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Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CP
(G895A)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CP
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
CP
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CP
Single nucleotide variant
(intron variant)
Deficiency of ferroxidase
+2 more
GBenign/Likely benign
CP
(T841R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
+2 more
GBenign/Likely benign
CP
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
CP
(T551I)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
CP
(E544D)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
CP
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
CP
(Y239F)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CP
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
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