBKG:c.1219A>G (M407V) - IKBKG_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1219A>G likely pathogenic - - Unknown g.153792635A>G - IKBKG:c.1219A>G (M407V) - IKBKG_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1219A>G VUS - - Unknown g.153792635A>G - IKBKG:NM_001099856.3:c.1423A>G, NM_001099857.2:c.1219A>G, … - IKBKG_000085 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 10 c.1237C>T - r.(?) p.(His413Tyr) Unknown g.153792653C>T - - - IKBKG_000065 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 10 c.1244dup - r.(?) p.(Met415Ilefs*5) Unknown g.153792660dup - - - IKBKG_000066 - PubMed: Fusco et al.2008 - - Unknown ? - - 0 - DNA SEQ - - IP-2 - PubMed: Fusco 2008 - F ? ? (unknown) - - 0 - - 1 Francesca Fusco
?/? 10 c.1258T>C - r.(?) p.(*420Glnext*27) Unknown g.153792674T>C - - - IKBKG_000067 - - - - Unknown ? - - 0 - DNA ? - - IP-2 - - - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
+/? 10 c.1259A>G - r.(?) p.(*420Trpext*27) Unknown g.153792675A>G - - - IKBKG_000002 - PubMed: Smahi et al. 2000, OMIM:var0002 - - Unknown ? - - 0 - DNA ? - - IP-2 - PubMed: Smahi 2000 - ? ? ? (unknown) - - 0 - - 1 Francesca Fusco
Legend