"SIB Swiss Institute of Bioinformatics"[submitter] AND "GINS1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 487511	NM_021067.5(GINS1):c.247C>T (p.Arg83Cys)	GINS1 (R83C)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to GINS1 deficiency +1 more	GConflicting classifications of pathogenicity
Select item 487513	NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr)	GINS1 (C152Y)	Single nucleotide variant (missense variant +1 more)	Combined immunodeficiency due to GINS1 deficiency	GLikely pathogenic