"Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan"[submitte - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628285	NM_001905.4(CTPS1):c.555+43G>A	CTPS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628230	NM_001905.4(CTPS1):c.721-76G>C	CTPS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628222	NM_001905.4(CTPS1):c.873-80T>C	CTPS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688477	NM_001905.4(CTPS1):c.1006-151T>A	CTPS1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 1166833	NM_001905.4(CTPS1):c.1006-19_1006-18del	CTPS1	Deletion (intron variant)	Severe combined immunodeficiency due to CTPS1 deficiency +1 more	GBenign
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 2688364	NM_001905.4(CTPS1):c.1252+818A>C	CTPS1, LOC129930292	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2628255	NM_001905.4(CTPS1):c.1393+66A>G	CTPS1, LOC126805717	Single nucleotide variant (intron variant)	not specified	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