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Links from MedGen

Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PPFIBP1
(R730* +3 more)
Single nucleotide variant
(nonsense)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(Q298* +3 more)
Single nucleotide variant
(nonsense)
Cerebral calcification
+3 more
GPathogenic
PPFIBP1
(A337fs +3 more)
Deletion
(frameshift variant)
Cerebral calcification
+3 more
GPathogenic
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)
Microcephaly
+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
PPFIBP1
(G579V +3 more)
Single nucleotide variant
(missense variant)
Cerebral calcification
+3 more
GUncertain significance
FARSB
(C76R)
Single nucleotide variant
(missense variant +1 more)
Cerebral calcification
+3 more
GPathogenic
FARSB
(F252S)
Single nucleotide variant
(missense variant +1 more)
Rajab interstitial lung disease with brain calcifications
+4 more
GPathogenic
FARSB
(R401Q)
Single nucleotide variant
(missense variant +1 more)
Cerebral calcification
+3 more
GPathogenic
FARSB
(K262E)
Single nucleotide variant
(missense variant +1 more)
Cerebral calcification
+3 more
GPathogenic
FARSB
(T461P)
Single nucleotide variant
(missense variant +1 more)
Cerebral calcification
+3 more
GPathogenic
Translocation
Cerebral calcification
+12 more
GLikely pathogenic
OCLN
(Y172fs)
Duplication
(frameshift variant +1 more)
Pseudo-TORCH syndrome 1
GUncertain significance
COL4A1
(G696S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
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