C2673198[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 945830	NM_144687.4(NLRP12):c.3088C>T (p.Arg1030Ter)	NLRP12 (R1031* +2 more)	Single nucleotide variant (nonsense)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 751699	NM_144687.4(NLRP12):c.2785G>A (p.Ala929Thr)	NLRP12 (A930T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial cold autoinflammatory syndrome 2	GBenign/Likely benign
Select item 97890	NM_144687.4(NLRP12):c.2784C>T (p.Ala928=)	NLRP12	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +1 more	GBenign
Select item 330016	NM_144687.4(NLRP12):c.2576G>A (p.Arg859Gln)	NLRP12 (R859Q +1 more)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GBenign
Select item 1492824	NM_144687.4(NLRP12):c.2110C>T (p.His704Tyr)	NLRP12 (H704Y +1 more)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2	GUncertain significance
Select item 811868	NM_144687.4(NLRP12):c.2072+2_2072+3insTT	NLRP12	Insertion (splice donor variant)	not specified +2 more	GUncertain significance
Select item 469090	NM_144687.4(NLRP12):c.1886C>A (p.Ala629Asp)	NLRP12 (A629D)	Single nucleotide variant (missense variant)	Familial cold autoinflammatory syndrome 2 +1 more	GUncertain significance
Select item 536947	NM_144687.4(NLRP12):c.1437G>A (p.Gln479=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +2 more	GBenign/Likely benign
Select item 536938	NM_144687.4(NLRP12):c.1299A>G (p.Ala433=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +2 more	GBenign/Likely benign
Select item 1596	NM_144687.4(NLRP12):c.850C>T (p.Arg284Ter)	NLRP12 (R284*)	Single nucleotide variant (nonsense)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 536937	NM_144687.4(NLRP12):c.819T>C (p.Pro273=)	NLRP12	Single nucleotide variant (synonymous variant)	Familial cold autoinflammatory syndrome 2 +2 more	GBenign/Likely benign
Select item 469095	NM_144687.4(NLRP12):c.536C>T (p.Thr179Ile)	NLRP12 (T179I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance