"Baylor Genetics"[submitter] AND "SLC6A8"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21448	NM_005629.4(SLC6A8):c.318CTT[1] (p.Phe107del)	SLC6A8 (F107del)	Microsatellite (inframe_deletion +1 more)	Creatine transporter deficiency	GPathogenic FDA Recognized database
Select item 561109	NM_005629.4(SLC6A8):c.340C>A (p.Gln114Lys)	SLC6A8 (Q114K)	Single nucleotide variant (missense variant +1 more)	Creatine transporter deficiency	GUncertain significance FDA Recognized database
Select item 1028923	NM_005629.4(SLC6A8):c.706A>T (p.Thr236Ser)	SLC6A8 (T121S +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significance
Select item 2678970	NM_005629.4(SLC6A8):c.1612_1613dup (p.Asn538fs)	SLC6A8 (N423fs +2 more)	Duplication (frameshift variant)	Creatine transporter deficiency	GLikely pathogenic
Select item 3240516	NM_005629.4(SLC6A8):c.1704_1711dup (p.Cys571fs)	SLC6A8 (C456fs +2 more)	Duplication (frameshift variant)	Creatine transporter deficiency	GLikely pathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic

ClinVar