C1845862[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982780	NM_005629.4(SLC6A8):c.199G>C (p.Gly67Arg)	SLC6A8 (G67R)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GLikely pathogenic
Select item 1285463	NM_005629.4(SLC6A8):c.406G>A (p.Ala136Thr)	SLC6A8 (A136T +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significance
Select item 984715	NM_005629.4(SLC6A8):c.644A>G (p.Glu215Gly)	SLC6A8 (E100G +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significance
Select item 533700	NM_005629.4(SLC6A8):c.1145C>T (p.Pro382Leu)	SLC6A8 (P382L +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GLikely pathogenic FDA Recognized database
Select item 1285397	NM_005629.4(SLC6A8):c.1235T>C (p.Leu412Pro)	SLC6A8 (L297P +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significance
Select item 975971	NM_005629.4(SLC6A8):c.1626C>A (p.Tyr542Ter)	SLC6A8 (Y427* +2 more)	Single nucleotide variant (nonsense)	Creatine transporter deficiency	GPathogenic
Select item 2664968	NM_005629.4(SLC6A8):c.1659C>A (p.Tyr553Ter)	SLC6A8 (Y438* +2 more)	Single nucleotide variant (nonsense)	Creatine transporter deficiency	GPathogenic

ClinVar