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 1	c.70T>C	p.(Phe24Leu)	F24L	Likely pathogenic	To be validated	2023-08-24
exon 1	c.160G>A	p.(Ala54Thr)	A54T	Likely pathogenic	To be validated	2019-11-08	2022-06-02
exon 1	c.175G>C	p.(Ala59Pro)	A59P	Likely pathogenic	To be validated	2020-01-28
exon 1	c.197C>T	p.(Ala66Val)	A66V	Likely pathogenic	To be validated	2019-11-08	2022-06-02
exon 1	c.230T>C	p.(Met77Thr)	M77T	Likely pathogenic	To be validated	2018-10-01	2022-06-02
exon 2	c.412A>T	p.(Arg138Ter)	R138*	Uncertain significance (VUS)	To be validated	2024-03-06
exon 4	c.868A>G	p.(Arg290Gly)	R290G	Likely benign	To be validated	2024-03-06
exon 4	c.1054G>T	p.(Gly352Trp)	G352W	Uncertain significance (VUS)	To be validated	2024-03-06
exon 4	c.1325G>A	p.(Ser442Asn)	S442N	Uncertain significance (VUS)	To be validated	2024-04-26
exon 4	c.1886T>G	p.(Phe629Cys)	F629C	Uncertain significance (VUS)	To be validated	2024-04-30
exon 4	c.1998T>G	p.(Phe666Leu)	F666L	Uncertain significance (VUS)	To be validated	2024-03-06
exon 4	c.2036G>A	p.(Ser679Asn)	S679N	Uncertain significance (VUS)	To be validated	2024-03-20	2024-03-20
exon 4	c.2176C>T	p.(Arg726Trp)	R726W	Likely pathogenic	To be validated	2018-10-01	2022-06-02
exon 4	c.2264C>A	p.(Thr755Asn)	T755N	Not classified	To be validated	2019-11-08
exon 5	c.2359_2529del	p.(Phe787_Arg843del)	F787_R843del	Likely pathogenic	To be validated	2019-11-08	2022-06-02
exon 5	c.2438T>C	p.(Leu813Pro)	L813P	Likely pathogenic	To be validated	2023-02-14
exon 5	c.2478G>C	p.(Lys826Asn)	K826N	Uncertain significance (VUS)	To be validated	2024-10-25
exon 7	c.2803G>A	p.(Asp935Asn)	D935N	Likely benign	To be validated	2024-03-06
exon 12	c.3306C>G	p.(Phe1102Leu)	F1102L	Uncertain significance (VUS)	To be validated	2023-12-06
exon 12	c.3325C>T	p.(Arg1109Cys)	R1109C	Likely benign	To be validated	2024-03-06
exon 13	c.3641C>T	p.(Pro1214Leu)	P1214L	Likely pathogenic	To be validated	2021-05-27	2022-06-02
exon 13	c.3641C>G	p.(Pro1214Arg)	P1214R	Pathogenic	To be validated	2018-10-01	2024-03-25
exon 17	c.4151A>C	p.(Gln1384Pro)	Q1384P	Uncertain significance (VUS)	To be validated	2024-03-06
exon 17	c.4260C>A	p.(Asn1420Lys)	N1420K	Likely benign	To be validated	2024-03-05
exon 17	c.4270A>T	p.(Ser1424Cys)	S1424C	Uncertain significance (VUS)	To be validated	2024-03-06

NLRP1 (NM_033004.4) sequence variants (CARD7, CLR17.1, DEFCAP, DKFZp586O1822, KIAA0926, NAC, "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1", VAMAS1)

NLRP1 (NM_033004.4) sequence variants
(CARD7, CLR17.1, DEFCAP, DKFZp586O1822, KIAA0926, NAC, "nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1", VAMAS1)