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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MMP14
Single nucleotide variant
(missense variant)
Winchester syndrome
GPathogenic
MMP14
(F181S)
Single nucleotide variant
(missense variant)
Winchester syndrome
GUncertain significance
MMP14
(A147V)
Single nucleotide variant
(missense variant)
Winchester syndrome
GUncertain significance
MMP14
Single nucleotide variant
(splice donor variant)
Winchester syndrome
GUncertain significance
MMP14
(T17R)
Single nucleotide variant
(missense variant)
Winchester syndrome
GPathogenic
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