U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AHDC1
(Y967fs)
Deletion
(frameshift variant)
Delayed speech and language development
+2 more
GPathogenic
AHDC1
(S850fs)
Deletion
(frameshift variant)
Delayed speech and language development
+3 more
GPathogenic
AHDC1
(C791fs)
Microsatellite
(frameshift variant)
not provided
+4 more
GPathogenic
PURA
Deletion
(inframe_indel)
Seizure
+4 more
GPathogenic
PURA
(A89P)
Single nucleotide variant
(missense variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GLikely pathogenic
PURA
(K97E)
Single nucleotide variant
(missense variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
+5 more
GPathogenic
PURA
(L100P)
Single nucleotide variant
(missense variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GLikely pathogenic
PURA
(S103fs)
Microsatellite
(frameshift variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
GPathogenic
PURA
(Y121*)
Single nucleotide variant
(nonsense)
Abnormality of the nervous system
+2 more
GPathogenic/Likely pathogenic
PURA
(M157K)
Single nucleotide variant
(missense variant)
Global developmental delay
+3 more
GPathogenic
PURA
(Q186*)
Single nucleotide variant
(nonsense)
Seizure
+5 more
GPathogenic
PURA
(R199P)
Single nucleotide variant
(missense variant)
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
+1 more
GPathogenic/Likely pathogenic
PURA
(Y261*)
Single nucleotide variant
(nonsense)
Seizure
+4 more
GPathogenic
PURA
(F271del)
Deletion
(inframe_deletion)
not provided
+1 more
GPathogenic
Format
Items per page
Sort by
Choose Destination