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Links from MedGen

Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLAA
(R476H +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GUncertain significance
PLAA
(W577* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GLikely pathogenic
PLAA
(P346T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GUncertain significance
PLAA
(C72Y)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GUncertain significance
PLAA
(P630I +1 more)
Indel
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
+1 more
GUncertain significance
PLAA
(R501* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GLikely pathogenic
PLAA
(P161S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLAA
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
PLAA
(I356M)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
+2 more
GUncertain significance
PLAA
(D284fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GLikely pathogenic
PLAA
(T114A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLAA
(T304R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLAA
Single nucleotide variant
(5 prime UTR variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GUncertain significance
PLAA
(G457A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLAA
(Y752H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLAA
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GPathogenic
PLAA
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GPathogenic
PLAA
(D755G +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
PLAA
(D40E)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GPathogenic
TRAPPC4
Single nucleotide variant
(intron variant)
Neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy
+2 more
GPathogenic/Likely pathogenic
PLAA
(P81*)
Insertion
(nonsense)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GPathogenic
PLAA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
PLAA
Deletion
(nonsense)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GLikely pathogenic
PLAA
(L24fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GPathogenic
PLAA
(G23V)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GPathogenic
PLAA
(L752F +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies
GPathogenic
HECW2
(R1330W +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
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