"3billion"[submitter] AND "PPP1R21"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2572420	NM_001135629.3(PPP1R21):c.126+2T>C	PPP1R21	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GLikely pathogenic
Select item 1333266	NM_001135629.3(PPP1R21):c.1171del (p.Lys390_Met391insTer)	PPP1R21	Deletion (nonsense +1 more)	Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities	GLikely pathogenic