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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNF13
(I36V)
Single nucleotide variant
(missense variant +3 more)
Developmental and epileptic encephalopathy, 73
GUncertain significance
RNF13
(E188* +2 more)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy, 73
GLikely pathogenic
RNF13
(N88Y)
Single nucleotide variant
(missense variant +2 more)
Developmental and epileptic encephalopathy, 73
GUncertain significance
RNF13
(P179fs +2 more)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 73
GUncertain significance
RNF13
(Q169* +2 more)
Single nucleotide variant
(nonsense +1 more)
Developmental and epileptic encephalopathy, 73
GUncertain significance
RNF13
(S186fs +2 more)
Deletion
(frameshift variant +1 more)
Developmental and epileptic encephalopathy, 73
GUncertain significance
RNF13
Single nucleotide variant
(synonymous variant +1 more)
Developmental and epileptic encephalopathy, 73
+1 more
GBenign
RNF13
(K205E +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 73
GUncertain significance
RNF13
Microsatellite
(nonsense +1 more)
Developmental and epileptic encephalopathy, 73
+1 more
GPathogenic/Likely pathogenic
RNF13
(T218A +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 73
+1 more
GUncertain significance
RNF13
(L312P +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 73
GPathogenic
RNF13
(L311S +2 more)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 73
GPathogenic
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