ClinVar for MedGen (Select 337451) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3598159	NM_005629.4(SLC6A8):c.420delinsGGTCTACGCCTCCATG (p.Ile140delinsMetValTyrAlaSerMet)	SLC6A8	Indel (inframe_indel)	Creatine transporter deficiency	GPathogenic
Select item 3385009	NM_005629.4(SLC6A8):c.1468dup (p.Glu490fs)	SLC6A8 (E375fs +2 more)	Duplication (frameshift variant)	Creatine transporter deficiency	GPathogenic
Select item 3384150	R278C	SLC6A8	Single nucleotide variant	Creatine transporter deficiency	GPathogenic
Select item 3382036	NM_005629.4(SLC6A8):c.1072_1080del (p.Val358_Phe360del)	SLC6A8	Deletion (inframe_deletion)	Creatine transporter deficiency	GUncertain significance
Select item 3381221	NM_005629.4(SLC6A8):c.643G>T (p.Glu215Ter)	SLC6A8 (E100* +1 more)	Single nucleotide variant (nonsense)	Creatine transporter deficiency	GLikely pathogenic
Select item 3377343	NM_005629.4(SLC6A8):c.1142-15_1165del	SLC6A8	Deletion (splice acceptor variant)	Creatine transporter deficiency	GPathogenic
Select item 3376199	NM_005629.4(SLC6A8):c.644+5G>C	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely pathogenic
Select item 3366645	NC_000023.10:g.(152958631_152958717)_(152959042_152959359)del	SLC6A8	Deletion	Creatine transporter deficiency	GPathogenic
Select item 3338372	NM_005629.4(SLC6A8):c.877dup (p.Leu293fs)	SLC6A8 (L178fs +1 more)	Duplication (frameshift variant)	Creatine transporter deficiency	GLikely pathogenic
Select item 3256155	NM_005629.4(SLC6A8):c.1601TCTTCA[1] (p.534IF[1])	SLC6A8	Microsatellite (inframe_deletion)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3256154	NM_005629.4(SLC6A8):c.541T>C (p.Cys181Arg)	SLC6A8 (C181R +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GLikely pathogenicFDA Recognized database
Select item 3256153	NM_005629.4(SLC6A8):c.1181C>A (p.Thr394Lys)	SLC6A8 (T279K +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3256152	NM_005629.4(SLC6A8):c.462G>A (p.Trp154Ter)	SLC6A8 (W154* +1 more)	Single nucleotide variant (nonsense)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3256151	NM_005629.4(SLC6A8):c.1016+21_1017-42del	SLC6A8	Deletion (intron variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3256150	NM_005629.4(SLC6A8):c.1142-2A>G	SLC6A8	Single nucleotide variant (splice acceptor variant)	Creatine transporter deficiency	GLikely pathogenicFDA Recognized database
Select item 3256149	NM_005629.4(SLC6A8):c.1392+24_1393-30del	SLC6A8	Deletion (intron variant)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3256148	NM_005629.4(SLC6A8):c.757G>C (p.Gly253Arg)	SLC6A8 (G138R +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GLikely pathogenicFDA Recognized database
Select item 3256147	NM_005629.4(SLC6A8):c.942C>G (p.Phe314Leu)	SLC6A8 (F199L +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3256146	NM_005629.4(SLC6A8):c.880A>C (p.Lys294Gln)	SLC6A8 (K179Q +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3256145	NM_005629.4(SLC6A8):c.808G>A (p.Val270Met)	SLC6A8 (V155M +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3255063	NM_005629.4(SLC6A8):c.257G>A (p.Gly86Asp)	SLC6A8 (G86D)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GLikely pathogenic
Select item 3254627	NM_005629.4(SLC6A8):c.59_60delinsA (p.Gly20fs)	SLC6A8 (G20fs)	Indel (frameshift variant)	Creatine transporter deficiency	GPathogenic
Select item 3244882	NC_000023.10:g.(?_152959003)_(152959194_?)del	SLC6A8	Deletion	Creatine transporter deficiency	GLikely pathogenic
Select item 3244871	NC_000023.10:g.(?_152954030)_(153009189_?)dup	ABCD1, BCAP31 +1 more	Duplication	Creatine transporter deficiency	GUncertain significance
Select item 3244860	NC_000023.10:g.(?_152956740)_(152959209_?)del	SLC6A8	Deletion	Creatine transporter deficiency	GPathogenic
Select item 3244849	NC_000023.10:g.(?_152959968)_(152960669_?)del	SLC6A8	Deletion	Creatine transporter deficiency	GPathogenic
Select item 3243728	NC_000023.10:g.(?_152954030)_(154005142_?)del	ABCD1, ARHGAP4 +40 more	Deletion	Creatine transporter deficiency +6 more	GPathogenic
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 3066453	NM_005629.4(SLC6A8):c.1417_1420del (p.Phe473fs)	SLC6A8 (F358fs +2 more)	Deletion (frameshift variant)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066452	NM_005629.4(SLC6A8):c.1372_1375del (p.Asp458fs)	SLC6A8 (D343fs +2 more)	Deletion (frameshift variant)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066451	NM_005629.4(SLC6A8):c.1318dup (p.Arg440fs)	SLC6A8 (R325fs +2 more)	Duplication (frameshift variant)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066450	NM_005629.4(SLC6A8):c.1299_1309del (p.Pro434fs)	SLC6A8 (P319fs +2 more)	Deletion (frameshift variant)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066449	NM_005629.4(SLC6A8):c.676G>T (p.Glu226Ter)	SLC6A8 (E111* +1 more)	Single nucleotide variant (nonsense)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066448	NM_005629.4(SLC6A8):c.1A>G (p.Met1Val)	SLC6A8 (M1V)	Single nucleotide variant (missense variant +1 more)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066447	NM_005629.4(SLC6A8):c.644+5G>A	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066446	NC_000023.11:g.153693904GGGCC[3]	SLC6A8	Microsatellite	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066445	NM_005629.4(SLC6A8):c.262+1G>T	SLC6A8	Single nucleotide variant (splice donor variant)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066444	NM_005629.4(SLC6A8):c.778-2A>G	SLC6A8	Single nucleotide variant (splice acceptor variant)	Creatine transporter deficiency	GLikely pathogenicFDA Recognized database
Select item 3066443	NM_005629.4(SLC6A8):c.1324del (p.Gln442fs)	SLC6A8 (Q327fs +2 more)	Deletion (frameshift variant)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066442	NM_005629.4(SLC6A8):c.1271G>A (p.Gly424Asp)	SLC6A8 (G309D +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GLikely pathogenicFDA Recognized database
Select item 3066441	NM_005629.4(SLC6A8):c.1255-35G>A	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066440	NM_005629.4(SLC6A8):c.1629G>A (p.Glu543=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066439	NM_005629.4(SLC6A8):c.1432dup (p.Ala478fs)	SLC6A8 (A363fs +2 more)	Duplication (frameshift variant)	Creatine transporter deficiency	GLikely pathogenicFDA Recognized database
Select item 3066438	NM_005629.4(SLC6A8):c.301G>A (p.Gly101Arg)	SLC6A8 (G101R)	Single nucleotide variant (missense variant +1 more)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066437	NM_005629.4(SLC6A8):c.1381A>G (p.Met461Val)	SLC6A8 (M346V +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066436	NM_005629.4(SLC6A8):c.1261G>C (p.Gly421Arg)	SLC6A8 (G306R +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066435	NM_005629.4(SLC6A8):c.1206G>A (p.Trp402Ter)	SLC6A8 (W287* +2 more)	Single nucleotide variant (nonsense)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066434	NM_005629.4(SLC6A8):c.1190C>T (p.Pro397Leu)	SLC6A8 (P282L +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GLikely pathogenicFDA Recognized database
Select item 3066433	NM_005629.4(SLC6A8):c.952G>A (p.Ala318Thr)	SLC6A8 (A203T +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066432	NM_005629.4(SLC6A8):c.338G>A (p.Gly113Asp)	SLC6A8 (G113D)	Single nucleotide variant (missense variant +1 more)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066431	NM_005629.4(SLC6A8):c.219del (p.Asn74fs)	SLC6A8 (N74fs)	Deletion (frameshift variant)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066430	NM_005629.4(SLC6A8):c.92del (p.Pro31fs)	SLC6A8 (P31fs)	Deletion (frameshift variant)	Creatine transporter deficiency	GLikely pathogenicFDA Recognized database
Select item 3066429	NM_005629.4(SLC6A8):c.497del (p.Thr166fs)	SLC6A8 (T166fs +1 more)	Deletion (frameshift variant)	Creatine transporter deficiency	GLikely pathogenicFDA Recognized database
Select item 3066428	NM_005629.4(SLC6A8):c.1529T>A (p.Met510Lys)	SLC6A8 (M395K +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066427	NM_005629.4(SLC6A8):c.917G>A (p.Trp306Ter)	SLC6A8 (W191* +1 more)	Single nucleotide variant (nonsense)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066426	NM_005629.4(SLC6A8):c.1690_1703del (p.Phe564fs)	SLC6A8 (F449fs +2 more)	Deletion (frameshift variant)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3066425	NM_005629.4(SLC6A8):c.1685G>A (p.Trp562Ter)	SLC6A8 (W447* +2 more)	Single nucleotide variant (nonsense)	Creatine transporter deficiency	GLikely pathogenicFDA Recognized database
Select item 3066424	NM_005629.4(SLC6A8):c.1654G>T (p.Val552Leu)	SLC6A8 (V437L +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significanceFDA Recognized database
Select item 3066423	NM_005629.4(SLC6A8):c.786C>G (p.Tyr262Ter)	SLC6A8 (Y147* +1 more)	Single nucleotide variant (nonsense)	Creatine transporter deficiency	GPathogenicFDA Recognized database
Select item 3024165	NM_005629.4(SLC6A8):c.1769G>A (p.Arg590His)	SLC6A8 (R475H +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GLikely pathogenic
Select item 3023122	NM_005629.4(SLC6A8):c.262+16C>T	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 3021855	NM_005629.4(SLC6A8):c.1142-12C>T	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 3021470	NM_005629.4(SLC6A8):c.778-14G>T	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 3021061	NM_005629.4(SLC6A8):c.397C>G (p.Leu133Val)	SLC6A8 (L133V +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GLikely benign
Select item 3018437	NM_005629.4(SLC6A8):c.1737C>T (p.Cys579=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 3017517	NM_005629.4(SLC6A8):c.1305C>A (p.Ala435=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 3017100	NM_005629.4(SLC6A8):c.1767+12G>A	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 3015552	NM_005629.4(SLC6A8):c.1254+19G>C	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 3012314	NM_005629.4(SLC6A8):c.645-16_645-15inv	SLC6A8	Inversion (intron variant)	Creatine transporter deficiency	GUncertain significance
Select item 3010100	NM_005629.4(SLC6A8):c.111C>G (p.Pro37=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 3000422	NM_005629.4(SLC6A8):c.711T>G (p.Leu237=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 3000167	NM_005629.4(SLC6A8):c.1768-11C>G	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2997026	NM_005629.4(SLC6A8):c.468C>T (p.Phe156=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 2995887	NM_005629.4(SLC6A8):c.1496-11C>T	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2987867	NM_005629.4(SLC6A8):c.1495+16G>C	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2987121	NM_005629.4(SLC6A8):c.1016+20C>T	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2986430	NM_005629.4(SLC6A8):c.1491G>A (p.Val497=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 2985597	NM_005629.4(SLC6A8):c.1767+15C>G	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2980643	NM_005629.4(SLC6A8):c.1173G>A (p.Arg391=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 2974409	NM_005629.4(SLC6A8):c.742T>C (p.Phe248Leu)	SLC6A8 (F133L +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significance
Select item 2973335	NM_005629.4(SLC6A8):c.783G>A (p.Val261=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 2971967	NM_005629.4(SLC6A8):c.1392+18T>A	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2970855	NM_005629.4(SLC6A8):c.1768-15C>T	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2970765	NM_005629.4(SLC6A8):c.1590C>T (p.Val530=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 2965575	NM_005629.4(SLC6A8):c.537C>G (p.Pro179=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 2964528	NM_005629.4(SLC6A8):c.1392+10G>T	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2957830	NM_005629.4(SLC6A8):c.1254+16T>C	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2957576	NM_005629.4(SLC6A8):c.1596+15_1596+27del	SLC6A8	Deletion (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2955364	NM_005629.4(SLC6A8):c.1141+12C>T	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2920332	NM_005629.4(SLC6A8):c.777+8T>C	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2919273	NM_005629.4(SLC6A8):c.1017-20C>T	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2919271	NM_005629.4(SLC6A8):c.1392+15G>C	SLC6A8	Single nucleotide variant (intron variant)	Creatine transporter deficiency	GLikely benign
Select item 2918722	NM_005629.4(SLC6A8):c.1644C>T (p.Asn548=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 2916934	NM_005629.4(SLC6A8):c.1392T>C (p.Asp464=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GUncertain significance
Select item 2915952	NM_005629.4(SLC6A8):c.1482G>A (p.Val494=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 2915299	NM_005629.4(SLC6A8):c.1366G>A (p.Val456Ile)	SLC6A8 (V456I +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significance
Select item 2914616	NM_005629.4(SLC6A8):c.1794C>A (p.Ile598=)	SLC6A8	Single nucleotide variant (synonymous variant)	Creatine transporter deficiency	GLikely benign
Select item 2914526	NM_005629.4(SLC6A8):c.524C>T (p.Thr175Ile)	SLC6A8 (T60I +1 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significance
Select item 2912045	NM_005629.4(SLC6A8):c.1036C>G (p.Leu346Val)	SLC6A8 (L231V +1 more)	Single nucleotide variant (missense variant +1 more)	Creatine transporter deficiency	GUncertain significance
Select item 2911984	NM_005629.4(SLC6A8):c.1760T>C (p.Met587Thr)	SLC6A8 (M472T +2 more)	Single nucleotide variant (missense variant)	Creatine transporter deficiency	GUncertain significance

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