IL10RB (NM_000628.4) sequence variants
(CDW210B, CRF2-4, CRFB4, D21S58, D21S66, IL-10R2)

Editor(s): Erik GLOCKER   

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ADA2 (DADA2)AP1S3 (_)CARD14 (PRP/PSORS2)IL10 (IL10 deficiency)IL10RA (IL10R1 deficiency)IL10RB (IL10R2 deficiency)IL1RN (DIRA)IL36RN (DITRA)LACC1 (sJIA)LPIN2 (Majeed Syndrome)
MEFV (FMF)MVK (MKD/DSAP/RP)NCSTN (PASH)NLRC4 (AIFEC)NLRP1 (NAIAD)NLRP12 (NAPS12)NLRP3 (CAPS)NLRP7 (HYDM1)NOD2 (CD/BS/EOS)OTULIN (AIPDS)
PLCG2 (APLAID/PLAID)POMP (PRAAS2)PSMA3 (CANDLE/PRAAS)PSMB4 (CANDLE/PRAAS3)PSMB8 (JMP/NNS/CANDLE)PSMB9 (CANDLE/PRAAS3)PSMG2 (CANDLE/PRAAS4)PSTPIP1 (PAPA)RBCK1 (PBMEI)
SH3BP2 (Cherubism)SLC29A3 (H syndrome)TMEM173 (SAVI)TNFAIP3 (AISBL)TNFRSF11A (TRAPS11)TNFRSF1A (TRAPS)TRNT1 (SIFD)WDR1 (PFIT)

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Total current number of sequence variants for IL10RB : 6

*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 2
c.53delT
p.(Leu18Trpfs*12)
W18fsX29
Not classifiedTo be validated
 2013-01-09
exon 3
c.197G>A
p.(Cys66Tyr)
C66Y
Not classifiedTo be validated
 2012-11-29
intron 3
c.331+1G>C
p.(Leu59fs*72)
IVS3+1G>C
Not classifiedTo be validated
 2013-01-09
exon 4
c.477G>A
p.(Trp159*)
W159X
Not classifiedTo be validated
 2012-11-29
exon 5
c.611G>A
p.(Trp204*)
W204X
Not classifiedTo be validated
 2012-11-29
exon 5
c.689C>A
p.(Ser230*)
S230X
Not classifiedTo be validated
 2012-11-29