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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
P4HA2
(T261K)
Single nucleotide variant
(missense variant)
Myopia 25, autosomal dominant
GUncertain significance
P4HA2
(A76S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
P4HA2
(V451fs)
Microsatellite
(frameshift variant +1 more)
Myopia 25, autosomal dominant
GPathogenic
P4HA2
(Q140R)
Single nucleotide variant
(missense variant)
Myopia 25, autosomal dominant
GPathogenic
P4HA2
(E291K)
Single nucleotide variant
(missense variant)
Myopia 25, autosomal dominant
GPathogenic
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