ClinVar for MedGen (Select 337451) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25802271.	NM_005629.4(SLC6A8):c.407C>G (p.Ala136Gly) GRCh37: ChrX:152956771 GRCh38: ChrX:153691316	SLC6A8	A136G, A21G	Creatine transporter deficiency	Uncertain significance (Apr 11, 2023)	criteria provided, single submitter
Select item 25726412.	NM_005629.4(SLC6A8):c.527_529del (p.Trp176_Asn177delinsTyr) GRCh37: ChrX:152956891-152956893 GRCh38: ChrX:153691436-153691438	SLC6A8		Creatine transporter deficiency	Likely pathogenic (May 17, 2023)	criteria provided, single submitter
Select item 25726233.	NM_005629.4(SLC6A8):c.229C>A (p.Arg77Ser) GRCh37: ChrX:152954258 GRCh38: ChrX:153688803	SLC6A8	R77S	Creatine transporter deficiency	Likely pathogenic (Dec 21, 2022)	criteria provided, single submitter
Select item 25706414.	NM_005629.4(SLC6A8):c.1141+37G>A GRCh37: ChrX:152959078 GRCh38: ChrX:153693623	SLC6A8		Creatine transporter deficiency	Benign (Jun 8, 2023)	reviewed by expert panel FDA Recognized Database
Select item 25063205.	NM_005629.4(SLC6A8):c.1539C>G (p.Tyr513Ter) GRCh37: ChrX:152960031 GRCh38: ChrX:153694576	SLC6A8	Y398, Y503, Y513*	Creatine transporter deficiency	Pathogenic (May 10, 2023)	criteria provided, single submitter
Select item 25052806.	NM_005629.4(SLC6A8):c.1317_1321del (p.Arg440fs) GRCh37: ChrX:152959645-152959649 GRCh38: ChrX:153694190-153694194	SLC6A8	R325fs, R430fs, R440fs	Creatine transporter deficiency	Likely pathogenic (Feb 13, 2023)	criteria provided, single submitter
Select item 25009277.	NM_005629.4(SLC6A8):c.1152_1156dup (p.Phe386fs) GRCh37: ChrX:152959364-152959365 GRCh38: ChrX:153693909-153693910	SLC6A8	F271fs, F376fs, F386fs	Creatine transporter deficiency	Likely pathogenic (May 2, 2023)	criteria provided, single submitter
Select item 25000878.	NM_005629.4(SLC6A8):c.1478T>C (p.Val493Ala) GRCh37: ChrX:152959884 GRCh38: ChrX:153694429	SLC6A8	V378A, V483A, V493A	Creatine transporter deficiency	Uncertain significance (Dec 12, 2022)	criteria provided, single submitter
Select item 24983319.	NM_005629.4(SLC6A8):c.230G>A (p.Arg77His) GRCh37: ChrX:152954259 GRCh38: ChrX:153688804	SLC6A8	R77H	Creatine transporter deficiency	Uncertain significance (Mar 20, 2023)	criteria provided, single submitter
Select item 244644910.	NM_005629.4(SLC6A8):c.912G>A (p.Gln304=) GRCh37: ChrX:152958630 GRCh38: ChrX:153693175	SLC6A8		Creatine transporter deficiency	Likely pathogenic (Jan 12, 2023)	reviewed by expert panel FDA Recognized Database
Select item 244644811.	NM_005629.4(SLC6A8):c.859del (p.Asp287fs) GRCh37: ChrX:152958576 GRCh38: ChrX:153693121	SLC6A8	D172fs, D287fs	Creatine transporter deficiency	Pathogenic (Mar 9, 2023)	reviewed by expert panel FDA Recognized Database
Select item 244644712.	NM_005629.4(SLC6A8):c.856del (p.Leu286fs) GRCh37: ChrX:152958572 GRCh38: ChrX:153693117	SLC6A8	L171fs, L286fs	Creatine transporter deficiency	Pathogenic (Mar 9, 2023)	reviewed by expert panel FDA Recognized Database
Select item 244644613.	NM_005629.4(SLC6A8):c.635_636del (p.Glu212fs) GRCh37: ChrX:152956998-152956999 GRCh38: ChrX:153691543-153691544	SLC6A8	E212fs, E97fs	Creatine transporter deficiency	Pathogenic (Mar 9, 2023)	reviewed by expert panel FDA Recognized Database
Select item 244644514.	NM_005629.4(SLC6A8):c.634G>T (p.Glu212Ter) GRCh37: ChrX:152956998 GRCh38: ChrX:153691543	SLC6A8	E212, E97	Creatine transporter deficiency	Pathogenic (Mar 9, 2023)	reviewed by expert panel FDA Recognized Database
Select item 242538915.	NC_000023.10:g.(?_152959991)_(152960815_?)del GRCh37: ChrX:152959991-152960815	SLC6A8		Creatine transporter deficiency	Pathogenic (Jul 18, 2022)	criteria provided, single submitter
Select item 242538816.	NC_000023.10:g.(?_152770090)_(152954311_?)dup GRCh37: ChrX:152770090-152954311	BGN, SLC6A8, PNCK, CCNQ, ATP2B3, DUSP9		Creatine transporter deficiency	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 242215717.	NC_000023.10:g.(?_152014869)_(155171615_?)del GRCh37: ChrX:152014869-155171615	FAM3A, H2AB3, OPN1MW2, HCFC1, CTAG2, SLC10A3, FLNA, ZNF275, PLXNA3, BRCC3, CMC4, HAUS7, UBL4A, TMEM187, FAM50A, CCNQ, BGN, IRAK1, CLIC2, F8, TMLHE, TAFAZZIN, ZFP92, NAA10, MECP2, SSR4, RPL10, FUNDC2, PNMA6A, SLC6A8, LOC100509091, G6PD, ABCD1, NSDHL, F8A2, LAGE3, PLXNB3, PNCK, PNMA5, CTAG1A, GAB3, PNMA6E, TKTL1, PNMA3, TEX28, IDH3G, OPN1LW, RENBP, RAB39B, MAGEA1, SMIM9, DNASE1L1, EMD, GDI1, VBP1, IKBKG, TREX2, AVPR2, SRPK3, BCAP31, H2AB1, ZNF185, H2AB2, ATP2B3, F8A1, OPN1MW, CTAG1B, L1CAM, ARHGAP4, DKC1, MPP1, F8A3, DUSP9, MTCP1, ATP6AP1, PDZD4		Heterotopia, periventricular, X-linked dominant, Melnick-Needles syndrome, Oto-palato-digital syndrome, type II, Frontometaphyseal dysplasia, X-linked Emery-Dreifuss muscular dystrophy, Adrenoleukodystrophy, Spastic paraplegia, Creatine transporter deficiency, 3-Methylglutaconic aciduria type 2	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 241741318.	NM_005629.4(SLC6A8):c.838G>T (p.Val280Leu) GRCh37: ChrX:152958556 GRCh38: ChrX:153693101	SLC6A8	V165L, V280L	Creatine transporter deficiency	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 220038919.	NM_005629.4(SLC6A8):c.1392+12G>A GRCh37: ChrX:152959734 GRCh38: ChrX:153694279	SLC6A8		Creatine transporter deficiency	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 219916220.	NM_005629.4(SLC6A8):c.1269G>A (p.Glu423=) GRCh37: ChrX:152959599 GRCh38: ChrX:153694144	SLC6A8		Creatine transporter deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 219687721.	NM_005629.4(SLC6A8):c.262+12C>T GRCh37: ChrX:152954303 GRCh38: ChrX:153688848	SLC6A8		Creatine transporter deficiency	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 218828822.	NM_005629.4(SLC6A8):c.1419T>C (p.Phe473=) GRCh37: ChrX:152959825 GRCh38: ChrX:153694370	SLC6A8		Creatine transporter deficiency	Benign (Aug 1, 2022)	criteria provided, single submitter
Select item 218828723.	NM_005629.4(SLC6A8):c.1393-3del GRCh37: ChrX:152959792 GRCh38: ChrX:153694337	SLC6A8		Creatine transporter deficiency	Benign (Sep 13, 2022)	criteria provided, single submitter
Select item 218828624.	NM_005629.4(SLC6A8):c.513A>G (p.Thr171=) GRCh37: ChrX:152956877 GRCh38: ChrX:153691422	SLC6A8		Creatine transporter deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 218594325.	NM_005629.4(SLC6A8):c.1738C>G (p.Leu580Val) GRCh37: ChrX:152960315 GRCh38: ChrX:153694860	SLC6A8	L465V, L570V, L580V	Creatine transporter deficiency	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 218239826.	NM_005629.4(SLC6A8):c.715C>T (p.Leu239=) GRCh37: ChrX:152957500 GRCh38: ChrX:153692045	SLC6A8		Creatine transporter deficiency	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 218170627.	NM_005629.4(SLC6A8):c.617G>A (p.Arg206His) GRCh37: ChrX:152956981 GRCh38: ChrX:153691526	SLC6A8	R91H, R206H	Creatine transporter deficiency	Conflicting interpretations of pathogenicity (Apr 23, 2022)	criteria provided, conflicting interpretations
Select item 217333328.	NM_005629.4(SLC6A8):c.1857G>C (p.Leu619=) GRCh37: ChrX:152960618 GRCh38: ChrX:153695163	SLC6A8		Creatine transporter deficiency	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 217061629.	NM_005629.4(SLC6A8):c.1597-11C>G GRCh37: ChrX:152960163 GRCh38: ChrX:153694708	SLC6A8		Creatine transporter deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 217058730.	NM_005629.4(SLC6A8):c.109C>T (p.Pro37Ser) GRCh37: ChrX:152954138 GRCh38: ChrX:153688683	SLC6A8	P37S	Creatine transporter deficiency	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 216953231.	NM_005629.4(SLC6A8):c.913-20G>A GRCh37: ChrX:152958698 GRCh38: ChrX:153693243	SLC6A8		Creatine transporter deficiency	Likely benign (Dec 19, 2021)	criteria provided, single submitter
Select item 216607732.	NM_005629.4(SLC6A8):c.76G>C (p.Gly26Arg) GRCh37: ChrX:152954105 GRCh38: ChrX:153688650	SLC6A8	G26R	Creatine transporter deficiency	Benign (Dec 21, 2021)	criteria provided, single submitter
Select item 216428533.	NM_005629.4(SLC6A8):c.1767+15C>A GRCh37: ChrX:152960359 GRCh38: ChrX:153694904	SLC6A8		Creatine transporter deficiency	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 216274334.	NM_005629.4(SLC6A8):c.1881_1882insT (p.Val628fs) GRCh37: ChrX:152960642-152960643 GRCh38: ChrX:153695187-153695188	SLC6A8	V628fs, V618fs, V513fs	Creatine transporter deficiency	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 216274135.	NM_005629.4(SLC6A8):c.334C>T (p.Leu112=) GRCh37: ChrX:152955901 GRCh38: ChrX:153690446	SLC6A8		Creatine transporter deficiency	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 216165936.	NM_005629.4(SLC6A8):c.1285C>T (p.Leu429Phe) GRCh37: ChrX:152959615 GRCh38: ChrX:153694160	SLC6A8	L429F, L419F, L314F	Creatine transporter deficiency	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 216067137.	NM_005629.4(SLC6A8):c.1548C>T (p.Cys516=) GRCh37: ChrX:152960040 GRCh38: ChrX:153694585	SLC6A8		Creatine transporter deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 215742538.	NM_005629.4(SLC6A8):c.1392+19C>T GRCh37: ChrX:152959741 GRCh38: ChrX:153694286	SLC6A8		Creatine transporter deficiency	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 215633739.	NM_005629.4(SLC6A8):c.420C>G (p.Ile140Met) GRCh37: ChrX:152956784 GRCh38: ChrX:153691329	SLC6A8	I140M, I25M	Creatine transporter deficiency	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 214863340.	NM_005629.4(SLC6A8):c.1393-11C>G GRCh37: ChrX:152959788 GRCh38: ChrX:153694333	SLC6A8		Creatine transporter deficiency	Likely benign (Jan 2, 2022)	criteria provided, single submitter
Select item 214697141.	NM_005629.4(SLC6A8):c.263-20C>T GRCh37: ChrX:152955810 GRCh38: ChrX:153690355	SLC6A8		Creatine transporter deficiency	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 214425442.	NM_005629.4(SLC6A8):c.150G>T (p.Pro50=) GRCh37: ChrX:152954179 GRCh38: ChrX:153688724	SLC6A8		Creatine transporter deficiency	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 213938343.	NM_005629.4(SLC6A8):c.1254+12G>A GRCh37: ChrX:152959484 GRCh38: ChrX:153694029	SLC6A8		Creatine transporter deficiency	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 213875744.	NM_005629.4(SLC6A8):c.11A>G (p.Lys4Arg) GRCh37: ChrX:152954040 GRCh38: ChrX:153688585	SLC6A8	K4R	Creatine transporter deficiency	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 212623545.	NM_005629.4(SLC6A8):c.1597-6C>G GRCh37: ChrX:152960168 GRCh38: ChrX:153694713	SLC6A8		Creatine transporter deficiency	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 211727846.	NM_005629.4(SLC6A8):c.1695C>T (p.Ala565=) GRCh37: ChrX:152960272 GRCh38: ChrX:153694817	SLC6A8		Creatine transporter deficiency	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 210755247.	NM_005629.4(SLC6A8):c.276T>A (p.Ile92=) GRCh37: ChrX:152955843 GRCh38: ChrX:153690388	SLC6A8		Creatine transporter deficiency	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 210232448.	NM_005629.4(SLC6A8):c.728G>A (p.Trp243Ter) GRCh37: ChrX:152957513 GRCh38: ChrX:153692058	SLC6A8	W128, W243	Creatine transporter deficiency	Pathogenic (Feb 23, 2022)	criteria provided, single submitter
Select item 210148949.	NM_005629.4(SLC6A8):c.61C>T (p.Pro21Ser) GRCh37: ChrX:152954090 GRCh38: ChrX:153688635	SLC6A8	P21S	Creatine transporter deficiency	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 209708450.	NM_005629.4(SLC6A8):c.1596+14dup GRCh37: ChrX:152960097-152960098 GRCh38: ChrX:153694642-153694643	SLC6A8		Creatine transporter deficiency	Benign (Oct 28, 2022)	criteria provided, single submitter
Select item 209503751.	NM_005629.4(SLC6A8):c.967_970dup (p.Leu324fs) GRCh37: ChrX:152958771-152958772 GRCh38: ChrX:153693316-153693317	SLC6A8	L324fs, L209fs	Creatine transporter deficiency	Pathogenic (Feb 8, 2022)	criteria provided, single submitter
Select item 209400852.	NM_005629.4(SLC6A8):c.1017-11C>T GRCh37: ChrX:152958906 GRCh38: ChrX:153693451	SLC6A8		Creatine transporter deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 209126753.	NM_005629.4(SLC6A8):c.963G>C (p.Leu321=) GRCh37: ChrX:152958768 GRCh38: ChrX:153693313	SLC6A8		Creatine transporter deficiency	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 209126454.	NM_005629.4(SLC6A8):c.1755C>T (p.Gly585=) GRCh37: ChrX:152960332 GRCh38: ChrX:153694877	SLC6A8		Creatine transporter deficiency	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 209101255.	NM_005629.4(SLC6A8):c.1182G>A (p.Thr394=) GRCh37: ChrX:152959400 GRCh38: ChrX:153693945	SLC6A8		Creatine transporter deficiency	Likely benign (May 22, 2022)	criteria provided, single submitter
Select item 208864956.	NM_005629.4(SLC6A8):c.1330G>A (p.Glu444Lys) GRCh37: ChrX:152959660 GRCh38: ChrX:153694205	SLC6A8	E444K, E329K, E434K	Creatine transporter deficiency	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208854157.	NM_005629.4(SLC6A8):c.196G>A (p.Val66Met) GRCh37: ChrX:152954225 GRCh38: ChrX:153688770	SLC6A8	V66M	Creatine transporter deficiency	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208599558.	NM_005629.4(SLC6A8):c.1639T>C (p.Tyr547His) GRCh37: ChrX:152960216 GRCh38: ChrX:153694761	SLC6A8	Y432H, Y537H, Y547H	Creatine transporter deficiency	Uncertain significance (Jan 19, 2022)	criteria provided, single submitter
Select item 208590259.	NM_005629.4(SLC6A8):c.825G>A (p.Leu275=) GRCh37: ChrX:152958543 GRCh38: ChrX:153693088	SLC6A8		Creatine transporter deficiency	Likely benign (Jan 28, 2022)	criteria provided, single submitter
Select item 208370560.	NM_005629.4(SLC6A8):c.913-13G>A GRCh37: ChrX:152958705 GRCh38: ChrX:153693250	SLC6A8		Creatine transporter deficiency	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 207718361.	NM_005629.4(SLC6A8):c.1495+4G>A GRCh37: ChrX:152959905 GRCh38: ChrX:153694450	SLC6A8		Creatine transporter deficiency	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 206856562.	NM_005629.4(SLC6A8):c.1596+11G>C GRCh37: ChrX:152960099 GRCh38: ChrX:153694644	SLC6A8		Creatine transporter deficiency	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 206689463.	NM_005629.4(SLC6A8):c.1732G>A (p.Gly578Ser) GRCh37: ChrX:152960309 GRCh38: ChrX:153694854	SLC6A8	G463S, G578S, G568S	Creatine transporter deficiency	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 206495564.	NM_005629.4(SLC6A8):c.6G>A (p.Ala2=) GRCh37: ChrX:152954035 GRCh38: ChrX:153688580	SLC6A8		Creatine transporter deficiency	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 206020465.	NM_005629.4(SLC6A8):c.1768-11_1768-9del GRCh37: ChrX:152960513-152960515 GRCh38: ChrX:153695058-153695060	SLC6A8		Creatine transporter deficiency	Likely benign (Jul 20, 2022)	criteria provided, single submitter
Select item 205249666.	NM_005629.4(SLC6A8):c.192G>T (p.Ser64=) GRCh37: ChrX:152954221 GRCh38: ChrX:153688766	SLC6A8		Creatine transporter deficiency	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 205166667.	NM_005629.4(SLC6A8):c.1813G>A (p.Glu605Lys) GRCh37: ChrX:152960574 GRCh38: ChrX:153695119	SLC6A8	E595K, E605K, E490K	Creatine transporter deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 204921668.	NM_005629.4(SLC6A8):c.1251C>A (p.Ser417Arg) GRCh37: ChrX:152959469 GRCh38: ChrX:153694014	SLC6A8	S407R, S302R, S417R	Creatine transporter deficiency	Uncertain significance (Dec 19, 2021)	criteria provided, single submitter
Select item 204796369.	NM_005629.4(SLC6A8):c.366T>C (p.Asn122=) GRCh37: ChrX:152955933 GRCh38: ChrX:153690478	SLC6A8		Creatine transporter deficiency	Likely benign (May 18, 2022)	criteria provided, single submitter
Select item 204773470.	NM_005629.4(SLC6A8):c.1017-4del GRCh37: ChrX:152958913 GRCh38: ChrX:153693458	SLC6A8		Creatine transporter deficiency	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 204620071.	NM_005629.4(SLC6A8):c.778-11T>C GRCh37: ChrX:152958485 GRCh38: ChrX:153693030	SLC6A8		Creatine transporter deficiency	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 203657572.	NM_005629.4(SLC6A8):c.840G>T (p.Val280=) GRCh37: ChrX:152958558 GRCh38: ChrX:153693103	SLC6A8		Creatine transporter deficiency	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 203579073.	NM_005629.4(SLC6A8):c.395-13T>C GRCh37: ChrX:152956746 GRCh38: ChrX:153691291	SLC6A8		Creatine transporter deficiency	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 203496774.	NM_005629.4(SLC6A8):c.1086C>T (p.Ile362=) GRCh37: ChrX:152958986 GRCh38: ChrX:153693531	SLC6A8		Creatine transporter deficiency	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 203260275.	NM_005629.4(SLC6A8):c.1476G>A (p.Val492=) GRCh37: ChrX:152959882 GRCh38: ChrX:153694427	SLC6A8		Creatine transporter deficiency	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 203121476.	NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs) GRCh37: ChrX:152959034-152959035 GRCh38: ChrX:153693579-153693580	SLC6A8	E264fs, E369fs, E379fs	Creatine transporter deficiency, Inborn genetic diseases	Pathogenic/Likely pathogenic (Sep 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 202905577.	NM_005629.4(SLC6A8):c.1146G>C (p.Pro382=) GRCh37: ChrX:152959364 GRCh38: ChrX:153693909	SLC6A8		Creatine transporter deficiency	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 202788378.	NM_005629.4(SLC6A8):c.655T>C (p.Leu219=) GRCh37: ChrX:152957440 GRCh38: ChrX:153691985	SLC6A8		Creatine transporter deficiency	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202774779.	NM_005629.4(SLC6A8):c.645-6C>A GRCh37: ChrX:152957424 GRCh38: ChrX:153691969	SLC6A8		Creatine transporter deficiency	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 202641280.	NM_005629.4(SLC6A8):c.258C>T (p.Gly86=) GRCh37: ChrX:152954287 GRCh38: ChrX:153688832	SLC6A8		Creatine transporter deficiency	Likely benign (Sep 5, 2022)	criteria provided, single submitter
Select item 202560081.	NM_005629.4(SLC6A8):c.1551C>G (p.Pro517=) GRCh37: ChrX:152960043 GRCh38: ChrX:153694588	SLC6A8		Creatine transporter deficiency	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 202515082.	NM_005629.4(SLC6A8):c.1467G>C (p.Trp489Cys) GRCh37: ChrX:152959873 GRCh38: ChrX:153694418	SLC6A8	W479C, W374C, W489C	Creatine transporter deficiency	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202225283.	NM_005629.4(SLC6A8):c.702G>A (p.Glu234=) GRCh37: ChrX:152957487 GRCh38: ChrX:153692032	SLC6A8		Creatine transporter deficiency	Likely benign (Aug 6, 2022)	criteria provided, single submitter
Select item 202190584.	NM_005629.4(SLC6A8):c.1142-5C>G GRCh37: ChrX:152959355 GRCh38: ChrX:153693900	SLC6A8		Creatine transporter deficiency	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 201713185.	NM_005629.4(SLC6A8):c.1393-19A>G GRCh37: ChrX:152959780 GRCh38: ChrX:153694325	SLC6A8		Creatine transporter deficiency	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 201711686.	NM_005629.4(SLC6A8):c.262+11C>T GRCh37: ChrX:152954302 GRCh38: ChrX:153688847	SLC6A8		Creatine transporter deficiency	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 201592587.	NM_005629.4(SLC6A8):c.108C>A (p.Gly36=) GRCh37: ChrX:152954137 GRCh38: ChrX:153688682	SLC6A8		Creatine transporter deficiency	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 200570288.	NM_005629.4(SLC6A8):c.18C>T (p.Ala6=) GRCh37: ChrX:152954047 GRCh38: ChrX:153688592	SLC6A8		Creatine transporter deficiency	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200569889.	NM_005629.4(SLC6A8):c.564A>G (p.Glu188=) GRCh37: ChrX:152956928 GRCh38: ChrX:153691473	SLC6A8		Creatine transporter deficiency	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200546890.	NM_005629.4(SLC6A8):c.1768-14C>T GRCh37: ChrX:152960515 GRCh38: ChrX:153695060	SLC6A8		Creatine transporter deficiency	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 200502091.	NM_005629.4(SLC6A8):c.263-3_271del GRCh37: ChrX:152955825-152955836 GRCh38: ChrX:153690370-153690381	SLC6A8		Creatine transporter deficiency	Likely pathogenic (Jun 12, 2022)	criteria provided, single submitter
Select item 200149592.	NM_005629.4(SLC6A8):c.238T>G (p.Tyr80Asp) GRCh37: ChrX:152954267 GRCh38: ChrX:153688812	SLC6A8	Y80D	Creatine transporter deficiency	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 200027093.	NM_005629.4(SLC6A8):c.1299C>T (p.Leu433=) GRCh37: ChrX:152959629 GRCh38: ChrX:153694174	SLC6A8		Creatine transporter deficiency	Likely benign (May 29, 2022)	criteria provided, single submitter
Select item 199865794.	NM_005629.4(SLC6A8):c.464G>T (p.Gly155Val) GRCh37: ChrX:152956828 GRCh38: ChrX:153691373	SLC6A8	G40V, G155V	Creatine transporter deficiency	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 199861795.	NM_005629.4(SLC6A8):c.1902C>G (p.Val634=) GRCh37: ChrX:152960663 GRCh38: ChrX:153695208	SLC6A8		Creatine transporter deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 199313496.	NM_005629.4(SLC6A8):c.1392+14_1392+38del GRCh37: ChrX:152959731-152959755 GRCh38: ChrX:153694276-153694300	SLC6A8		Creatine transporter deficiency	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 198924597.	NM_005629.4(SLC6A8):c.778-10G>A GRCh37: ChrX:152958486 GRCh38: ChrX:153693031	SLC6A8		Creatine transporter deficiency	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 198647298.	NM_005629.4(SLC6A8):c.612T>C (p.Ala204=) GRCh37: ChrX:152956976 GRCh38: ChrX:153691521	SLC6A8		Creatine transporter deficiency	Likely benign (Apr 14, 2022)	criteria provided, single submitter
Select item 197875699.	NM_005629.4(SLC6A8):c.1248C>T (p.Asp416=) GRCh37: ChrX:152959466 GRCh38: ChrX:153694011	SLC6A8		Creatine transporter deficiency	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 1973774100.	NM_005629.4(SLC6A8):c.1596+7G>A GRCh37: ChrX:152960095 GRCh38: ChrX:153694640	SLC6A8		Creatine transporter deficiency	Likely benign (Mar 27, 2022)	criteria provided, single submitter

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