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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZMPSTE24
(W102*)
Single nucleotide variant
(nonsense)
Restrictive dermopathy 1
GPathogenic
ZMPSTE24
(Q157*)
Single nucleotide variant
(nonsense)
Restrictive dermopathy 1
+1 more
GPathogenic
ZMPSTE24
Duplication
(inframe_insertion)
Restrictive dermopathy 1
+1 more
GLikely pathogenic
ZMPSTE24
Duplication
(splice donor variant)
Restrictive dermopathy 1
GPathogenic
ZMPSTE24
(L362fs)
Duplication
(frameshift variant)
Lethal tight skin contracture syndrome
+4 more
GPathogenic
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