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Links from MedGen

Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DHPS
(R112fs +1 more)
Deletion
(frameshift variant +2 more)
Neurodevelopmental disorder with seizures and speech and walking impairment
GLikely pathogenic
WDR83OS, WDR83
Single nucleotide variant
(intron variant +1 more)
Neurodevelopmental disorder with seizures and speech and walking impairment
GUncertain significance
LOC112543448, DHPS
(M1V)
Single nucleotide variant
(missense variant +3 more)
not provided
GUncertain significance
DHPS
Single nucleotide variant
(splice donor variant +1 more)
Neurodevelopmental disorder with seizures and speech and walking impairment
+1 more
GConflicting classifications of pathogenicity
DHPS
Deletion
(inframe_deletion +2 more)
Neurodevelopmental disorder with seizures and speech and walking impairment
+2 more
GConflicting classifications of pathogenicity
DHPS
(N173S +1 more)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder with seizures and speech and walking impairment
+2 more
GPathogenic/Likely pathogenic
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