C1845862[trait identifier] AND "GenomeConnect-Association for Creatine - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130355	NM_005629.4(SLC6A8):c.-5A>G	SLC6A8	Single nucleotide variant (5 prime UTR variant)	SLC6A8-related condition +4 more	GBenign
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 810773	NM_005629.4(SLC6A8):c.829_843dup (p.Val277_Leu281dup)	SLC6A8	Duplication (inframe_insertion)	Creatine transporter deficiency	Gnot provided
Select item 818161	NM_005629.4(SLC6A8):c.964G>T (p.Gly322Trp)	SLC6A8 (G207W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 265402	NM_005629.4(SLC6A8):c.1000AAC[2] (p.Asn336del)	SLC6A8 (N336del +1 more)	Microsatellite (inframe_deletion)	Creatine transporter deficiency	GPathogenic FDA Recognized database
Select item 520792	NM_005629.4(SLC6A8):c.1016+2T>C	SLC6A8	Single nucleotide variant (splice donor variant)	Creatine transporter deficiency	GPathogenic FDA Recognized database
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 11698	NM_005629.4(SLC6A8):c.1216TTC[2] (p.Phe408del)	SLC6A8 (F408del +2 more)	Microsatellite (inframe_deletion)	Creatine transporter deficiency	GPathogenic FDA Recognized database
Select item 818206	Single allele	SLC6A8	Deletion	Creatine transporter deficiency	Gnot provided