ClinVar for MedGen (Select 1846947) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3377234	NM_001010942.3(RAP1B):c.11A>G (p.Tyr4Cys)	RAP1B (Y4C)	Single nucleotide variant (missense variant)	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	GUncertain significance
Select item 2674587	NM_001010942.3(RAP1B):c.178G>A (p.Gly60Arg)	RAP1B (G60R)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	GPathogenic
Select item 2672309	NM_001010942.3(RAP1B):c.35G>A (p.Gly12Glu)	RAP1B	Single nucleotide variant (missense variant)	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	GPathogenic
Select item 2672307	NM_001010942.3(RAP1B):c.178G>C (p.Gly60Arg)	RAP1B	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	GPathogenic
Select item 2672306	NM_001010942.3(RAP1B):c.35G>T (p.Gly12Val)	RAP1B	Single nucleotide variant (missense variant)	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	GPathogenic
Select item 1300148	NM_001010942.3(RAP1B):c.176C>G (p.Ala59Gly)	RAP1B (A59G)	Single nucleotide variant (missense variant +1 more)	See cases	GLikely pathogenic

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