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

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 735706	NM_001003841.3(SLC6A19):c.156C>T (p.Leu52=)	SLC6A19	Single nucleotide variant (synonymous variant)	Hyperglycinuria +3 more	GBenign
Select item 2019	NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)	SLC6A19 (D173N)	Single nucleotide variant (missense variant)	Iminoglycinuria +5 more	GConflicting classifications of pathogenicity
Select item 713077	NM_001003841.3(SLC6A19):c.555G>A (p.Thr185=)	SLC6A19	Single nucleotide variant (synonymous variant)	Hyperglycinuria +3 more	GBenign/Likely benign
Select item 1299270	NM_001003841.3(SLC6A19):c.727A>G (p.Thr243Ala)	SLC6A19 (T243A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 715500	NM_001003841.3(SLC6A19):c.775-5C>T	SLC6A19	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 708817	NM_001003841.3(SLC6A19):c.984C>T (p.Arg328=)	SLC6A19	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 449553	NM_001003841.3(SLC6A19):c.1173+2T>G	SLC6A19	Single nucleotide variant (splice donor variant)	SLC6A19-related disorder +4 more	GPathogenic

ClinVar