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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NLRP3
(V198M +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome
+11 more
GConflicting classifications of pathogenicity
NLRP3
(S549C +1 more)
Single nucleotide variant
(missense variant)
Chronic infantile neurological, cutaneous and articular syndrome
+8 more
GConflicting classifications of pathogenicity
NLRP3
(E607V +1 more)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal dominant 34, with or without inflammation
+5 more
GUncertain significance
NLRP3
(D702N +1 more)
Single nucleotide variant
(missense variant)
Familial cold autoinflammatory syndrome 1
+6 more
GConflicting classifications of pathogenicity
NLRP3
Single nucleotide variant
(splice donor variant)
Familial amyloid nephropathy with urticaria AND deafness
+4 more
GUncertain significance
NLRP3
(L1016F +3 more)
Single nucleotide variant
(missense variant)
Cryopyrin associated periodic syndrome
+7 more
GConflicting classifications of pathogenicity
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