Related gene-specific medical variations for Gene (Select 340024) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068219	NM_001003841.3(SLC6A19):c.1539G>T (p.Arg513Ser)	SLC6A19 (R513S)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect	GUncertain significance
Select item 1679576	NM_001003841.3(SLC6A19):c.1019A>T (p.Asn340Ile)	SLC6A19 (N340I)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect	GUncertain significance
Select item 591998	NM_001003841.3(SLC6A19):c.284_300dup (p.Leu101fs)	SLC6A19 (L101fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 591870	NM_001003841.3(SLC6A19):c.1705G>T (p.Glu569Ter)	SLC6A19 (E569*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 591247	NM_001003841.3(SLC6A19):c.968C>T (p.Ser323Phe)	SLC6A19 (S323F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 523051	NM_001003841.3(SLC6A19):c.1463A>G (p.Tyr488Cys)	SLC6A19 (Y488C)	Single nucleotide variant (missense variant)	Neutral 1 amino acid transport defect	GUncertain significance
Select item 208186	NM_001003841.3(SLC6A19):c.146G>A (p.Cys49Tyr)	SLC6A19 (C49Y)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 100818	NM_001003841.3(SLC6A19):c.1540T>G (p.Phe514Val)	SLC6A19 (F514V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar