Related gene-specific medical variations for Gene (Select 91662) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248468	NC_000019.9:g.(?_54310729)_(54318262_?)dup	NLRP12	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248467	NC_000019.9:g.(?_54301477)_(54327428_?)dup	NLRP12	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248466	NC_000019.9:g.(?_54297303)_(54297410_?)dup	NLRP12	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248465	NC_000019.9:g.(?_54297303)_(54327428_?)dup	NLRP12	Duplication	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248464	NC_000019.9:g.(?_54307186)_(54327428_?)del	NLRP12	Deletion	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3248463	NC_000019.9:g.(?_54307186)_(54307396_?)del	NLRP12	Deletion	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 3238853	NM_144687.4(NLRP12):c.1328T>C (p.Met443Thr)	NLRP12 (M443T)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2689592	NM_144687.4(NLRP12):c.2520_2522delinsAGT (p.Asp841Val)	NLRP12 (D841V +1 more)	Indel (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 2434379	NM_144687.4(NLRP12):c.2028C>A (p.Asp676Glu)	NLRP12 (D676E)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 1324810	NM_144687.4(NLRP12):c.2879T>A (p.Leu960Ter)	NLRP12 (L960* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial cold autoinflammatory syndrome 2	GLikely pathogenic
Select item 993665	NM_144687.4(NLRP12):c.964C>G (p.Leu322Val)	NLRP12 (L322V)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 993400	NM_144687.4(NLRP12):c.1386C>T (p.Cys462=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2	GLikely benign
Select item 811283	NM_144687.4(NLRP12):c.1894C>T (p.His632Tyr)	NLRP12 (H632Y)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 636911	NM_144687.4(NLRP12):c.11C>T (p.Thr4Ile)	NLRP12 (T4I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 636411	NM_144687.4(NLRP12):c.1616A>G (p.Gln539Arg)	NLRP12 (Q539R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 103263	NM_144687.4(NLRP12):c.968T>C (p.Leu323Pro)	NLRP12 (L323P)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 103262	NM_144687.4(NLRP12):c.290-76A>G	NLRP12	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 103261	NM_144687.4(NLRP12):c.290-33G>A	NLRP12	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102980	NM_144687.4(NLRP12):c.2072+738G>T	NLRP12	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 102979	NM_144687.3(NLRP12):c.*544C>A	NLRP12	Single nucleotide variant	not provided	Gnot provided

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Links from Gene

Items: 20