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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPFIBP1
(R135*)
Single nucleotide variant
(5 prime UTR variant +1 more)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(Q354* +3 more)
Single nucleotide variant
(nonsense)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(R658* +3 more)
Single nucleotide variant
(nonsense)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(E320fs +3 more)
Microsatellite
(frameshift variant)
Intellectual disability, severe
+3 more
GPathogenic
PPFIBP1
(Y738fs +3 more)
Deletion
(frameshift variant)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
+4 more
GPathogenic
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