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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860395, PLAG1
(E100V +1 more)
Single nucleotide variant
(missense variant)
Silver-russell syndrome 4
GUncertain significance
PLAG1, LOC126860395
(S147fs +1 more)
Deletion
(frameshift variant)
Silver-russell syndrome 4
GLikely pathogenic
LOC126860395, PLAG1
(F172fs +1 more)
Duplication
(frameshift variant)
Silver-russell syndrome 4
GUncertain significance
LOC126860395, PLAG1
(S147fs +1 more)
Deletion
(frameshift variant)
Silver-russell syndrome 4
+1 more
GPathogenic
PLAG1
(Q373fs +1 more)
Deletion
(frameshift variant)
Silver-russell syndrome 4
+1 more
GPathogenic
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