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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZMPSTE24
(Y215C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ZMPSTE24
(K273fs)
Deletion
(frameshift variant)
not provided
GPathogenic
ZMPSTE24
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ZMPSTE24
Microsatellite
(splice donor variant)
Mandibuloacral dysplasia
+3 more
GConflicting classifications of pathogenicity
ZMPSTE24
(A422fs)
Duplication
(frameshift variant)
not provided
GPathogenic
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