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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C5
(R1476* +1 more)
Single nucleotide variant
(nonsense)
Complement component 5 deficiency
+2 more
GPathogenic
C5
(A252T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C5
(R32H +1 more)
Single nucleotide variant
(missense variant)
Complement component 5 deficiency
+1 more
GUncertain significance
C5
(T22I)
Single nucleotide variant
(missense variant +1 more)
Complement component 5 deficiency
+1 more
GUncertain significance
C5
(Q19*)
Single nucleotide variant
(nonsense +1 more)
not provided
+3 more
GPathogenic
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