Full data view for gene IKBKAP

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_003640.3 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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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.-301C>G r.(?) p.(=) Unknown - benign g.111696389G>C g.108934109G>C IKBKAP(NM_003640.3):c.-301C>G - IKBKAP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-126T>G r.(?) p.(=) Unknown - benign g.111696214A>C g.108933934A>C IKBKAP(NM_003640.3):c.-126T>G - IKBKAP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.23G>A r.(?) p.(Arg8Gln) Unknown - VUS g.111693404C>T g.108931124C>T IKBKAP(NM_003640.3):c.23G>A (p.R8Q) - IKBKAP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.95C>T r.(?) p.(Thr32Met) Unknown - VUS g.111693332G>A g.108931052G>A IKBKAP(NM_003640.3):c.95C>T (p.T32M) - IKBKAP_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.189C>T r.(?) p.(Leu63=) Unknown - benign g.111692163G>A g.108929883G>A ELP1(NM_003640.3):c.189C>T (p.L63=) - IKBKAP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.209G>A r.(?) p.(Arg70His) Unknown - likely benign g.111692143C>T g.108929863C>T IKBKAP(NM_003640.3):c.209G>A (p.R70H) - IKBKAP_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.286A>G r.(?) p.(Ser96Gly) Unknown - likely benign g.111692066T>C g.108929786T>C IKBKAP(NM_003640.3):c.286A>G (p.S96G) - IKBKAP_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383C>T r.(?) p.(Thr128Ile) Unknown - VUS g.111689654G>A g.108927374G>A IKBKAP(NM_003640.3):c.383C>T (p.T128I) - IKBKAP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.441G>A r.(?) p.(Gln147=) Unknown - benign g.111688828C>T g.108926548C>T ELP1(NM_003640.3):c.441G>A (p.Q147=) - IKBKAP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.493A>G r.(?) p.(Arg165Gly) Unknown - VUS g.111685181T>C g.108922901T>C IKBKAP(NM_003640.3):c.493A>G (p.R165G) - IKBKAP_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.545T>A r.(?) p.(Met182Lys) Unknown - benign g.111685129A>T g.108922849A>T IKBKAP(NM_003640.3):c.545T>A (p.M182K) - IKBKAP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591A>G r.(?) p.(Gln197=) Unknown - likely benign g.111681591T>C g.108919311T>C ELP1(NM_003640.3):c.591A>G (p.Q197=) - IKBKAP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614A>G r.(?) p.(Gln205Arg) Unknown - VUS g.111681568T>C g.108919288T>C IKBKAP(NM_003640.3):c.614A>G (p.Q205R) - IKBKAP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.741-15dup r.(=) p.(=) Unknown - benign g.111679965dup g.108917685dup ELP1(NM_003640.3):c.741-15dupT, IKBKAP(NM_003640.3):c.741-16_741-15insT - IKBKAP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.751A>G r.(?) p.(Ser251Gly) Unknown - benign g.111679940T>C g.108917660T>C IKBKAP(NM_003640.3):c.751A>G (p.S251G) - IKBKAP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.751A>G r.(?) p.(Ser251Gly) Unknown - benign g.111679940T>C g.108917660T>C IKBKAP(NM_003640.3):c.751A>G (p.S251G) - IKBKAP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.751A>G r.(?) p.(Ser251Gly) Parent #1 - VUS g.111679940T>C g.108917660T>C - - IKBKAP_000014 conflicting interpretations of pathogenicity; 26 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs17853166 Germline - 26/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 26 Mohammed Faruq
-/. - c.819C>T r.(?) p.(Leu273=) Unknown - benign g.111679872G>A g.108917592G>A ELP1(NM_003640.3):c.819C>T (p.L273=) - IKBKAP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.934G>A r.(?) p.(Glu312Lys) Unknown - benign g.111678508C>T g.108916228C>T IKBKAP(NM_003640.3):c.934G>A (p.E312K) - IKBKAP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.934G>A r.(?) p.(Glu312Lys) Unknown - benign g.111678508C>T g.108916228C>T IKBKAP(NM_003640.3):c.934G>A (p.E312K) - IKBKAP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.934G>A r.(?) p.(Glu312Lys) Parent #1 - VUS g.111678508C>T g.108916228C>T - - IKBKAP_000012 conflicting interpretations of pathogenicity; 26 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs1140064 Germline - 26/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 26 Mohammed Faruq
-/. - c.958+7C>T r.(=) p.(=) Unknown - benign g.111678477G>A g.108916197G>A IKBKAP(NM_003640.3):c.958+7C>T - IKBKAP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.959-15C>T r.(=) p.(=) Unknown - benign g.111674789G>A g.108912509G>A IKBKAP(NM_003640.3):c.959-15C>T - IKBKAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.959-15C>T r.(=) p.(=) Unknown - benign g.111674789G>A g.108912509G>A IKBKAP(NM_003640.3):c.959-15C>T - IKBKAP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1073G>A r.(?) p.(Arg358Gln) Parent #1 - VUS g.111674660C>T g.108912380C>T - - IKBKAP_000062 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs139091484 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.1143G>A r.(?) p.(Val381=) Unknown - likely benign g.111674590C>T g.108912310C>T IKBKAP(NM_003640.3):c.1143G>A (p.=) - IKBKAP_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1189+539_1190-538del r.(=) p.(=) Unknown - VUS g.111673999_111674006del g.108911719_108911726del - - IKBKAP_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1213C>T r.(?) p.(Arg405Trp) Unknown - VUS g.111673437G>A g.108911157G>A IKBKAP(NM_003640.3):c.1213C>T (p.R405W) - IKBKAP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1213C>T r.(?) p.(Arg405Trp) Parent #1 - VUS g.111673437G>A g.108911157G>A - - IKBKAP_000009 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs139703788 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
-/. - c.1230G>A r.(?) p.(Pro410=) Unknown - benign g.111673420C>T g.108911140C>T ELP1(NM_003640.3):c.1230G>A (p.P410=) - IKBKAP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1353T>C r.(?) p.(Tyr451=) Unknown - likely benign g.111673297A>G g.108911017A>G ELP1(NM_003640.3):c.1353T>C (p.Y451=) - IKBKAP_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1574G>A r.(?) p.(Arg525Gln) Unknown - benign g.111668652C>T g.108906372C>T IKBKAP(NM_003640.3):c.1574G>A (p.R525Q) - IKBKAP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1644-13T>C r.(=) p.(=) Unknown - benign g.111665962A>G g.108903682A>G IKBKAP(NM_003640.3):c.1644-13T>C - IKBKAP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1758T>G r.(?) p.(Pro586=) Unknown - benign g.111665215A>C g.108902935A>C ELP1(NM_003640.3):c.1758T>G (p.P586=) - IKBKAP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1886G>A r.(?) p.(Arg629His) Unknown - VUS g.111663930C>T g.108901650C>T IKBKAP(NM_003640.3):c.1886G>A (p.R629H) - IKBKAP_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1911T>C r.(?) p.(Val637=) Unknown - likely benign g.111663808A>G g.108901528A>G ELP1(NM_003640.3):c.1911T>C (p.V637=) - IKBKAP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1926G>A r.(?) p.(Thr642=) Unknown - benign g.111663793C>T g.108901513C>T ELP1(NM_003640.3):c.1926G>A (p.T642=) - IKBKAP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1965C>T r.(?) p.(Thr655=) Unknown - benign g.111663754G>A g.108901474G>A ELP1(NM_003640.3):c.1965C>T (p.T655=) - IKBKAP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2026G>A r.(?) p.(Gly676Ser) Unknown - likely benign g.111662644C>T g.108900364C>T IKBKAP(NM_003640.3):c.2026G>A (p.G676S) - IKBKAP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.2066G>A r.(?) p.(Arg689Gln) Unknown - likely pathogenic (recessive) g.111662604C>T g.108900324C>T - - IKBKAP_000065 - PubMed: Antoniadi 2015 - rs201742754 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel HSN - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/. - c.2087G>C r.(?) p.(Arg696Pro) Unknown - pathogenic g.111662583C>G g.108900303C>G ELP1(NM_003640.3):c.2087G>C (p.R696P), IKBKAP(NM_003640.3):c.2087G>C (p.R696P) - IKBKAP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2087G>C r.(?) p.(Arg696Pro) Unknown - pathogenic g.111662583C>G g.108900303C>G ELP1(NM_003640.3):c.2087G>C (p.R696P), IKBKAP(NM_003640.3):c.2087G>C (p.R696P) - IKBKAP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2204+6T>C r.(=) p.(=) Unknown - pathogenic g.111662096A>G g.108899816A>G ELP1(NM_003640.3):c.2204+6T>C, IKBKAP(NM_003640.3):c.2204+6T>C - IKBKAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.2204+6T>C r.(=) p.(=) Unknown - pathogenic g.111662096A>G g.108899816A>G ELP1(NM_003640.3):c.2204+6T>C, IKBKAP(NM_003640.3):c.2204+6T>C - IKBKAP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2252A>G r.(?) p.(Asn751Ser) Unknown - VUS g.111660982T>C g.108898702T>C ELP1(NM_003640.3):c.2252A>G (p.N751S) - IKBKAP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2283+6T>G r.(=) p.(=) Unknown - VUS g.111660945A>C g.108898665A>C - - IKBKAP_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
-/. - c.2294G>A r.(?) p.(Gly765Glu) Unknown - benign g.111660851C>T g.108898571C>T IKBKAP(NM_003640.3):c.2294G>A (p.G765E) - IKBKAP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2364-17T>C r.(=) p.(=) Unknown - likely benign g.111659582A>G g.108897302A>G ELP1(NM_003640.3):c.2364-17T>C - IKBKAP_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2446A>C r.(?) p.(Ile816Leu) Unknown - benign g.111659483T>G g.108897203T>G IKBKAP(NM_003640.3):c.2446A>C (p.I816L) - IKBKAP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2490A>G r.(?) p.(Ile830Met) Unknown - benign g.111659439T>C g.108897159T>C IKBKAP(NM_003640.3):c.2490A>G (p.I830M) - IKBKAP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2543C>A r.(?) p.(Thr848Asn) Unknown - likely benign g.111659277G>T g.108896997G>T IKBKAP(NM_003640.3):c.2543C>A (p.T848N) - IKBKAP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2543C>A r.(?) p.(Thr848Asn) Unknown - likely benign g.111659277G>T g.108896997G>T IKBKAP(NM_003640.3):c.2543C>A (p.T848N) - IKBKAP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2552T>G r.(?) p.(Leu851Arg) Unknown - VUS g.111659268A>C - ELP1(NM_003640.3):c.2552T>G (p.L851R) - IKBKAP_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2587+14C>T r.(=) p.(=) Unknown - benign g.111659219G>A g.108896939G>A IKBKAP(NM_003640.3):c.2587+14C>T - IKBKAP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2587+14C>T r.(=) p.(=) Unknown - likely benign g.111659219G>A g.108896939G>A IKBKAP(NM_003640.3):c.2587+14C>T - IKBKAP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2631C>T r.(?) p.(Ala877=) Unknown - benign g.111658881G>A g.108896601G>A ELP1(NM_003640.3):c.2631C>T (p.A877=) - IKBKAP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2671T>C r.(?) p.(Tyr891His) Unknown - VUS g.111658841A>G g.108896561A>G IKBKAP(NM_003640.3):c.2671T>C (p.Y891H) - IKBKAP_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2741C>T r.(?) p.(Pro914Leu) Unknown - pathogenic g.111656342G>A g.108894062G>A IKBKAP(NM_003640.3):c.2741C>T (p.P914L) - IKBKAP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2786C>G r.(?) p.(Thr929Ser) Unknown - VUS g.111656297G>C - ELP1(NM_003640.3):c.2786C>G (p.T929S) - IKBKAP_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2803A>T r.(?) p.(Thr935Ser) Unknown - VUS g.111656280T>A g.108894000T>A ELP1(NM_003640.3):c.2803A>T (p.T935S), IKBKAP(NM_003640.3):c.2803A>T (p.T935S) - IKBKAP_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2803A>T r.(?) p.(Thr935Ser) Unknown - VUS g.111656280T>A g.108894000T>A ELP1(NM_003640.3):c.2803A>T (p.T935S), IKBKAP(NM_003640.3):c.2803A>T (p.T935S) - IKBKAP_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2825G>A r.(?) p.(Arg942Gln) Unknown - VUS g.111656258C>T g.108893978C>T ELP1(NM_003640.3):c.2825G>A (p.R942Q), IKBKAP(NM_003640.3):c.2825G>A (p.R942Q) - IKBKAP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2825G>A r.(?) p.(Arg942Gln) Unknown - VUS g.111656258C>T g.108893978C>T ELP1(NM_003640.3):c.2825G>A (p.R942Q), IKBKAP(NM_003640.3):c.2825G>A (p.R942Q) - IKBKAP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2855A>T r.(?) p.(Lys952Ile) Unknown - benign g.111656228T>A g.108893948T>A IKBKAP(NM_003640.3):c.2855A>T (p.K952I) - IKBKAP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2855A>T r.(?) p.(Lys952Ile) Unknown - benign g.111656228T>A g.108893948T>A IKBKAP(NM_003640.3):c.2855A>T (p.K952I) - IKBKAP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3031C>T r.(?) p.(Arg1011Cys) Unknown - VUS g.111653612G>A g.108891332G>A IKBKAP(NM_003640.3):c.3031C>T (p.R1011C) - IKBKAP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3037G>A r.(?) p.(Gly1013Ser) Unknown - benign g.111653606C>T g.108891326C>T IKBKAP(NM_003640.3):c.3037G>A (p.G1013S) - IKBKAP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3069G>C r.(?) p.(Leu1023=) Unknown - benign g.111653574C>G g.108891294C>G ELP1(NM_003640.3):c.3069G>C (p.L1023=) - IKBKAP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3069G>C r.(?) p.(Leu1023=) Unknown - benign g.111653574C>G g.108891294C>G ELP1(NM_003640.3):c.3069G>C (p.L1023=) - IKBKAP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3213G>C r.(?) p.(Glu1071Asp) Unknown - VUS g.111651621C>G - ELP1(NM_003640.3):c.3213G>C (p.E1071D) - IKBKAP_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3214T>A r.(?) p.(Cys1072Ser) Unknown - benign g.111651620A>T g.108889340A>T IKBKAP(NM_003640.3):c.3214T>A (p.C1072S) - IKBKAP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3222+14C>T r.(=) p.(=) Unknown - likely benign g.111651598G>A g.108889318G>A IKBKAP(NM_003640.3):c.3222+14C>T - IKBKAP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3222+14C>T r.(=) p.(=) Unknown - likely benign g.111651598G>A g.108889318G>A IKBKAP(NM_003640.3):c.3222+14C>T - IKBKAP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3280A>G r.(?) p.(Arg1094Gly) Unknown - VUS g.111644410T>C g.108882130T>C ELP1(NM_003640.3):c.3280A>G (p.R1094G), IKBKAP(NM_003640.3):c.3280A>G (p.R1094G) - IKBKAP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3280A>G r.(?) p.(Arg1094Gly) Unknown - likely benign g.111644410T>C - ELP1(NM_003640.3):c.3280A>G (p.R1094G), IKBKAP(NM_003640.3):c.3280A>G (p.R1094G) - IKBKAP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3285+9C>T r.(=) p.(=) Unknown - benign g.111644396G>A g.108882116G>A IKBKAP(NM_003640.3):c.3285+9C>T - IKBKAP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3347-15A>G r.(=) p.(=) Unknown - likely benign g.111642460T>C g.108880180T>C ELP1(NM_003640.3):c.3347-15A>G, IKBKAP(NM_003640.3):c.3347-15A>G - IKBKAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3347-15A>G r.(=) p.(=) Unknown - likely benign g.111642460T>C g.108880180T>C ELP1(NM_003640.3):c.3347-15A>G, IKBKAP(NM_003640.3):c.3347-15A>G - IKBKAP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3424C>T r.(?) p.(Arg1142Ter) Unknown - VUS g.111642368G>A - ELP1(NM_003640.3):c.3424C>T (p.R1142*) - IKBKAP_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3473C>T r.(?) p.(Pro1158Leu) Unknown - benign g.111641825G>A g.108879545G>A IKBKAP(NM_003640.3):c.3473C>T (p.P1158L) - IKBKAP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3572+5G>T r.spl? p.? Unknown - VUS g.111641721C>A g.108879441C>A IKBKAP(NM_003640.3):c.3572+5G>T - IKBKAP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3573-7C>G r.(=) p.(=) Unknown - likely benign g.111641037G>C g.108878757G>C IKBKAP(NM_003640.3):c.3573-7C>G - IKBKAP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3876T>G r.(?) p.(Thr1292=) Unknown - benign g.111637230A>C g.108874950A>C ELP1(NM_003640.3):c.3876T>G (p.T1292=) - IKBKAP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3979A>C r.(?) p.(Lys1327Gln) Unknown - VUS g.111631415T>G g.108869135T>G IKBKAP(NM_003640.3):c.3979A>C (p.K1327Q) - IKBKAP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*5766G>C r.(=) p.(=) Unknown - likely benign g.111625629C>G g.108863349C>G ACTL7A(NM_006687.2):c.1027C>G (p.(Leu343Val)) - IKBKAP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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