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Links from MedGen

Items: 10

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBPJ
(S7*)
Single nucleotide variant
(nonsense +2 more)
Adams-Oliver syndrome 3
GUncertain significance
LOC126807011, RBPJ
(Y25C +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
GUncertain significance
LOC126807011, RBPJ
(R30T +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
GLikely pathogenic
RBPJ
(E405K +5 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
GUncertain significance
RBPJ
(R15Q +3 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
RBPJ
(S332R +3 more)
Single nucleotide variant
(missense variant +1 more)
Adams-Oliver syndrome 3
GLikely pathogenic
RBPJ
(F66V +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
GLikely pathogenic
LOC126807011, RBPJ
(R65G +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
+1 more
GLikely pathogenic
RBPJ
(K169E +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
GPathogenic
LOC126807011, RBPJ
(E63G +4 more)
Single nucleotide variant
(missense variant)
Adams-Oliver syndrome 3
GPathogenic
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