"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299942	NM_004727.3(SLC24A1):c.120C>T (p.His40=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1284773	NM_004727.3(SLC24A1):c.1242C>G (p.Ala414=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 316801	NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)	SLC24A1 (A728V +2 more)	Single nucleotide variant (missense variant)	SLC24A1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 198520	NM_004727.3(SLC24A1):c.2445C>T (p.His815=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 284166	NM_004727.3(SLC24A1):c.2594A>G (p.Glu865Gly)	SLC24A1 (E865G +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 198521	NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=)	SLC24A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

ClinVar