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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CISD3, PCGF2
Deletion
(3 prime UTR variant +1 more)
Wolfram syndrome 2
+1 more
GUncertain significance
PCGF2
(N50fs)
Duplication
(frameshift variant)
Turnpenny-fry syndrome
GUncertain significance
PCGF2
(D210G)
Single nucleotide variant
(missense variant)
Turnpenny-fry syndrome
GUncertain significance
CISD3, PCGF2
(G221R)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
PCGF2
(E198K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PCGF2
Single nucleotide variant
(synonymous variant)
PCGF2-related disorder
+2 more
GBenign
PCGF2
(P65S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GLikely pathogenic
PCGF2
(P65L)
Single nucleotide variant
(missense variant)
Intellectual disability
+4 more
GPathogenic/Likely pathogenic
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