Sugi Variant

Sugi Variant/SLC6A8

SLC6A8 — 1181 ClinVar variants

All ClinVar germline SLC6A8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 294 flagged for review →

100 Pathogenic · 3 Pathogenic/Likely pathogenic · 78 Likely pathogenic · 16 Conflicting · 48 Benign · 59 Benign/Likely benign · 521 Likely benign · 356 Uncertain significance

Full SLC6A8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 294

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors agree, ClinVar conflicts 8

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 229

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 229

Predictors split 57

The independent predictors disagree with each other — read with care.

All SLC6A8 variants

Pathogenic 100

Pathogenic/Likely pathogenic 3

  • c.1016+2_1016+5del Multiple submitters creatine transporter deficiency
  • c.1254+1G>A Multiple submitters creatine transporter deficiency
  • p.Cys516Ter Multiple submitters creatine transporter deficiency

Likely pathogenic 78

  • c.1142-2A>G Expert panel creatine transporter deficiency
  • c.1767+1_1767+2insA Expert panel creatine transporter deficiency
  • c.778-2A>G Expert panel creatine transporter deficiency
  • p.Ala153fs Expert panel creatine transporter deficiency
  • p.Ala404Pro Expert panel creatine transporter deficiency
  • p.Ala478fs Expert panel creatine transporter deficiency
  • p.Arg207Trp Expert panel creatine transporter deficiency
  • p.Arg391Trp Expert panel creatine transporter deficiency ⚠
  • p.Asp474Gly Expert panel creatine transporter deficiency
  • p.Cys181Arg Expert panel creatine transporter deficiency
  • p.Cys491Trp Expert panel creatine transporter deficiency
  • p.Gln114His Expert panel creatine transporter deficiency
  • p.Gln304= Expert panel creatine transporter deficiency
  • p.Gly132Val Expert panel creatine transporter deficiency
  • p.Gly253Arg Expert panel creatine transporter deficiency
  • p.Gly424Asp Expert panel creatine transporter deficiency
  • p.Gly466Arg Expert panel creatine transporter deficiency
  • p.Gly533fs Expert panel creatine transporter deficiency
  • p.Gly561Arg Expert panel creatine transporter deficiency
  • p.Lys18fs Expert panel creatine transporter deficiency
  • p.Phe315del Expert panel creatine transporter deficiency
  • p.Phe315fs Expert panel creatine transporter deficiency
  • p.Phe354del Expert panel creatine transporter deficiency
  • p.Phe360del Expert panel creatine transporter deficiency
  • p.Pro209fs Expert panel creatine transporter deficiency
  • p.Pro31fs Expert panel creatine transporter deficiency
  • p.Pro382Leu Expert panel creatine transporter deficiency
  • p.Pro397Leu Expert panel creatine transporter deficiency
  • p.Pro544Leu Expert panel creatine transporter deficiency
  • p.Ser567Pro Expert panel creatine transporter deficiency
  • p.Ser64del Expert panel creatine transporter deficiency
  • p.Thr166fs Expert panel creatine transporter deficiency
  • p.Trp169Ter Expert panel creatine transporter deficiency
  • p.Trp562Ter Expert panel creatine transporter deficiency
  • p.Val250fs Expert panel creatine transporter deficiency
  • c.1255-35_1272del Single submitter creatine transporter deficiency
  • c.1495+1G>A Single submitter creatine transporter deficiency
  • c.1597-1G>A Single submitter creatine transporter deficiency
  • c.262+1G>A Single submitter creatine transporter deficiency
  • c.263-3_271del Single submitter creatine transporter deficiency
  • c.394+2T>G Single submitter creatine transporter deficiency
  • c.395-1G>T Single submitter creatine transporter deficiency
  • c.644+5G>C Single submitter creatine transporter deficiency
  • c.777+1G>A Single submitter creatine transporter deficiency
  • c.778-1G>C Single submitter SLC6A8-related disorder
  • c.859_913-39del Single submitter creatine transporter deficiency
  • c.912+2T>G Single submitter creatine transporter deficiency
  • p.Ala403Val Single submitter Low-set ears
  • p.Ala69fs Single submitter creatine transporter deficiency
  • p.Arg440fs Single submitter creatine transporter deficiency
  • p.Arg590His Single submitter creatine transporter deficiency
  • p.Arg77Ser Single submitter creatine transporter deficiency
  • p.Asn538fs Single submitter creatine transporter deficiency
  • p.Asp28fs Single submitter creatine transporter deficiency
  • p.Asp308Glu Single submitter ⚠
  • p.Asp35fs Single submitter creatine transporter deficiency
  • p.Asp501fs Single submitter creatine transporter deficiency
  • p.Cys571fs Single submitter creatine transporter deficiency
  • p.Gln418Lys Single submitter neurodevelopmental disorder
  • p.Glu215Ter Single submitter creatine transporter deficiency
  • p.Gly322Trp Single submitter creatine transporter deficiency
  • p.Gly561Ser Single submitter creatine transporter deficiency
  • p.Gly67Arg Single submitter creatine transporter deficiency
  • p.Gly86Asp Single submitter creatine transporter deficiency
  • p.Leu545fs Single submitter creatine transporter deficiency
  • p.Lys33fs Single submitter creatine transporter deficiency
  • p.Met116fs Single submitter creatine transporter deficiency
  • p.Met510fs Single submitter creatine transporter deficiency
  • p.Phe386fs Single submitter creatine transporter deficiency
  • p.Pro209Arg Single submitter creatine transporter deficiency
  • p.Ser417Asn Single submitter
  • p.Trp176_Asn177delinsTyr Single submitter creatine transporter deficiency
  • p.Trp306Arg Single submitter
  • p.Trp306fs Single submitter
  • p.Trp485fs Single submitter creatine transporter deficiency
  • p.Trp485Ter Single submitter creatine transporter deficiency
  • p.Trp555Ter Single submitter creatine transporter deficiency
  • p.Tyr143Ter Single submitter creatine transporter deficiency

Conflicting classifications of pathogenicity 16

Benign 48

  • c.1016+9C>T Expert panel creatine transporter deficiency
  • c.1141+37G>A Expert panel creatine transporter deficiency
  • c.1596+24_1597-41dup Expert panel creatine transporter deficiency
  • c.645-14C>T Expert panel creatine transporter deficiency
  • c.912+9G>A Expert panel creatine transporter deficiency
  • p.Ala388Thr Expert panel creatine transporter deficiency ⚠
  • p.Leu276= Expert panel creatine transporter deficiency
  • p.Val182Met Expert panel creatine transporter deficiency
  • c.1255-31C>T Multiple submitters
  • c.1496-18C>T Multiple submitters creatine transporter deficiency
  • c.394+88G>A Multiple submitters creatine transporter deficiency
  • c.1017-5C>T Single submitter creatine transporter deficiency
  • c.1142-19G>A Single submitter creatine transporter deficiency
  • c.1254+6C>T Single submitter creatine transporter deficiency
  • c.1392+12G>T Single submitter creatine transporter deficiency
  • c.1392+17G>A Single submitter creatine transporter deficiency
  • c.1393-3del Single submitter creatine transporter deficiency
  • c.1496-7G>A Single submitter creatine transporter deficiency
  • c.1596+11G>A Single submitter creatine transporter deficiency
  • c.1596+14dup Single submitter creatine transporter deficiency
  • c.1767+19C>G Single submitter creatine transporter deficiency
  • c.395-4C>T Single submitter creatine transporter deficiency
  • c.645-17C>T Single submitter creatine transporter deficiency
  • c.778-3dup Single submitter creatine transporter deficiency
  • c.913-14C>T Single submitter creatine transporter deficiency
  • c.913-19C>T Single submitter creatine transporter deficiency
  • p.Ala24Val Single submitter creatine transporter deficiency
  • p.Ala385= Single submitter creatine transporter deficiency
  • p.Asp431= Single submitter creatine transporter deficiency
  • p.Gln609= Single submitter creatine transporter deficiency
  • p.Glu226= Single submitter creatine transporter deficiency
  • p.Glu543Gln Single submitter creatine transporter deficiency
  • p.Gly102= Single submitter creatine transporter deficiency
  • p.Gly284= Single submitter creatine transporter deficiency
  • p.Gly466= Single submitter creatine transporter deficiency
  • p.Ile343Val Single submitter creatine transporter deficiency
  • p.Met560Ile Single submitter creatine transporter deficiency
  • p.Phe360= Single submitter creatine transporter deficiency
  • p.Phe473= Single submitter creatine transporter deficiency
  • p.Pro21Ser Single submitter creatine transporter deficiency
  • p.Pro25Leu Single submitter creatine transporter deficiency
  • p.Ser349= Single submitter creatine transporter deficiency
  • p.Val271Ile Single submitter creatine transporter deficiency
  • p.Val277= Single submitter creatine transporter deficiency
  • p.Val539Ile Single submitter creatine transporter deficiency
  • p.Val540= Single submitter creatine transporter deficiency
  • p.Val546Ile Single submitter creatine transporter deficiency
  • c.1017-38C>G No assertion criteria SLC6A8-related disorder

Benign/Likely benign 59

  • c.1016+10G>A Multiple submitters creatine transporter deficiency
  • c.1016+12C>T Multiple submitters creatine transporter deficiency
  • c.1141+18G>A Multiple submitters creatine transporter deficiency
  • c.1141+6G>A Multiple submitters creatine transporter deficiency
  • c.1254+18G>A Multiple submitters creatine transporter deficiency
  • c.1392+17dup Multiple submitters creatine transporter deficiency
  • c.1496-17G>A Multiple submitters creatine transporter deficiency
  • c.1496-4G>A Multiple submitters creatine transporter deficiency
  • c.1496-5C>T Multiple submitters Inborn genetic diseases
  • c.1496-8C>T Multiple submitters creatine transporter deficiency
  • c.1597-19G>A Multiple submitters creatine transporter deficiency
  • c.1597-20C>T Multiple submitters creatine transporter deficiency
  • c.1597-5C>T Multiple submitters Inborn genetic diseases
  • c.1767+11C>T Multiple submitters creatine transporter deficiency
  • c.1767+15C>T Multiple submitters creatine transporter deficiency
  • c.1767+8_1767+11dup Multiple submitters creatine transporter deficiency
  • c.1768-3C>T Multiple submitters Inborn genetic diseases
  • c.644+20G>A Multiple submitters creatine transporter deficiency
  • c.645-6C>T Multiple submitters Inborn genetic diseases
  • c.777+4C>T Multiple submitters Inborn genetic diseases
  • c.912+19G>A Multiple submitters creatine transporter deficiency
  • c.-5A>G Multiple submitters Inborn genetic diseases
  • p.Arg502= Multiple submitters creatine transporter deficiency
  • p.Arg514Gln Multiple submitters creatine transporter deficiency ⚠
  • p.Asp201= Multiple submitters Inborn genetic diseases
  • p.Asp340= Multiple submitters Inborn genetic diseases
  • p.Asp506Asn Multiple submitters Inborn genetic diseases
  • p.Cys491= Multiple submitters creatine transporter deficiency
  • p.Cys571= Multiple submitters Inborn genetic diseases
  • p.Glu624Lys Multiple submitters creatine transporter deficiency
  • p.Gly29= Multiple submitters creatine transporter deficiency
  • p.Gly371= Multiple submitters creatine transporter deficiency
  • p.Gly499= Multiple submitters creatine transporter deficiency
  • p.Ile211= Multiple submitters creatine transporter deficiency
  • p.Ile260= Multiple submitters Inborn genetic diseases
  • p.Leu286= Multiple submitters Inborn genetic diseases
  • p.Met560Val Multiple submitters creatine transporter deficiency
  • p.Phe357= Multiple submitters Inborn genetic diseases
  • p.Phe564= Multiple submitters creatine transporter deficiency
  • p.Phe564Leu Multiple submitters creatine transporter deficiency ⚠
  • p.Pro528= Multiple submitters creatine transporter deficiency
  • p.Pro544= Multiple submitters creatine transporter deficiency
  • p.Pro554= Multiple submitters creatine transporter deficiency
  • p.Ser479= Multiple submitters Inborn genetic diseases
  • p.Thr165= Multiple submitters creatine transporter deficiency
  • p.Thr166= Multiple submitters Inborn genetic diseases
  • p.Thr178Ser Multiple submitters Inborn genetic diseases
  • p.Thr325= Multiple submitters creatine transporter deficiency
  • p.Thr550Ser Multiple submitters Inborn genetic diseases
  • p.Tyr269= Multiple submitters Inborn genetic diseases
  • p.Tyr468= Multiple submitters creatine transporter deficiency
  • p.Tyr498= Multiple submitters Inborn genetic diseases
  • p.Tyr542= Multiple submitters Inborn genetic diseases
  • p.Tyr94= Multiple submitters creatine transporter deficiency
  • p.Val271= Multiple submitters Inborn genetic diseases
  • p.Val273= Multiple submitters creatine transporter deficiency
  • p.Val492Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val628= Multiple submitters creatine transporter deficiency
  • p.Val630= Multiple submitters Inborn genetic diseases

Likely benign 521

Showing the top 300 by review status; the full set is in the sitemap.

  • c.644+9G>A Expert panel creatine transporter deficiency
  • c.913-8T>C Expert panel creatine transporter deficiency
  • p.Ala495Thr Expert panel creatine transporter deficiency ⚠
  • p.Arg186His Expert panel creatine transporter deficiency
  • p.Arg440His Expert panel creatine transporter deficiency ⚠
  • p.Asn336= Expert panel creatine transporter deficiency
  • p.Asn549Thr Expert panel creatine transporter deficiency
  • p.Cys509Arg Expert panel creatine transporter deficiency
  • p.Gly9Val Expert panel creatine transporter deficiency
  • p.Ile342Thr Expert panel creatine transporter deficiency
  • p.Ile534Thr Expert panel creatine transporter deficiency ⚠
  • p.Leu429Val Expert panel creatine transporter deficiency
  • p.Leu604Met Expert panel creatine transporter deficiency
  • p.Lys627Gln Expert panel creatine transporter deficiency
  • p.Phe407= Expert panel creatine transporter deficiency
  • p.Pro621Ser Expert panel creatine transporter deficiency
  • p.Ser524Thr Expert panel creatine transporter deficiency
  • p.Val227= Expert panel creatine transporter deficiency
  • p.Val572Met Expert panel creatine transporter deficiency ⚠
  • c.1017-7C>T Multiple submitters creatine transporter deficiency
  • c.1392+15G>A Multiple submitters creatine transporter deficiency
  • c.1393-11C>T Multiple submitters creatine transporter deficiency
  • c.1393-7C>T Multiple submitters creatine transporter deficiency
  • c.1495+8A>G Multiple submitters creatine transporter deficiency
  • c.1597-6C>T Multiple submitters creatine transporter deficiency
  • c.1767+11C>A Multiple submitters creatine transporter deficiency
  • c.1767+15C>G Multiple submitters creatine transporter deficiency
  • c.1767+16G>A Multiple submitters creatine transporter deficiency
  • c.1767+20C>T Multiple submitters creatine transporter deficiency
  • c.1768-10T>C Multiple submitters creatine transporter deficiency
  • c.1768-11CT[3] Multiple submitters creatine transporter deficiency
  • c.1768-16T>C Multiple submitters creatine transporter deficiency
  • c.1768-9C>G Multiple submitters creatine transporter deficiency
  • c.395-9C>T Multiple submitters creatine transporter deficiency
  • c.644+8C>T Multiple submitters creatine transporter deficiency
  • c.912+15G>A Multiple submitters creatine transporter deficiency
  • c.913-13G>T Multiple submitters creatine transporter deficiency
  • p.Ala118= Multiple submitters Inborn genetic diseases
  • p.Ala153= Multiple submitters creatine transporter deficiency
  • p.Ala193= Multiple submitters creatine transporter deficiency
  • p.Ala559= Multiple submitters creatine transporter deficiency
  • p.Ala611Thr Multiple submitters creatine transporter deficiency
  • p.Arg502Cys Multiple submitters creatine transporter deficiency
  • p.Asn122= Multiple submitters creatine transporter deficiency
  • p.Asn125= Multiple submitters creatine transporter deficiency
  • p.Asn538= Multiple submitters creatine transporter deficiency
  • p.Asp506= Multiple submitters creatine transporter deficiency
  • p.Asp610= Multiple submitters creatine transporter deficiency
  • p.Gln58= Multiple submitters creatine transporter deficiency
  • p.Gly224= Multiple submitters Inborn genetic diseases
  • p.Gly34= Multiple submitters creatine transporter deficiency
  • p.Gly350= Multiple submitters creatine transporter deficiency
  • p.Gly428= Multiple submitters creatine transporter deficiency
  • p.Gly67= Multiple submitters creatine transporter deficiency
  • p.Ile10= Multiple submitters creatine transporter deficiency
  • p.Ile105= Multiple submitters creatine transporter deficiency
  • p.Ile387= Multiple submitters creatine transporter deficiency
  • p.Ile511= Multiple submitters Inborn genetic diseases
  • p.Ile534Met Multiple submitters creatine transporter deficiency
  • p.Leu225= Multiple submitters creatine transporter deficiency
  • p.Leu237= Multiple submitters creatine transporter deficiency
  • p.Leu275= Multiple submitters creatine transporter deficiency
  • p.Leu327= Multiple submitters Inborn genetic diseases
  • p.Leu346= Multiple submitters creatine transporter deficiency
  • p.Leu430= Multiple submitters Inborn genetic diseases
  • p.Leu72= Multiple submitters creatine transporter deficiency
  • p.Phe213= Multiple submitters creatine transporter deficiency
  • p.Phe68= Multiple submitters creatine transporter deficiency
  • p.Phe78= Multiple submitters creatine transporter deficiency
  • p.Pro209= Multiple submitters creatine transporter deficiency
  • p.Pro573= Multiple submitters creatine transporter deficiency
  • p.Ser298= Multiple submitters creatine transporter deficiency
  • p.Ser477= Multiple submitters creatine transporter deficiency
  • p.Ser623= Multiple submitters Inborn genetic diseases
  • p.Ser633= Multiple submitters creatine transporter deficiency
  • p.Thr171= Multiple submitters creatine transporter deficiency
  • p.Thr236= Multiple submitters creatine transporter deficiency
  • p.Thr264= Multiple submitters creatine transporter deficiency
  • p.Thr351= Multiple submitters creatine transporter deficiency
  • p.Thr427= Multiple submitters creatine transporter deficiency
  • p.Tyr135= Multiple submitters creatine transporter deficiency
  • p.Tyr157= Multiple submitters creatine transporter deficiency
  • p.Tyr262= Multiple submitters Inborn genetic diseases
  • p.Tyr317= Multiple submitters creatine transporter deficiency
  • p.Tyr330= Multiple submitters creatine transporter deficiency
  • p.Tyr551= Multiple submitters creatine transporter deficiency
  • p.Val38= Multiple submitters
  • p.Val49= Multiple submitters creatine transporter deficiency
  • p.Val629= Multiple submitters creatine transporter deficiency
  • c.1016+10G>T Single submitter creatine transporter deficiency
  • c.1016+12C>G Single submitter creatine transporter deficiency
  • c.1016+13G>A Single submitter creatine transporter deficiency
  • c.1016+17_1016+24dup Single submitter creatine transporter deficiency
  • c.1016+19C>A Single submitter creatine transporter deficiency
  • c.1016+20C>T Single submitter creatine transporter deficiency
  • c.1016+8C>T Single submitter creatine transporter deficiency
  • c.1016+9C>A Single submitter creatine transporter deficiency
  • c.1017-10C>T Single submitter creatine transporter deficiency
  • c.1017-11C>T Single submitter creatine transporter deficiency
  • c.1017-15C>T Single submitter creatine transporter deficiency
  • c.1017-16C>G Single submitter creatine transporter deficiency
  • c.1017-19T>C Single submitter creatine transporter deficiency
  • c.1017-20C>T Single submitter creatine transporter deficiency
  • c.1017-4del Single submitter creatine transporter deficiency
  • c.1017-4T>G Single submitter creatine transporter deficiency
  • c.1017-5C>A Single submitter creatine transporter deficiency
  • c.1141+12C>T Single submitter creatine transporter deficiency
  • c.1141+15_1141+16dup Single submitter creatine transporter deficiency
  • c.1141+19C>T Single submitter creatine transporter deficiency
  • c.1142-12C>T Single submitter creatine transporter deficiency
  • c.1142-15_1142-14dup Single submitter creatine transporter deficiency
  • c.1142-15G>A Single submitter creatine transporter deficiency
  • c.1142-5C>A Single submitter creatine transporter deficiency
  • c.1142-5C>G Single submitter creatine transporter deficiency
  • c.1142-6C>A Single submitter creatine transporter deficiency
  • c.1142-6C>T Single submitter creatine transporter deficiency
  • c.1142-8T>A Single submitter creatine transporter deficiency
  • c.1254+10G>A Single submitter creatine transporter deficiency
  • c.1254+11G>A Single submitter creatine transporter deficiency
  • c.1254+12G>A Single submitter creatine transporter deficiency
  • c.1254+16T>C Single submitter creatine transporter deficiency
  • c.1254+17G>C Single submitter creatine transporter deficiency
  • c.1254+19G>C Single submitter creatine transporter deficiency
  • c.1254+7A>G Single submitter creatine transporter deficiency
  • c.1255-10C>G Single submitter creatine transporter deficiency
  • c.1255-10C>T Single submitter creatine transporter deficiency
  • c.1255-14dup Single submitter creatine transporter deficiency
  • c.1255-18G>A Single submitter creatine transporter deficiency
  • c.1255-44del Single submitter
  • c.1255-7G>C Single submitter creatine transporter deficiency
  • c.1392+10G>A Single submitter creatine transporter deficiency
  • c.1392+10G>T Single submitter creatine transporter deficiency
  • c.1392+12G>A Single submitter creatine transporter deficiency
  • c.1392+13G>T Single submitter creatine transporter deficiency
  • c.1392+14G>A Single submitter creatine transporter deficiency
  • c.1392+15G>C Single submitter creatine transporter deficiency
  • c.1392+16_1392+17dup Single submitter creatine transporter deficiency
  • c.1392+17G>T Single submitter creatine transporter deficiency
  • c.1392+18T>A Single submitter creatine transporter deficiency
  • c.1392+19C>T Single submitter creatine transporter deficiency
  • c.1392+7G>C Single submitter creatine transporter deficiency
  • c.1393-10T>C Single submitter creatine transporter deficiency
  • c.1393-11C>G Single submitter creatine transporter deficiency
  • c.1393-13C>G Single submitter creatine transporter deficiency
  • c.1393-14G>A Single submitter creatine transporter deficiency
  • c.1393-18C>G Single submitter creatine transporter deficiency
  • c.1393-18C>T Single submitter creatine transporter deficiency
  • c.1393-4C>G Single submitter creatine transporter deficiency
  • c.1393-4C>T Single submitter creatine transporter deficiency
  • c.1393-5C>G Single submitter creatine transporter deficiency
  • c.1393-5C>T Single submitter creatine transporter deficiency
  • c.1393-7C>A Single submitter creatine transporter deficiency
  • c.1495+14dup Single submitter creatine transporter deficiency
  • c.1495+16G>C Single submitter creatine transporter deficiency
  • c.1495+16GGGCT[3] Single submitter creatine transporter deficiency
  • c.1495+19C>T Single submitter creatine transporter deficiency
  • c.1495+20T>C Single submitter
  • c.1495+7C>T Single submitter creatine transporter deficiency
  • c.1496-10C>G Single submitter creatine transporter deficiency
  • c.1496-10C>T Single submitter creatine transporter deficiency
  • c.1496-11C>T Single submitter creatine transporter deficiency
  • c.1496-20C>G Single submitter creatine transporter deficiency
  • c.1496-20C>T Single submitter creatine transporter deficiency
  • c.1496-7G>C Single submitter creatine transporter deficiency
  • c.1596+10G>A Single submitter creatine transporter deficiency
  • c.1596+11G>C Single submitter creatine transporter deficiency
  • c.1596+15_1596+27del Single submitter creatine transporter deficiency
  • c.1596+19G>A Single submitter creatine transporter deficiency
  • c.1596+20G>A Single submitter creatine transporter deficiency
  • c.1596+7G>A Single submitter creatine transporter deficiency
  • c.1596+8C>T Single submitter creatine transporter deficiency
  • c.1596+9T>C Single submitter creatine transporter deficiency
  • c.1596+9T>G Single submitter creatine transporter deficiency
  • c.1597-11C>G Single submitter creatine transporter deficiency
  • c.1597-12del Single submitter creatine transporter deficiency
  • c.1597-14A>G Single submitter creatine transporter deficiency
  • c.1597-17A>G Single submitter creatine transporter deficiency
  • c.1597-18C>T Single submitter creatine transporter deficiency
  • c.1597-20C>G Single submitter creatine transporter deficiency
  • c.1597-4G>A Single submitter creatine transporter deficiency
  • c.1597-4G>C Single submitter creatine transporter deficiency
  • c.1597-8G>C Single submitter creatine transporter deficiency
  • c.1767+10C>A Single submitter creatine transporter deficiency
  • c.1767+10C>T Single submitter creatine transporter deficiency
  • c.1767+11dup Single submitter
  • c.1767+12G>A Single submitter creatine transporter deficiency
  • c.1767+12GCCCG[3] Single submitter creatine transporter deficiency
  • c.1767+13C>T Single submitter creatine transporter deficiency
  • c.1767+15_1767+16insCCG Single submitter
  • c.1767+15_1767+16insCG Single submitter
  • c.1767+15_1767+16insCGG Single submitter
  • c.1767+16_1767+24dup Single submitter creatine transporter deficiency
  • c.1767+16_1767+33del Single submitter creatine transporter deficiency
  • c.1767+16G>C Single submitter creatine transporter deficiency
  • c.1767+17G>T Single submitter creatine transporter deficiency
  • c.1767+18C>G Single submitter
  • c.1767+18C>T Single submitter creatine transporter deficiency
  • c.1767+19C>T Single submitter creatine transporter deficiency
  • c.1767+20C>A Single submitter creatine transporter deficiency
  • c.1767+21_1767+29dup Single submitter creatine transporter deficiency
  • c.1767+7C>G Single submitter creatine transporter deficiency
  • c.1767+8_1767+9insGCC Single submitter
  • c.1767+8_1767+9insGCCCC Single submitter
  • c.1767+8_1767+9insGCCCCC Single submitter
  • c.1767+8T>C Single submitter creatine transporter deficiency
  • c.1767+9C>A Single submitter creatine transporter deficiency
  • c.1768-11_1768-9del Single submitter creatine transporter deficiency
  • c.1768-11C>G Single submitter creatine transporter deficiency
  • c.1768-11C>T Single submitter creatine transporter deficiency
  • c.1768-13T>C Single submitter creatine transporter deficiency
  • c.1768-14C>G Single submitter creatine transporter deficiency
  • c.1768-14C>T Single submitter creatine transporter deficiency
  • c.1768-15C>T Single submitter creatine transporter deficiency
  • c.1768-7C>T Single submitter creatine transporter deficiency
  • c.1768-8_1768-7del Single submitter creatine transporter deficiency
  • c.262+10C>T Single submitter creatine transporter deficiency
  • c.262+11C>T Single submitter creatine transporter deficiency
  • c.262+12C>T Single submitter creatine transporter deficiency
  • c.262+16C>T Single submitter creatine transporter deficiency
  • c.262+17G>C Single submitter creatine transporter deficiency
  • c.262+19C>T Single submitter creatine transporter deficiency
  • c.262+3G>A Single submitter
  • c.262+724T>C Single submitter
  • c.262+8C>T Single submitter creatine transporter deficiency
  • c.263-10C>T Single submitter creatine transporter deficiency
  • c.263-11T>C Single submitter creatine transporter deficiency
  • c.263-12C>T Single submitter creatine transporter deficiency
  • c.263-13C>T Single submitter creatine transporter deficiency
  • c.263-16G>A Single submitter creatine transporter deficiency
  • c.263-18C>T Single submitter creatine transporter deficiency
  • c.263-19G>A Single submitter creatine transporter deficiency
  • c.263-20C>G Single submitter creatine transporter deficiency
  • c.263-20C>T Single submitter creatine transporter deficiency
  • c.263-6C>T Single submitter creatine transporter deficiency
  • c.263-7C>T Single submitter creatine transporter deficiency
  • c.263-9C>A Single submitter creatine transporter deficiency
  • c.263-9C>T Single submitter creatine transporter deficiency
  • c.394+10C>T Single submitter creatine transporter deficiency
  • c.394+11dup Single submitter creatine transporter deficiency
  • c.394+17C>G Single submitter creatine transporter deficiency
  • c.394+22_394+42del Single submitter creatine transporter deficiency
  • c.395-13T>C Single submitter creatine transporter deficiency
  • c.395-7G>A Single submitter creatine transporter deficiency
  • c.644+10G>T Single submitter creatine transporter deficiency
  • c.644+12A>T Single submitter creatine transporter deficiency
  • c.644+14C>G Single submitter creatine transporter deficiency
  • c.644+14C>T Single submitter creatine transporter deficiency
  • c.644+16C>G Single submitter creatine transporter deficiency
  • c.644+8C>A Single submitter creatine transporter deficiency
  • c.644+9G>C Single submitter creatine transporter deficiency
  • c.645-12T>A Single submitter creatine transporter deficiency
  • c.645-18CCTC[2] Single submitter creatine transporter deficiency
  • c.645-18CCTC[4] Single submitter creatine transporter deficiency
  • c.645-4C>T Single submitter creatine transporter deficiency
  • c.645-6C>A Single submitter creatine transporter deficiency
  • c.645-6C>G Single submitter creatine transporter deficiency
  • c.777+7C>G Single submitter creatine transporter deficiency
  • c.777+8T>C Single submitter creatine transporter deficiency
  • c.777+9_777+16dup Single submitter creatine transporter deficiency
  • c.778-11T>C Single submitter creatine transporter deficiency
  • c.778-14del Single submitter creatine transporter deficiency
  • c.778-14G>T Single submitter creatine transporter deficiency
  • c.778-4C>G Single submitter creatine transporter deficiency
  • c.778-8C>T Single submitter creatine transporter deficiency
  • c.912+12_912+17del Single submitter creatine transporter deficiency
  • c.912+19G>C Single submitter creatine transporter deficiency
  • c.912+3GAGGTG[3] Single submitter creatine transporter deficiency
  • c.912+9G>C Single submitter creatine transporter deficiency
  • c.913-10C>G Single submitter creatine transporter deficiency
  • c.913-13G>A Single submitter creatine transporter deficiency
  • c.913-17C>G Single submitter
  • c.913-19C>A Single submitter creatine transporter deficiency
  • c.913-20G>A Single submitter creatine transporter deficiency
  • c.913-5T>C Single submitter
  • c.-11C>T Single submitter
  • c.-5del Single submitter
  • c.*18C>G Single submitter
  • c.*3_*7del Single submitter
  • p.Ala170= Single submitter creatine transporter deficiency
  • p.Ala191= Single submitter creatine transporter deficiency
  • p.Ala2= Single submitter creatine transporter deficiency
  • p.Ala204= Single submitter creatine transporter deficiency
  • p.Ala204Asp Single submitter Inborn genetic diseases
  • p.Ala24= Single submitter creatine transporter deficiency
  • p.Ala30= Single submitter creatine transporter deficiency
  • p.Ala309= Single submitter creatine transporter deficiency
  • p.Ala32= Single submitter creatine transporter deficiency
  • p.Ala341= Single submitter creatine transporter deficiency
  • p.Ala341Thr Single submitter creatine transporter deficiency
  • p.Ala378= Single submitter creatine transporter deficiency
  • p.Ala388= Single submitter creatine transporter deficiency
  • p.Ala399= Single submitter creatine transporter deficiency
  • p.Ala435= Single submitter creatine transporter deficiency
  • p.Ala448= Single submitter creatine transporter deficiency
  • p.Ala452= Single submitter creatine transporter deficiency
  • p.Ala478= Single submitter creatine transporter deficiency
  • p.Ala48= Single submitter creatine transporter deficiency
  • p.Ala495= Single submitter creatine transporter deficiency
  • p.Ala500= Single submitter creatine transporter deficiency
  • p.Ala563= Single submitter creatine transporter deficiency

Uncertain significance 356

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