Sugi Variant

Sugi Variant/MFSD8

MFSD8 — 1020 ClinVar variants

All ClinVar germline MFSD8 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 321 flagged for review →

69 Pathogenic · 27 Pathogenic/Likely pathogenic · 67 Likely pathogenic · 44 Conflicting · 40 Benign · 14 Benign/Likely benign · 371 Likely benign · 388 Uncertain significance

Full MFSD8 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 321

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 vs ClinVar 5

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 23

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

Predictors lean, ClinVar uncertain 244

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 244

Predictors split 49

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

All MFSD8 variants

Pathogenic 69

  • c.63-1G>A Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • c.754+1G>C Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • c.863+1G>A Multiple submitters Inborn genetic diseases
  • p.Arg35Ter Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Asp368His Multiple submitters MFSD8-related disorders ⚠
  • p.Gln206Ter Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Gln87Ter Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Glu381Ter Multiple submitters MFSD8-related disorders
  • p.Leu355Ter Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Thr73fs Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Trp200Ter Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Trp479Ter Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Trp78Ter Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Tyr298Ter Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • p.Val327fs Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • c.1350+1G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.698+2T>A Single submitter macular dystrophy with central cone involvement
  • c.699-1G>A Single submitter microcephaly 5, primary, autosomal recessive
  • c.863+1G>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.863+1G>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.863+995_998+1480del Single submitter neuronal ceroid lipofuscinosis 7
  • c.998+1G>A Single submitter
  • p.Ala252fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala314fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala406fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asn371fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asp72fs Single submitter neuronal ceroid lipofuscinosis
  • p.Cys119Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln243Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln258Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln266Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln365Ter Single submitter
  • p.Glu22fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Glu250Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Glu9fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly179Cys Single submitter Seizure
  • p.Gly480fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile231fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile247_Asn248insTer Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile247fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile345fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile364fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile374fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu275fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu307fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu313fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu325Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu354fs Single submitter
  • p.Met46fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Phe281fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Pro292_Leu293insTer Single submitter neuronal ceroid lipofuscinosis 7
  • p.Pro412fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ser240Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Thr439fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Thr458Lys Single submitter MFSD8-related disorders
  • p.Thr45fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Trp300Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Trp357Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Trp407fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Trp97fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Trp97Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Tyr121fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Tyr410Ter Single submitter neuronal ceroid lipofuscinosis 7
  • c.(698+1_699-1 No assertion criteria inherited retinal dystrophy
  • c.854_863+31del No assertion criteria inherited retinal dystrophy
  • c.863+3_863+4insT No assertion criteria neuronal ceroid lipofuscinosis 7
  • p.Ala157Pro No assertion criteria neuronal ceroid lipofuscinosis 7
  • p.Gly429Asp No assertion criteria neuronal ceroid lipofuscinosis 7
  • p.Gly451_Val452insTer No assertion criteria neuronal ceroid lipofuscinosis 7

Pathogenic/Likely pathogenic 27

  • c.1102+2T>C Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • c.1350+2T>C Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.198+2T>C Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.553+1G>A Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.63-2A>G Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • c.754+1G>A Multiple submitters macular dystrophy with central cone involvement
  • c.754+1G>T Multiple submitters hereditary ataxia
  • c.754+2T>A Multiple submitters MFSD8-related disorders
  • c.864-1G>A Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • p.Arg482Ter Multiple submitters MFSD8-related disorders
  • p.Gln304Ter Multiple submitters macular dystrophy with central cone involvement
  • p.Gln405Ter Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Glu22Ter Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • p.Gly179fs Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Gly197fs Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Gly446fs Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • p.Leu26Ter Multiple submitters macular dystrophy with central cone involvement
  • p.Met454Thr Multiple submitters neuronal ceroid lipofuscinosis ⚠
  • p.Phe471fs Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • p.Pro375fs Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Pro412Leu Multiple submitters MFSD8-related disorders
  • p.Ser442Ter Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • p.Thr294Lys Multiple submitters MFSD8-related disorders
  • p.Trp387fs Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • p.Val198fs Multiple submitters MFSD8-related disorders
  • p.Val278fs Multiple submitters MFSD8-related disorders
  • p.Val346fs Multiple submitters neuronal ceroid lipofuscinosis 7

Likely pathogenic 67

  • c.1102+1G>A Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.1103-2del Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.154+1G>A Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.439+2T>A Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • c.440-2A>T Multiple submitters neuronal ceroid lipofuscinosis
  • c.699-1G>C Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • c.864-2A>G Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ala464Thr Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Arg139Leu Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Met1Thr Multiple submitters late infantile neuronal ceroid lipofuscinosis
  • c.1103-2A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.1351-2A>G Single submitter late infantile neuronal ceroid lipofuscinosis
  • c.154+2dup Single submitter
  • c.198+1G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.198+1G>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.198+2T>G Single submitter macular dystrophy with central cone involvement
  • c.199-1G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.199-1G>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.199-2A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.54_62+11del Single submitter MFSD8-related disorders
  • c.554-1G>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.554-2A>T Single submitter Inborn genetic diseases
  • c.63-6_83del Single submitter neuronal ceroid lipofuscinosis 7
  • c.63-652_74del Single submitter neuronal ceroid lipofuscinosis 7
  • c.698+1G>A Single submitter macular dystrophy with central cone involvement
  • c.699-2A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.755-1G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.755-2A>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.863+1del Single submitter neuronal ceroid lipofuscinosis 7
  • c.998+1G>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.998+2T>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.998+3_998+6del Single submitter late infantile neuronal ceroid lipofuscinosis
  • c.999-1G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.999-556C>G Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala320Val Single submitter MFSD8-related disorders ⚠
  • p.Arg153fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asn148Asp Single submitter late infantile neuronal ceroid lipofuscinosis
  • p.Asn208Lys Single submitter MFSD8-related disorders
  • p.Asn224Tyr Single submitter macular dystrophy with central cone involvement ⚠
  • p.Asp368Asn Single submitter macular dystrophy with central cone involvement ⚠
  • p.Cys175Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Cys401fs Single submitter MFSD8-related disorders
  • p.Gln10Ter Single submitter macular dystrophy with central cone involvement
  • p.Gln243fs Single submitter MFSD8-related disorders
  • p.Gln450Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln65Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Glu9Ter Single submitter macular dystrophy with central cone involvement
  • p.Gly158Ser Single submitter macular dystrophy with central cone involvement ⚠
  • p.Gly19fs Single submitter late infantile neuronal ceroid lipofuscinosis
  • p.Gly310Asp Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly343fs Single submitter
  • p.Gly3fs Single submitter late infantile neuronal ceroid lipofuscinosis
  • p.Leu280fs Single submitter late infantile neuronal ceroid lipofuscinosis
  • p.Leu341fs Single submitter
  • p.Met1Leu Single submitter
  • p.Met1Lys Single submitter neuronal ceroid lipofuscinosis 7
  • p.Met1Val Single submitter neuronal ceroid lipofuscinosis 7
  • p.Met209fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Phe283Val Single submitter neuronal ceroid lipofuscinosis
  • p.Ser462fs Single submitter late infantile neuronal ceroid lipofuscinosis
  • p.Ser84fs Single submitter neuronal ceroid lipofuscinosis 7
  • p.Thr166fs Single submitter MFSD8-related disorders
  • p.Thr294Ile Single submitter MFSD8-related disorders
  • p.Trp23Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Trp456Ter Single submitter neuronal ceroid lipofuscinosis 7
  • p.Tyr308Cys Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Val237Gly No assertion criteria inherited retinal dystrophy

Conflicting classifications of pathogenicity 44

  • c.1103-10_1103-6del Single submitter neuronal ceroid lipofuscinosis 7
  • c.1351-1G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.63-4del Single submitter neuronal ceroid lipofuscinosis 7
  • c.863+4A>G Single submitter late infantile neuronal ceroid lipofuscinosis
  • p.Arg139Cys Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Arg139His Single submitter late infantile neuronal ceroid lipofuscinosis ⚠
  • p.Arg35Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg465Gln Single submitter MFSD8-related disorders ⚠
  • p.Arg465Trp Single submitter late infantile neuronal ceroid lipofuscinosis ⚠
  • p.Arg482Pro Single submitter cone-rod dystrophy ⚠
  • p.Arg5= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Cys119= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln10Arg Single submitter Inborn genetic diseases ⚠
  • p.Gln474Ter Single submitter late infantile neuronal ceroid lipofuscinosis
  • p.Glu22= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Glu336Gln Single submitter MFSD8-related disorders ⚠
  • p.Gly183Cys Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Gly197Asp Single submitter Inborn genetic diseases ⚠
  • p.Gly429= Single submitter Inborn genetic diseases
  • p.Gly480Val Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Gly490= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly52Arg Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Gly77= Single submitter
  • p.Ile226Thr Single submitter Inborn genetic diseases ⚠
  • p.Ile311Val Single submitter Inborn genetic diseases ⚠
  • p.Ile312Thr Single submitter Inborn genetic diseases
  • p.Ile93Val Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Leu141= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu325= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu96= Single submitter Inborn genetic diseases
  • p.Lys333= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Met470Val Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Phe219Ser Single submitter Inborn genetic diseases ⚠
  • p.Phe379Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro356Thr Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Pro69Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser460Pro Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Ser50= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Thr160Ile Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Tyr121Cys Single submitter MFSD8-related disorders ⚠
  • p.Val321Ile Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Val346Ile Single submitter Inborn genetic diseases ⚠
  • p.Val475Leu Single submitter neuronal ceroid lipofuscinosis 7 ⚠
  • p.Val51= Single submitter neuronal ceroid lipofuscinosis 7

Benign 40

Benign/Likely benign 14

  • c.1351-9C>A Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.1351-9C>T Multiple submitters macular dystrophy with central cone involvement
  • c.155-15T>C Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.199-8T>C Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.553+20C>T Multiple submitters macular dystrophy with central cone involvement
  • c.63-16del Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.864-16A>T Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.864-6del Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.864-6dup Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Glu22Asp Multiple submitters Inborn genetic diseases
  • p.Gly385Arg Multiple submitters Inborn genetic diseases
  • p.Ser437= Multiple submitters macular dystrophy with central cone involvement
  • p.Thr191= Multiple submitters Inborn genetic diseases
  • p.Val347= Multiple submitters Inborn genetic diseases

Likely benign 371

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

  • c.1102+13A>G Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.1102+14T>C Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.1102+9A>G Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.1103-18A>G Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.154+19T>C Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.155-174A>G Multiple submitters
  • c.199-11T>C Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.199-12C>A Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.439+16T>A Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.63-4C>T Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.63-8A>G Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.698+16T>C Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.755-115A>T Multiple submitters
  • c.755-4A>G Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.755-6C>T Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.999-12G>A Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.*258A>C Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ala218= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ala299= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ala320= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ala459= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ala90= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Arg505= Multiple submitters Inborn genetic diseases
  • p.Glu11= Multiple submitters Inborn genetic diseases
  • p.Gly145= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Gly326= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Gly358= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ile282= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ile345= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Leu182= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Leu26= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Leu280= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Leu440= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Leu499= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Pro18= Multiple submitters Inborn genetic diseases
  • p.Pro356= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Pro69= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ser114= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ser161= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ser34= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ser422= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Ser59= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Thr377= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Tyr410= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Val269= Multiple submitters neuronal ceroid lipofuscinosis 7
  • p.Val511= Multiple submitters neuronal ceroid lipofuscinosis 7
  • c.1102+11A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.1102+12C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.1102+18T>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.1103-10_1103-8del Single submitter neuronal ceroid lipofuscinosis 7
  • c.1103-18A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.1103-23_1103-19dup Single submitter
  • c.1103-4A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.1103-5T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.1103-9T>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.1350+14C>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.1350+15C>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.1350+16T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.1350+17G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.1350+18A>G Single submitter
  • c.1350+19C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.1350+8A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.1351-10C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.1351-11_1351-10insAT Single submitter neuronal ceroid lipofuscinosis 7
  • c.1351-3C>T Single submitter
  • c.1351-5A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.1351-6C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.1351-7C>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.1351-7C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.1351-8C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.1351-9C>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.154+11_154+13del Single submitter neuronal ceroid lipofuscinosis 7
  • c.154+115C>T Single submitter
  • c.154+11G>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.154+13A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.154+17C>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.154+17C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.154+226A>G Single submitter
  • c.154+7A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.154+8T>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-10T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-10T>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-11C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-12G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-18T>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-19C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-19del Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-20C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-217G>A Single submitter
  • c.155-34A>T Single submitter
  • c.155-8C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-8del Single submitter neuronal ceroid lipofuscinosis 7
  • c.155-9del Single submitter neuronal ceroid lipofuscinosis 7
  • c.198+14A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.198+16T>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.198+17C>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.198+18T>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.198+18T>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.198+36A>G Single submitter
  • c.198+43T>G Single submitter
  • c.198+7A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.199-12C>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.199-13C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.199-16G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.199-16G>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.199-17T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.199-5T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.199-8_199-7insGG Single submitter neuronal ceroid lipofuscinosis 7
  • c.199-8T>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.439+12T>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.439+13G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.439+15A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.439+15A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.439+17_439+18del Single submitter neuronal ceroid lipofuscinosis 7
  • c.439+17A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.439+18T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.439+20_439+23del Single submitter neuronal ceroid lipofuscinosis 7
  • c.439+251G>A Single submitter
  • c.439+9G>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.440-12C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.440-14G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.440-16G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.440-258G>A Single submitter
  • c.440-7T>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.440-9G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.553+16A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.553+16A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.553+18_553+19del Single submitter neuronal ceroid lipofuscinosis 7
  • c.554-102T>C Single submitter
  • c.554-10T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.554-4_554-3del Single submitter neuronal ceroid lipofuscinosis 7
  • c.554-4T>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.554-6A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.554-7T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.554-9C>G Single submitter
  • c.62+18G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.62+18G>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.62+8G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.63-12_63-10del Single submitter neuronal ceroid lipofuscinosis 7
  • c.63-13del Single submitter neuronal ceroid lipofuscinosis 7
  • c.63-14T>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.63-15C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.63-16T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.63-8A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.63-9T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.698+10_698+13del Single submitter neuronal ceroid lipofuscinosis 7
  • c.698+15A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.698+17G>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.698+18A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.698+7A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.699-15G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.699-17G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.699-284T>C Single submitter
  • c.699-4T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.754+11C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.754+16T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.754+181_754+186del Single submitter
  • c.754+183_754+187del Single submitter
  • c.754+183_754+188del Single submitter
  • c.754+183_754+189del Single submitter
  • c.754+183A>T Single submitter
  • c.754+183del Single submitter
  • c.754+187_754+191del Single submitter
  • c.754+197_754+200dup Single submitter
  • c.754+199_754+200del Single submitter
  • c.754+200del Single submitter
  • c.754+200dup Single submitter
  • c.755-106A>T Single submitter
  • c.755-14C>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.755-15C>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.755-15C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.755-18T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.755-7C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.863+14C>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.863+15A>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.863+15A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.863+180G>T Single submitter
  • c.863+20C>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.863+338A>G Single submitter
  • c.863+8T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.863+9T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.864-10T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.864-14T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.864-15T>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.864-17_864-15del Single submitter neuronal ceroid lipofuscinosis 7
  • c.864-19A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.864-20A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.864-45G>A Single submitter
  • c.864-4T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.864-5C>T Single submitter
  • c.998+10G>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.998+11T>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.998+17T>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.998+18G>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.998+9A>G Single submitter neuronal ceroid lipofuscinosis 7
  • c.999-10T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.999-4A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.-18C>T Single submitter
  • c.-58T>A Single submitter
  • c.-58T>C Single submitter
  • c.-68C>T Single submitter
  • c.-75-266A>G Single submitter
  • c.-76G>A Single submitter
  • c.*1280T>A Single submitter neuronal ceroid lipofuscinosis 7
  • c.*2689T>C Single submitter neuronal ceroid lipofuscinosis 7
  • c.*492A>T Single submitter neuronal ceroid lipofuscinosis 7
  • c.*675T>C Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala116= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala117= Single submitter
  • p.Ala122= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala138= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala177= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala2= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala271= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala284= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala315= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala338= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala406= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala417= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala464= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala477= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala484= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ala71= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Arg153= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Arg165= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Arg236= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Arg242= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Arg35= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Arg37= Single submitter
  • p.Arg465= Single submitter
  • p.Asn131= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asn208= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asn309= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asn6= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asp238= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asp24= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asp255= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asp296= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asp393= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asp68= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Asp72= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Cys175= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln258= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln266= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln360= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln365= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gln450= Single submitter
  • p.Glu105= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Glu250= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Glu336= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Glu396= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Glu404= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Glu518= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Glu9= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly140= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly15= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly158= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly310= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly335= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly343= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly350= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly380= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly385= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly461= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly468= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly52= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Gly86= Single submitter neuronal ceroid lipofuscinosis 7
  • p.His125= Single submitter neuronal ceroid lipofuscinosis 7
  • p.His31= Single submitter neuronal ceroid lipofuscinosis 7
  • p.His478= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile126= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile228= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile231= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile264= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile311= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile334= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile382= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile383= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile472= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile496= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Ile80= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu120= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu124= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu13= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu136= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu14= Single submitter Inborn genetic diseases
  • p.Leu142= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu178= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu193= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu220= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu227= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu232= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu307= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu313= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu340= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu344= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu354= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu4= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu409= Single submitter neuronal ceroid lipofuscinosis 7
  • p.Leu416= Single submitter neuronal ceroid lipofuscinosis 7

Uncertain significance 388

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