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Links from MedGen

Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADARB1
Deletion
(splice donor variant)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GPathogenic
ADARB1
(R630Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GPathogenic
ADARB1
(R115C +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GUncertain significance
ADARB1
(M238T +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GUncertain significance
ADARB1
(V169M +4 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GUncertain significance
ADARB1
(K137del +1 more)
Deletion
(inframe_deletion +2 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GUncertain significance
CPSF3
(I354T +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GPathogenic
CPSF3
(G468E +3 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GPathogenic
ADARB1
(A729T)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GBenign
ADARB1
(F434fs +1 more)
Duplication
(frameshift variant +1 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GUncertain significance
ADARB1
(T498A +1 more)
Single nucleotide variant
(intron variant +2 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
+1 more
GUncertain significance
ADARB1
(A722V +1 more)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GPathogenic
ADARB1
(R603Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GPathogenic
ADARB1
(K127E +1 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GPathogenic
ADARB1
(S538G +2 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with hypotonia, microcephaly, and seizures
GPathogenic
ADARB1
(K367N +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Syndromic intellectual disability
GUncertain significance
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