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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZNF687
(H565Q)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
ZNF687
(P937H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ZNF687
(S242I)
Single nucleotide variant
(missense variant)
Paget disease of bone 6
GPathogenic
ZNF687
(P937R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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