OTULIN (NM_138348.6) sequence variants
(GUM, AIPDS, FAM105B)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for OTULIN : 12

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

** If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 4
c.384_395dup
p.(Leu131_Arg132insSerCysAlaLeu)
p.Leu131_ Arg132insLeuCysThrGlu
Likely pathogenicTo be validated
 2022-08-102022-08-10
exon 3
c.244G>A
p.(Val82Ile)
V82I
Likely pathogenicTo be validated
 2022-08-102022-08-10
exon 2
c.209T>C
p.(Ile70Thr)
I70T
Uncertain significance (VUS)To be validated
 2022-02-21 
exon 3
c.258G>A
p.(Met86Ile)
M86I
Likely pathogenicTo be validated
 2022-02-21 
exon 4
c.345G>T
p.(Gln115His)
Q115H
Uncertain significance (VUS)To be validated
 2022-02-21 
exon 5
c.500G>C
p.(Trp167Ser)
W167S
Likely pathogenicTo be validated
 2022-02-21 
exon 6
c.606G>C
p.(Leu202Phe)
L202F
Not classifiedTo be validated
 2019-05-132019-05-14
exon 1
c.119A>G
p.(Gln40Arg)
Q40R
Not classifiedTo be validated
 2019-05-13 
intron 6
c.864+2T>C
p.?
c.864+2T>C
Likely pathogenicTo be validated
 2019-02-26 
exon 5
c.517del
p.(Gly174Aspfs*2)
G174Dfs*2
Not classifiedTo be validated
 2017-04-282019-02-28
exon 6
c.815T>C
p.(Leu272Pro)
L272P
Not classifiedTo be validated
 2017-04-28 
exon 6
c.731A>G
p.(Tyr244Cys)
Y244C
Not classifiedTo be validated
 2017-04-28