"Rady Children's Institute for Genomic Medicine, Rady Children's Hospi - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2584516	NM_001346249.2(RALGAPA1):c.7152_7155dup (p.Phe2386fs)	RALGAPA1 (F1880fs +4 more)	Duplication (frameshift variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GLikely pathogenic
Select item 2584515	NM_001346249.2(RALGAPA1):c.1449+1G>T	RALGAPA1	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with hypotonia, neonatal respiratory insufficiency, and thermodysregulation	GLikely pathogenic