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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CISD3, PCGF2
(T305I)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CISD3, PCGF2
(P302T)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CISD3, PCGF2
(P282A)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
CISD3, PCGF2
(P242L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GUncertain significance
PCGF2
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
PCGF2
(P65L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
PCGF2
(H176P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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