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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RAP1B
(G60R)
Single nucleotide variant
(missense variant +1 more)
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
GPathogenic
RAP1B
Single nucleotide variant
(missense variant)
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
GPathogenic
RAP1B
Single nucleotide variant
(missense variant +1 more)
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
GPathogenic
RAP1B
Single nucleotide variant
(missense variant)
Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies
GPathogenic
RAP1B
(A59G)
Single nucleotide variant
(missense variant +1 more)
See cases
GLikely pathogenic
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