"Revvity Omics, Revvity"[submitter] AND "IGFALS"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 318251	NM_004970.3(IGFALS):c.827A>G (p.Asn276Ser)	IGFALS (N276S +1 more)	Single nucleotide variant (missense variant +1 more)	Short stature due to primary acid-labile subunit deficiency	GLikely pathogenic
Select item 2432821	NM_004970.3(IGFALS):c.17-144G>C	IGFALS	Single nucleotide variant (intron variant)	Short stature due to primary acid-labile subunit deficiency	GUncertain significance