CTSF — 301 ClinVar variants
All ClinVar germline CTSF variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →
17 Pathogenic · 1 Pathogenic/Likely pathogenic · 18 Likely pathogenic · 15 Conflicting · 19 Benign · 9 Benign/Likely benign · 92 Likely benign · 130 Uncertain significance
Full CTSF gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 128
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CTSF p.Arg205Gln
Conflicting
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Arg205Leu
Conflicting
Single submitter
Inborn genetic diseases
-
CTSF p.Arg418His
Conflicting
Single submitter
Inborn genetic diseases
-
CTSF p.Asn367Ser
Conflicting
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Glu387Lys
Conflicting
Single submitter
neurodevelopmental disorder
-
CTSF p.Ser480Leu
Conflicting
Single submitter
neuronal ceroid lipofuscinosis
-
CTSF p.Val210Ile
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
CTSF p.Ala22Ser
Uncertain significance
Multiple submitters
neuronal ceroid lipofuscinosis 13
-
CTSF p.Arg418Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Arg421Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Asn213Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Gln30Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Gly258Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Gly415Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Leu428Pro
Uncertain significance
Multiple submitters
neuronal ceroid lipofuscinosis 13
-
CTSF p.Lys235Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Pro35Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Ser343Leu
Uncertain significance
Multiple submitters
neuronal ceroid lipofuscinosis 13
-
CTSF p.Thr251Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Tyr357His
Uncertain significance
Multiple submitters
neuronal ceroid lipofuscinosis 13
-
CTSF p.Val94Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Ala134Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ala204Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ala26Pro
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
- CTSF p.Ala27Val Uncertain significance Single submitter
-
CTSF p.Ala370Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ala46Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ala481Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ala72Val
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Arg226His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Arg413His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Arg96Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Asn158Ser
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Asn160Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Asn171Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Asn90His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Asn90Ser
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Cys472Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Cys89Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Gln177Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Glu322Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Gly350Trp
Uncertain significance
Single submitter
Developmental disorder
-
CTSF p.Gly458Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Gly57Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ile221Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ile247Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ile429Val
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Leu423Phe
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Leu97Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Lys101Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Lys188Asn Uncertain significance Single submitter
-
CTSF p.Met363Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Phe446Leu Uncertain significance Single submitter
-
CTSF p.Pro126Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Pro37Ala
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Pro399Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Pro426Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Pro92Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Pro98Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Ser237Asn Uncertain significance Single submitter
-
CTSF p.Ser319Phe
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
- CTSF p.Ser36Ala Uncertain significance Single submitter
-
CTSF p.Thr103Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Thr455Ala Uncertain significance Single submitter
-
CTSF p.Thr476Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Trp296Cys
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Trp427Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Tyr231Cys
Uncertain significance
Single submitter
CTSF-related disorder
-
CTSF p.Val286Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Val61Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 58
The independent predictors disagree with each other — read with care.
-
CTSF p.Arg121Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Arg196Gln
Uncertain significance
Multiple submitters
neuronal ceroid lipofuscinosis 13
-
CTSF p.Arg196Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Arg205Trp
Uncertain significance
Multiple submitters
neuronal ceroid lipofuscinosis 13
-
CTSF p.Arg413Cys
Uncertain significance
Multiple submitters
neuronal ceroid lipofuscinosis 13
-
CTSF p.Arg54Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Asn378Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Gly439Ser
Uncertain significance
Multiple submitters
neuronal ceroid lipofuscinosis 13
-
CTSF p.Gly470Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Leu239Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Leu7Phe
Uncertain significance
Multiple submitters
neuronal ceroid lipofuscinosis 13
-
CTSF p.Lys101Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Lys460Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Phe45Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Val402Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Val69Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CTSF p.Ala19Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ala392Val
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Ala56Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ala60Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Arg217Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Arg226Cys
Conflicting
Single submitter
Inborn genetic diseases
-
CTSF p.Arg245Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Arg245His Uncertain significance Single submitter
- CTSF p.Arg278Lys Uncertain significance Single submitter
-
CTSF p.Arg441Cys
Conflicting
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Arg44Cys
Conflicting
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Arg44His
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Arg70Cys Uncertain significance Single submitter
- CTSF p.Arg71Trp Uncertain significance Single submitter
-
CTSF p.Asn405Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Asp178Asn
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Asp330Asn
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Asp379Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Asp484His Uncertain significance Single submitter
-
CTSF p.Glu459Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Gly53Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Gly73Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ile345Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ile400Val
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Leu105Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Leu119Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Leu318Phe Uncertain significance Single submitter
-
CTSF p.Leu5Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Lys372Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Lys450Arg Uncertain significance Single submitter
-
CTSF p.Pro257Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Pro35Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Pro445Leu Uncertain significance Single submitter
-
CTSF p.Ser176Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Ser319Ala
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Thr228Arg
Conflicting
Single submitter
neuronal ceroid lipofuscinosis 13
-
CTSF p.Thr43Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Trp32Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CTSF p.Tyr464Cys
Uncertain significance
Single submitter
neuronal ceroid lipofuscinosis 13
- CTSF p.Val131Phe Uncertain significance Single submitter
-
CTSF p.Val381Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CTSF p.Val482Met Uncertain significance Single submitter
All CTSF variants
Pathogenic 17
- p.Arg217Ter Multiple submitters Inborn genetic diseases
- p.Ala282fs Single submitter neuronal ceroid lipofuscinosis 13
- p.Gln222Ter Single submitter neuronal ceroid lipofuscinosis 13
- p.Gln321Arg Single submitter neuronal ceroid lipofuscinosis 13
- p.Gln74fs Single submitter
- p.Gly73_Gln74insPro Single submitter
- p.Ile416Thr Single submitter neuronal ceroid lipofuscinosis 13
- p.Lys374fs Single submitter neuronal ceroid lipofuscinosis
- p.Met291fs Single submitter neuronal ceroid lipofuscinosis 13
- p.Pro126fs Single submitter neuronal ceroid lipofuscinosis 13
- p.Ser139Ter Single submitter neuronal ceroid lipofuscinosis 13
- p.Thr197_Tyr198insTer Single submitter neuronal ceroid lipofuscinosis
- p.Tyr198Ter Single submitter neuronal ceroid lipofuscinosis 13
- p.Val110fs Single submitter neuronal ceroid lipofuscinosis 13
- c.213+1G>C No assertion criteria neuronal ceroid lipofuscinosis 13
- p.Gly458Ala No assertion criteria neuronal ceroid lipofuscinosis 13
- p.Ser319fs No assertion criteria neuronal ceroid lipofuscinosis 13
Pathogenic/Likely pathogenic 1
- p.Lys331fs Multiple submitters neuronal ceroid lipofuscinosis
Likely pathogenic 18
- c.1045+1G>T Multiple submitters Inborn genetic diseases
- c.1165+2T>G Single submitter neuronal ceroid lipofuscinosis 13
- c.1381-2A>G Single submitter
- c.213+2T>A Single submitter neuronal ceroid lipofuscinosis 13
- c.530_531+11del Single submitter neuronal ceroid lipofuscinosis 13
- c.965-1G>A Single submitter neuronal ceroid lipofuscinosis 13
- p.Ala56fs Single submitter neuronal ceroid lipofuscinosis
- p.Arg44fs Single submitter neuronal ceroid lipofuscinosis
- p.Cys424Ter Single submitter
- p.Cys89fs Single submitter neuronal ceroid lipofuscinosis
- p.Gln312Ter Single submitter neuronal ceroid lipofuscinosis 13
- p.Glu202fs Single submitter neurodevelopmental disorder
- p.Gly439fs Single submitter neuronal ceroid lipofuscinosis 13
- p.Leu324Ser Single submitter neuronal ceroid lipofuscinosis 13
- p.Ser36fs Single submitter neuronal ceroid lipofuscinosis
- p.Trp296Ter Single submitter
- p.Trp427fs Single submitter neuronal ceroid lipofuscinosis 13
- p.Tyr231Ter Single submitter CTSF-related disorder
Conflicting classifications of pathogenicity 15
- c.1046-2A>C Single submitter Inborn genetic diseases
- p.Ala391fs Single submitter neuronal ceroid lipofuscinosis 13
- p.Arg205Gln Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Arg205Leu Single submitter Inborn genetic diseases ⚠
- p.Arg226Cys Single submitter Inborn genetic diseases ⚠
- p.Arg418His Single submitter Inborn genetic diseases ⚠
- p.Arg441Cys Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Arg44Cys Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Arg54= Single submitter neuronal ceroid lipofuscinosis 13
- p.Asn367Ser Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Glu387Lys Single submitter neurodevelopmental disorder ⚠
- p.Gly67_Arg68dup Single submitter Inborn genetic diseases
- p.Ser480Leu Single submitter neuronal ceroid lipofuscinosis ⚠
- p.Thr228Arg Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Val210Ile Single submitter Inborn genetic diseases ⚠
Benign 19
- c.1045+70G>T Multiple submitters
- c.312+147A>G Multiple submitters
- c.722-5C>T Multiple submitters Inborn genetic diseases
- c.*235G>A Multiple submitters
- p.Ala140Thr Multiple submitters Inborn genetic diseases
- p.Arg254= Multiple submitters Inborn genetic diseases
- p.Arg467= Multiple submitters Inborn genetic diseases
- p.Gly73= Multiple submitters Inborn genetic diseases
- p.Pro42= Multiple submitters Inborn genetic diseases
- c.1046-275G>C Single submitter
- c.312+40G>C Single submitter
- c.313-140C>T Single submitter
- c.531+27_531+42del Single submitter
- c.607+161C>T Single submitter
- c.608-116T>C Single submitter
- c.608-337dup Single submitter
- c.965-13T>C Single submitter neuronal ceroid lipofuscinosis 13
- c.-103C>T Single submitter
- p.Pro15= Single submitter neuronal ceroid lipofuscinosis 13
Benign/Likely benign 9
- c.1231-13T>C Multiple submitters neuronal ceroid lipofuscinosis 13
- c.1322-19G>A Multiple submitters neuronal ceroid lipofuscinosis 13
- p.Arg421Trp Multiple submitters Inborn genetic diseases
- p.Asn386= Multiple submitters Inborn genetic diseases
- p.Asp456= Multiple submitters Inborn genetic diseases
- p.Gln153Arg Multiple submitters Inborn genetic diseases
- p.Glu199= Multiple submitters Inborn genetic diseases
- p.Gly313= Multiple submitters Inborn genetic diseases
- p.Ser469= Multiple submitters Inborn genetic diseases
Likely benign 92
- c.1046-10C>T Multiple submitters neuronal ceroid lipofuscinosis 13
- c.1166-10C>T Multiple submitters neuronal ceroid lipofuscinosis 13
- c.1322-105T>G Multiple submitters
- c.214-6C>T Multiple submitters neuronal ceroid lipofuscinosis 13
- c.722-4G>A Multiple submitters neuronal ceroid lipofuscinosis 13
- c.868-17C>G Multiple submitters neuronal ceroid lipofuscinosis 13
- c.868-4G>A Multiple submitters neuronal ceroid lipofuscinosis 13
- p.Ala82= Multiple submitters Inborn genetic diseases
- p.Arg59= Multiple submitters Inborn genetic diseases
- p.Asp443= Multiple submitters neuronal ceroid lipofuscinosis 13
- p.Cys106= Multiple submitters Inborn genetic diseases
- p.Gly57= Multiple submitters Inborn genetic diseases
- p.Leu270= Multiple submitters neuronal ceroid lipofuscinosis 13
- p.Leu324= Multiple submitters Inborn genetic diseases
- p.Lys260= Multiple submitters Inborn genetic diseases
- p.Ser209= Multiple submitters
- p.Ser380= Multiple submitters neuronal ceroid lipofuscinosis 13
- p.Ser401= Multiple submitters neuronal ceroid lipofuscinosis 13
- p.Tyr342= Multiple submitters Inborn genetic diseases
- c.1045+286A>G Single submitter
- c.1165+8_1165+9del Single submitter neuronal ceroid lipofuscinosis 13
- c.1166-7A>G Single submitter neuronal ceroid lipofuscinosis 13
- c.1230+14C>T Single submitter neuronal ceroid lipofuscinosis 13
- c.1231-13_1231-11del Single submitter neuronal ceroid lipofuscinosis 13
- c.1231-15C>T Single submitter neuronal ceroid lipofuscinosis 13
- c.1231-16C>T Single submitter neuronal ceroid lipofuscinosis 13
- c.1231-27G>A Single submitter
- c.1321+9C>T Single submitter neuronal ceroid lipofuscinosis 13
- c.1322-14G>A Single submitter neuronal ceroid lipofuscinosis 13
- c.1322-19G>C Single submitter neuronal ceroid lipofuscinosis 13
- c.1322-20C>G Single submitter neuronal ceroid lipofuscinosis 13
- c.1322-49G>T Single submitter
- c.1322-95T>C Single submitter
- c.1380+13G>A Single submitter neuronal ceroid lipofuscinosis 13
- c.1380+14G>T Single submitter neuronal ceroid lipofuscinosis 13
- c.1380+19del Single submitter neuronal ceroid lipofuscinosis 13
- c.213+10C>T Single submitter neuronal ceroid lipofuscinosis 13
- c.213+20G>A Single submitter neuronal ceroid lipofuscinosis 13
- c.213+7A>T Single submitter neuronal ceroid lipofuscinosis 13
- c.213+9G>A Single submitter neuronal ceroid lipofuscinosis 13
- c.213+9G>T Single submitter neuronal ceroid lipofuscinosis 13
- c.312+148G>C Single submitter
- c.312+28C>T Single submitter
- c.313-13C>T Single submitter
- c.531+10C>T Single submitter
- c.531+15G>C Single submitter neuronal ceroid lipofuscinosis 13
- c.608-11T>G Single submitter neuronal ceroid lipofuscinosis 13
- c.608-324del Single submitter
- c.608-61A>G Single submitter
- c.721+12G>A Single submitter neuronal ceroid lipofuscinosis 13
- c.722-38_722-37del Single submitter
- c.722-44T>C Single submitter
- c.867+16dup Single submitter neuronal ceroid lipofuscinosis 13
- c.867+7C>A Single submitter neuronal ceroid lipofuscinosis 13
- c.867+8C>T Single submitter neuronal ceroid lipofuscinosis 13
- c.868-7C>T Single submitter neuronal ceroid lipofuscinosis 13
- c.964+11C>G Single submitter neuronal ceroid lipofuscinosis 13
- c.964+9C>T Single submitter neuronal ceroid lipofuscinosis 13
- c.*216_*218del Single submitter
- p.Ala140= Single submitter
- p.Ala19= Single submitter neuronal ceroid lipofuscinosis 13
- p.Ala27= Single submitter
- p.Ala344= Single submitter Inborn genetic diseases
- p.Ala406= Single submitter neuronal ceroid lipofuscinosis 13
- p.Ala41Gly Single submitter Inborn genetic diseases
- p.Ala432= Single submitter neuronal ceroid lipofuscinosis 13
- p.Arg421= Single submitter Inborn genetic diseases
- p.Asn311= Single submitter neuronal ceroid lipofuscinosis 13
- p.Glu86= Single submitter neuronal ceroid lipofuscinosis 13
- p.His117= Single submitter neuronal ceroid lipofuscinosis 13
- p.His414= Single submitter
- p.Leu114= Single submitter neuronal ceroid lipofuscinosis 13
- p.Leu14= Single submitter neuronal ceroid lipofuscinosis 13
- p.Leu175= Single submitter neuronal ceroid lipofuscinosis 13
- p.Leu351= Single submitter neuronal ceroid lipofuscinosis 13
- p.Leu394= Single submitter
- p.Leu5= Single submitter neuronal ceroid lipofuscinosis 13
- p.Leu62= Single submitter neuronal ceroid lipofuscinosis 13
- p.Lys130= Single submitter neuronal ceroid lipofuscinosis 13
- p.Lys255= Single submitter neuronal ceroid lipofuscinosis 13
- p.Lys396= Single submitter neuronal ceroid lipofuscinosis 13
- p.Pro87= Single submitter neuronal ceroid lipofuscinosis 13
- p.Ser150= Single submitter neuronal ceroid lipofuscinosis 13
- p.Ser28Arg Single submitter Inborn genetic diseases
- p.Thr162= Single submitter neuronal ceroid lipofuscinosis 13
- p.Thr353= Single submitter
- p.Tyr438= Single submitter neuronal ceroid lipofuscinosis 13
- p.Val127= Single submitter neuronal ceroid lipofuscinosis 13
- p.Val166= Single submitter
- p.Val18Ala Single submitter Inborn genetic diseases
- p.Val381= Single submitter neuronal ceroid lipofuscinosis 13
- p.Val444Ile Single submitter Inborn genetic diseases
Uncertain significance 130
- p.Ala22Ser Multiple submitters neuronal ceroid lipofuscinosis 13 ⚠
- p.Arg121Pro Multiple submitters Inborn genetic diseases ⚠
- p.Arg196Gln Multiple submitters neuronal ceroid lipofuscinosis 13 ⚠
- p.Arg196Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg205Trp Multiple submitters neuronal ceroid lipofuscinosis 13 ⚠
- p.Arg413Cys Multiple submitters neuronal ceroid lipofuscinosis 13 ⚠
- p.Arg418Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg421Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg54Gly Multiple submitters Inborn genetic diseases ⚠
- p.Asn213Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn378Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln30Leu Multiple submitters Inborn genetic diseases ⚠
- p.Gly258Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly415Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly439Ser Multiple submitters neuronal ceroid lipofuscinosis 13 ⚠
- p.Gly470Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu239Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu428Pro Multiple submitters neuronal ceroid lipofuscinosis 13 ⚠
- p.Leu7Phe Multiple submitters neuronal ceroid lipofuscinosis 13 ⚠
- p.Lys101Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys235Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys460Met Multiple submitters Inborn genetic diseases ⚠
- p.Phe45Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro35Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ser343Leu Multiple submitters neuronal ceroid lipofuscinosis 13 ⚠
- p.Thr251Ile Multiple submitters Inborn genetic diseases ⚠
- p.Tyr357His Multiple submitters neuronal ceroid lipofuscinosis 13 ⚠
- p.Val402Met Multiple submitters Inborn genetic diseases ⚠
- p.Val69Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val94Met Multiple submitters Inborn genetic diseases ⚠
- c.1045+4T>G Single submitter neuronal ceroid lipofuscinosis 13
- c.1045+5G>T Single submitter
- c.1322-5C>A Single submitter
- c.531+3G>C Single submitter
- c.721+6G>T Single submitter neuronal ceroid lipofuscinosis 13
- c.722-3C>A Single submitter neuronal ceroid lipofuscinosis 13
- c.868-34C>T Single submitter neuronal ceroid lipofuscinosis 13
- p.Ala134Pro Single submitter Inborn genetic diseases ⚠
- p.Ala19Val Single submitter Inborn genetic diseases ⚠
- p.Ala204Val Single submitter Inborn genetic diseases ⚠
- p.Ala26Pro Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Ala27Val Single submitter ⚠
- p.Ala370Gly Single submitter Inborn genetic diseases ⚠
- p.Ala392Val Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Ala46Pro Single submitter Inborn genetic diseases ⚠
- p.Ala481Val Single submitter Inborn genetic diseases ⚠
- p.Ala56Val Single submitter Inborn genetic diseases ⚠
- p.Ala60Val Single submitter Inborn genetic diseases ⚠
- p.Ala72Val Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Ala82_Glu85del Single submitter neuronal ceroid lipofuscinosis 13
- p.Arg217Gln Single submitter Inborn genetic diseases ⚠
- p.Arg226His Single submitter Inborn genetic diseases ⚠
- p.Arg245Cys Single submitter Inborn genetic diseases ⚠
- p.Arg245His Single submitter ⚠
- p.Arg278Lys Single submitter ⚠
- p.Arg413His Single submitter Inborn genetic diseases ⚠
- p.Arg44His Single submitter Inborn genetic diseases ⚠
- p.Arg467Cys Single submitter Inborn genetic diseases
- p.Arg70Cys Single submitter ⚠
- p.Arg71Trp Single submitter ⚠
- p.Arg96Leu Single submitter Inborn genetic diseases ⚠
- p.Asn158Ser Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Asn160Asp Single submitter Inborn genetic diseases ⚠
- p.Asn171Lys Single submitter Inborn genetic diseases ⚠
- p.Asn405Ser Single submitter Inborn genetic diseases ⚠
- p.Asn451fs Single submitter neuronal ceroid lipofuscinosis 13
- p.Asn90His Single submitter Inborn genetic diseases ⚠
- p.Asn90Ser Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Asp178Asn Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Asp330Asn Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Asp379Glu Single submitter Inborn genetic diseases ⚠
- p.Asp484His Single submitter ⚠
- p.Cys472Ser Single submitter Inborn genetic diseases ⚠
- p.Cys89Arg Single submitter Inborn genetic diseases ⚠
- p.Gln177Lys Single submitter Inborn genetic diseases ⚠
- p.Glu322Gly Single submitter Inborn genetic diseases ⚠
- p.Glu459Lys Single submitter Inborn genetic diseases ⚠
- p.Gly350Trp Single submitter Developmental disorder ⚠
- p.Gly458Asp Single submitter Inborn genetic diseases ⚠
- p.Gly53Cys Single submitter Inborn genetic diseases ⚠
- p.Gly57Arg Single submitter Inborn genetic diseases ⚠
- p.Gly73Ser Single submitter Inborn genetic diseases ⚠
- p.Ile221Met Single submitter Inborn genetic diseases ⚠
- p.Ile247Val Single submitter Inborn genetic diseases ⚠
- p.Ile345Leu Single submitter Inborn genetic diseases ⚠
- p.Ile400Val Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Ile429Val Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Leu105Val Single submitter Inborn genetic diseases ⚠
- p.Leu119Pro Single submitter Inborn genetic diseases ⚠
- p.Leu318Phe Single submitter ⚠
- p.Leu423Phe Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Leu5Pro Single submitter Inborn genetic diseases ⚠
- p.Leu97Phe Single submitter Inborn genetic diseases ⚠
- p.Lys101Thr Single submitter Inborn genetic diseases ⚠
- p.Lys188Asn Single submitter ⚠
- p.Lys372Asn Single submitter Inborn genetic diseases ⚠
- p.Lys450Arg Single submitter ⚠
- p.Met363Val Single submitter Inborn genetic diseases ⚠
- p.Phe446Leu Single submitter ⚠
- p.Pro126Leu Single submitter Inborn genetic diseases ⚠
- p.Pro257Leu Single submitter Inborn genetic diseases ⚠
- p.Pro35Gln Single submitter Inborn genetic diseases ⚠
- p.Pro37Ala Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Pro399Ala Single submitter Inborn genetic diseases ⚠
- p.Pro426Ser Single submitter Inborn genetic diseases ⚠
- p.Pro445Leu Single submitter ⚠
- p.Pro92Thr Single submitter Inborn genetic diseases ⚠
- p.Pro98Leu Single submitter Inborn genetic diseases ⚠
- p.Ser176Tyr Single submitter Inborn genetic diseases ⚠
- p.Ser237Asn Single submitter ⚠
- p.Ser319Ala Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Ser319Phe Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Ser36Ala Single submitter ⚠
- p.Thr103Ile Single submitter Inborn genetic diseases ⚠
- p.Thr43Ile Single submitter Inborn genetic diseases ⚠
- p.Thr455Ala Single submitter ⚠
- p.Thr476Ser Single submitter Inborn genetic diseases ⚠
- p.Trp296Cys Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Trp32Cys Single submitter Inborn genetic diseases ⚠
- p.Trp32Ter Single submitter neuronal ceroid lipofuscinosis 13
- p.Trp427Arg Single submitter Inborn genetic diseases ⚠
- p.Trp453Ter Single submitter
- p.Trp457Ter Single submitter
- p.Tyr231Cys Single submitter CTSF-related disorder ⚠
- p.Tyr464Cys Single submitter neuronal ceroid lipofuscinosis 13 ⚠
- p.Val131Phe Single submitter ⚠
- p.Val286Leu Single submitter Inborn genetic diseases ⚠
- p.Val381Met Single submitter Inborn genetic diseases ⚠
- p.Val482Met Single submitter ⚠
- p.Val61Ala Single submitter Inborn genetic diseases ⚠