C0018609[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2430279	NM_001003841.3(SLC6A19):c.170G>A (p.Arg57His)	SLC6A19 (R57H)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect	GLikely pathogenic
Select item 2020	NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter)	SLC6A19 (R240*)	Single nucleotide variant (nonsense)	Hyperglycinuria +2 more	GPathogenic
Select item 623442	NM_001003841.3(SLC6A19):c.1701+1G>A	SLC6A19	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity

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