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Links from MedGen

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARV1
(I198fs +1 more)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 38
GLikely pathogenic
ARV1
(R231C +1 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 38
GUncertain significance
ARV1
(L192fs +1 more)
Microsatellite
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 38
GLikely pathogenic
ARV1
Inversion
(splice acceptor variant)
Developmental and epileptic encephalopathy, 38
GPathogenic
ARV1
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 38
GBenign
ARV1, LOC129932761
(Q10R)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 38
GUncertain significance
ARV1
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 38
GLikely pathogenic
ARV1
Deletion
(splice donor variant)
Developmental and epileptic encephalopathy, 38
GUncertain significance
ARV1
(S122fs)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 38
GLikely pathogenic
LOC129932761, ARV1
(C34Y)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 38
+1 more
GUncertain significance
ARV1
(P207fs +1 more)
Duplication
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 38
+1 more
GPathogenic/Likely pathogenic
ARV1
Single nucleotide variant
(splice acceptor variant)
Developmental and epileptic encephalopathy, 38
+1 more
GConflicting classifications of pathogenicity
ARV1
Single nucleotide variant
(splice donor variant)
ARV1-related disorder
GPathogenic
ARV1
(G189R +1 more)
Single nucleotide variant
(missense variant +1 more)
Abnormality of the nervous system
GLikely pathogenic
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