Related gene-specific medical variations for Gene (Select 338321) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3300124	NM_176820.4(NLRP9):c.2844G>C (p.Gly948=)	EPN1, NLRP9	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2650541	NM_176820.4(NLRP9):c.2943C>T (p.Asp981=)	EPN1, NLRP9	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2348971	NM_176820.4(NLRP9):c.2944G>A (p.Glu982Lys)	EPN1, NLRP9 (E982K)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 132883	NM_176820.4(NLRP9):c.2843+28G>A	NLRP9	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 132882	NM_176820.4(NLRP9):c.2752C>T (p.Leu918=)	NLRP9	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 132881	NM_176820.4(NLRP9):c.2672+114C>T	NLRP9	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 132880	NM_176820.4(NLRP9):c.2502-40C>G	NLRP9	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 132879	NM_176820.4(NLRP9):c.2330+743G>T	NLRP9	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 132878	NM_176820.4(NLRP9):c.20C>T (p.Ser7Leu)	NLRP9 (S7L)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 132877	NM_176820.4(NLRP9):c.1218T>C (p.Tyr406=)	NLRP9	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 132876	NM_176820.4(NLRP9):c.1056G>C (p.Glu352Asp)	NLRP9 (E352D)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 132875	NM_176820.4(NLRP9):c.1022G>T (p.Trp341Leu)	NLRP9 (W341L)	Single nucleotide variant (missense variant)	not provided	Gnot provided