ClinVar for MedGen (Select 1794260) - ClinVar - NCBI

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Items: 6

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 18022301.	NM_001164760.2(PRKAR1B):c.570G>A (p.Trp190Ter) GRCh37: Chr7:635921 GRCh38: Chr7:596284	PRKAR1B	W190*	Marbach-Schaaf neurodevelopmental syndrome	Likely pathogenic (Aug 24, 2022)	criteria provided, single submitter
Select item 16843012.	NM_001164760.2(PRKAR1B):c.809C>T (p.Ala270Val) GRCh37: Chr7:618975 GRCh38: Chr7:579338	PRKAR1B	A270V	Marbach-Schaaf neurodevelopmental syndrome	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 15262123.	NM_001164760.2(PRKAR1B):c.1142T>G (p.Val381Gly) GRCh37: Chr7:590071 GRCh38: Chr7:550434	PRKAR1B	V381G	Marbach-Schaaf neurodevelopmental syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 13290894.	NM_001164760.2(PRKAR1B):c.500_501inv (p.Gln167Leu) GRCh37: Chr7:647029-647030 GRCh38: Chr7:607392-607393	PRKAR1B, PRKAR1B-AS1		Marbach-Schaaf neurodevelopmental syndrome	Pathogenic (Dec 23, 2021)	no assertion criteria provided
Select item 13290885.	NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys) GRCh37: Chr7:635905 GRCh38: Chr7:596268	PRKAR1B		Marbach-Schaaf neurodevelopmental syndrome	Conflicting interpretations of pathogenicity (Dec 7, 2022)	criteria provided, conflicting interpretations
Select item 11725356.	NM_001164760.2(PRKAR1B):c.1003C>T (p.Arg335Trp) GRCh37: Chr7:590210 GRCh38: Chr7:550573	PRKAR1B	R335W	PRKAR1B-related neurodevelopmental disorder, not provided	Pathogenic/Likely pathogenic (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts