Infevers - Tabular list

^*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

Location	HGVS sequence name	HGVS protein name	Usual name^*	Classification^**	Status^**	Input date	Last update
exon 8	c.698C>T	p.(Thr233Ile)	T233I	Uncertain significance (VUS)	To be validated	2023-11-27
exon 23	c.2681T>G	p.(Ile894Ser)	I894S	Uncertain significance (VUS)	To be validated	2023-11-20
exon 16	c.1817A>T	p.(Asn606Ile)	N606I	Uncertain significance (VUS)	To be validated	2023-11-20
exon 3	c.121A>T	p.(Met41Leu)	M41L_A>T	Not classified	To be validated	2023-03-03
exon 14	c.1430G>C	p.(Gly477Ala)	G477A	Likely pathogenic	To be validated	2023-02-12
exon 3	c.119G>C	p.(Gly40Ala)	G40A	Uncertain significance (VUS)	To be validated	2022-09-27
intron 2	c.118-2A>G	p.?	c.118-2A>G	Pathogenic	To be validated	2022-09-19
intron 2	c.118-2A>T	p.?	c.118-2A>T	Likely pathogenic	To be validated	2022-09-19
intron 2	c.118-3T>A	p.?	c.118-3T>A	Uncertain significance (VUS)	To be validated	2022-09-19
exon 16	c.1861A>T	p.(Ser621Cys)	S621C	Likely pathogenic	To be validated	2022-09-19	2023-02-02
intron 2	c.118-9_118-2del	p.?	c.118-9_118-2del	Pathogenic	To be validated	2022-01-10	2022-01-10
exon 3	c.167C>T	p.(Ser56Phe)	S56F	Likely pathogenic	To be validated	2021-05-27	2021-11-24
exon 3	c.118-1G>C	p.Gly40_Lys43del	c.118-1G>C	Pathogenic	To be validated	2021-04-15	2021-11-09
exon 3	c.121A>C	p.Met41Leu	M41L	Pathogenic	To be validated	2020-11-18	2021-03-31
exon 3	c.122T>C	p.Met41Thr	M41T	Pathogenic	To be validated	2020-11-18	2021-03-31
exon 3	c.121A>G	p.Met41Val	M41V	Pathogenic	To be validated	2020-11-18	2021-03-31

UBA1 (NM_003334.4) sequence variants (A1S9, A1ST, GXP1, UBE1, A1S9T, AMCX1, POC20, SMAX2, UBA1A, UBE1X, CFAP124)