"Human Evolutionary Genetics, Institut Pasteur"[submitter] AND "NLRP1" - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 103013	NM_001033053.3(NLRP1):c.*351T>A	NLRP1	Single nucleotide variant (3 prime UTR variant)	not provided	Gnot provided
Select item 103030	NM_033004.4(NLRP1):c.4103-161A>G	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103029	NM_033004.4(NLRP1):c.4057+217T>C	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103028	NM_033004.4(NLRP1):c.4057+205G>C	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103027	NM_033004.4(NLRP1):c.3915+121G>C	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103026	NM_033004.4(NLRP1):c.3784-240C>G	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103025	NM_033004.4(NLRP1):c.3747C>A (p.His1249Gln)	NLRP1 (H1253Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 103024	NM_033004.4(NLRP1):c.3521-91A>G	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103023	NM_033004.4(NLRP1):c.3521-107G>A	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103022	NM_033004.4(NLRP1):c.3186T>G (p.Pro1062=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 103021	NM_033004.4(NLRP1):c.2870+58A>G	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103020	NM_033004.4(NLRP1):c.2817G>A (p.Val939=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 103017	NM_033004.4(NLRP1):c.2699+368G>A	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103016	NM_033004.4(NLRP1):c.2529-18G>T	NLRP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 103015	NM_033004.4(NLRP1):c.1916A>T (p.Asp639Val)	NLRP1 (D639V)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 103033	NM_033004.4(NLRP1):c.448+292C>T	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103032	NM_033004.4(NLRP1):c.448+109C>G	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103031	NM_033004.4(NLRP1):c.438C>A (p.Arg146=)	NLRP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 103019	NM_033004.4(NLRP1):c.271+186G>A	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103018	NM_033004.4(NLRP1):c.271+181G>A	NLRP1	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103014	NM_033004.4(NLRP1):c.-159C>T	LOC126862475, NLRP1	Single nucleotide variant (5 prime UTR variant)	not provided	Gnot provided

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Items: 21