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Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C2, C2-AS1
(E318D +3 more)
Single nucleotide variant
(missense variant +1 more)
Complement component 2 deficiency
+3 more
GBenign/Likely benign
C2, CFB
(V641A +4 more)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+4 more
GBenign/Likely benign
C2, CFB
(L9H)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome
+8 more
GBenign/Likely benign
C2, CFB
(R32Q)
Single nucleotide variant
(missense variant)
Macular degeneration
+7 more
GBenign/Likely benign
C2, CFB
Single nucleotide variant
(synonymous variant)
Complement component 2 deficiency
+5 more
GBenign/Likely benign
C2, CFB
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
C2, CFB
Single nucleotide variant
(synonymous variant)
Complement component 2 deficiency
+5 more
GBenign/Likely benign
C2, CFB
Single nucleotide variant
(synonymous variant)
Complement component 2 deficiency
+5 more
GBenign/Likely benign
C2, CFB
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
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