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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2121884	NM_005337.5(NCKAP1L):c.867C>G (p.Leu289=)	NCKAP1L	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2688222	NM_005337.5(NCKAP1L):c.1095+61G>A	NCKAP1L	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2687977	NM_005337.5(NCKAP1L):c.1338+46C>T	NCKAP1L	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688139	NM_005337.5(NCKAP1L):c.2375+36T>C	NCKAP1L	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688179	NM_005337.5(NCKAP1L):c.2375+61G>A	NCKAP1L	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688191	NM_005337.5(NCKAP1L):c.3183+77A>G	NCKAP1L	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688203	NM_005337.5(NCKAP1L):c.3273+31T>C	NCKAP1L	Single nucleotide variant (intron variant)	not specified	GBenign

ClinVar