C4014617[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 402571	NM_001905.4(CTPS1):c.1094+14G>A	CTPS1	Single nucleotide variant (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency +2 more	GBenign
Select item 1165019	NM_001905.4(CTPS1):c.1449+14C>G	CTPS1	Single nucleotide variant (non-coding transcript variant +1 more)	Severe combined immunodeficiency due to CTPS1 deficiency +2 more	GBenign
Select item 1255416	NM_001905.4(CTPS1):c.1547-32A>G	CTPS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign

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