ClinVar for MedGen (Select 1794260) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067879	NM_001164760.2(PRKAR1B):c.913C>T (p.Arg305Cys)	PRKAR1B (R305C)	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 3066190	NC_000007.14:g.584568_584569del	PRKAR1B	Deletion	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 1802230	NM_001164760.2(PRKAR1B):c.570G>A (p.Trp190Ter)	PRKAR1B (W190*)	Single nucleotide variant (nonsense)	Marbach-Schaaf neurodevelopmental syndrome	GLikely pathogenic
Select item 1684301	NM_001164760.2(PRKAR1B):c.809C>T (p.Ala270Val)	PRKAR1B (A270V)	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 1526212	NM_001164760.2(PRKAR1B):c.1142T>G (p.Val381Gly)	PRKAR1B (V381G)	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GUncertain significance
Select item 1329089	NM_001164760.2(PRKAR1B):c.500_501inv (p.Gln167Leu)	PRKAR1B, PRKAR1B-AS1	Inversion (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GPathogenic
Select item 1329088	NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys)	PRKAR1B	Single nucleotide variant (missense variant)	Marbach-Schaaf neurodevelopmental syndrome	GConflicting classifications of pathogenicity
Select item 1172535	NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp)	PRKAR1B (R335W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic