VRK1 — 576 ClinVar variants
All ClinVar germline VRK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 159 flagged for review →
34 Pathogenic · 19 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 15 Conflicting · 34 Benign · 2 Benign/Likely benign · 258 Likely benign · 179 Uncertain significance
Full VRK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 159
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.
-
VRK1 p.Arg321Cys
Pathogenic/Likely pathogenic
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg387His
Pathogenic/Likely pathogenic
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Asp263Gly
Pathogenic/Likely pathogenic
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.His119Arg
Pathogenic/Likely pathogenic
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ala66Gly
Likely pathogenic
No assertion criteria
distal hereditary motor neuropathy
Predictors agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
VRK1 p.Arg89Gln
Conflicting
Single submitter
Inborn genetic diseases
-
VRK1 p.Asn294Lys
Conflicting
Single submitter
Inborn genetic diseases
-
VRK1 p.Met286Ile
Conflicting
Single submitter
Inborn genetic diseases
-
VRK1 p.Ser59Ala
Conflicting
Single submitter
Inborn genetic diseases
-
VRK1 p.Trp254Leu
Conflicting
No assertion criteria
Distal hereditary motor neuropathy associated with upper motor neuron signs
Predictors lean, ClinVar uncertain 119
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
VRK1 p.Arg101His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Arg151Gln
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg241Cys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg389Lys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Asn234Ser
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 10
-
VRK1 p.Asp191Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Asp287Gly
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Gln156Lys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Gln45Lys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Glu245Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Gly10Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Gly176Arg
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Gly257Ser
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.His171Arg
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 10
-
VRK1 p.His258Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Ile130Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Ile282Thr
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ile384Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Ile43Val
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ile51Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Leu184His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Leu195Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Leu341Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Lys121Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Lys147Arg
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys269Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Lys301Glu
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys338Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Lys366Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Pro79Leu
Uncertain significance
Multiple submitters
neuronopathy, distal hereditary motor, autosomal recessive 10
-
VRK1 p.Ser59Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Thr256Ile
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Thr373Met
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Val196Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Val394Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Val62Ile
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ala232Ser
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ala351Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Ala383Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Ala7Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Ala9Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg103His
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg127Trp
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg133Gly
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
- VRK1 p.Arg133Ser Uncertain significance Single submitter
- VRK1 p.Arg241His Uncertain significance Single submitter
-
VRK1 p.Arg277Lys
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1
-
VRK1 p.Arg279Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Arg358Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Arg391Gly
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg391Thr
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg3His
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Asn182His
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Asp222Gly
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 10
-
VRK1 p.Asp231Gly
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Asp335Gly
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Asp335Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Asp55Gly
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Cys68Tyr
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Gln192Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Gln192Lys
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 10
-
VRK1 p.Gln22Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Gln22Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Gln45Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Gln95Pro
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Gln97His
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Glu345Asp
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Glu367Gln
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Glu83Gly
Uncertain significance
Single submitter
neuronopathy, distal hereditary motor, autosomal recessive 10
-
VRK1 p.Glu83Lys
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Gly223Asp
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Gly223Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Gly235Asp
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1
-
VRK1 p.Gly369Ala
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ile178Thr
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ile225Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ile28Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ile323Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Leu108Pro
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Leu165Pro
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1
-
VRK1 p.Leu184Phe
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Leu195Phe
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
- VRK1 p.Leu247Arg Uncertain significance Single submitter
-
VRK1 p.Leu247Pro
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Leu324Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Leu80Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys147Glu
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys179Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys288Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys295Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys329Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Lys334Glu
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys356Glu
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys392Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys92Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Pro190Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Pro315Leu
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Pro368Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Pro42Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Pro67Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Pro74Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
- VRK1 p.Pro74His Uncertain significance Single submitter
-
VRK1 p.Ser125Gly
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ser229Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Ser333Asn
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
- VRK1 p.Ser342Cys Uncertain significance Single submitter
-
VRK1 p.Thr373Ala
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Thr373Pro
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Trp114Gly
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Trp375Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Trp37Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Tyr187Cys
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Asn281Asp
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 1
-
VRK1 p.Asn57Ser
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 1A
-
VRK1 p.Asp372Gly
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 1A
-
VRK1 p.Glu381Gly
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 1
-
VRK1 p.Pro217Leu
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 1A
-
VRK1 p.Ser181Ala
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 1A
-
VRK1 p.Thr355Arg
Uncertain significance
No assertion criteria
pontocerebellar hypoplasia type 1
Predictors split 30
The independent predictors disagree with each other — read with care.
-
VRK1 p.Ala66Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Arg103Cys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg203Trp
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg321His
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg387Cys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg3Cys
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Asn77Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Asp273His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
VRK1 p.Lys140Glu
Uncertain significance
Multiple submitters
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg101Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- VRK1 p.Arg151Gly Uncertain significance Single submitter
-
VRK1 p.Arg203Gln
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Arg219Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Asp137Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Asp222His
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
- VRK1 p.Cys205Tyr Uncertain significance Single submitter
-
VRK1 p.Cys250Trp
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Gln253Arg
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Glu215Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Leu309Val
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys16Glu
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Lys357Met
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1
- VRK1 p.Pro206Ala Uncertain significance Single submitter
-
VRK1 p.Pro206Gln
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Pro206Ser
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Pro74Ala
Uncertain significance
Single submitter
pontocerebellar hypoplasia type 1A
-
VRK1 p.Tyr142His
Uncertain significance
Single submitter
Inborn genetic diseases
-
VRK1 p.Tyr213His
Conflicting
Single submitter
microcephaly-complex motor and sensory axonal neuropathy syndrome
-
VRK1 p.Val236Met
Conflicting
Single submitter
Inborn genetic diseases
-
VRK1 p.Arg219Ile
Conflicting
No assertion criteria
Distal hereditary motor neuropathy associated with upper motor neuron signs
All VRK1 variants
Pathogenic 34
- p.Arg358Ter Multiple submitters pontocerebellar hypoplasia type 1A
- p.Gln326Ter Multiple submitters pontocerebellar hypoplasia type 1A
- p.Glu60fs Multiple submitters pontocerebellar hypoplasia type 1A
- p.Leu155Ter Multiple submitters Inborn genetic diseases
- c.1159+1G>T Single submitter pontocerebellar hypoplasia type 1A
- c.160+1del Single submitter pontocerebellar hypoplasia type 1A
- p.Ala54fs Single submitter pontocerebellar hypoplasia type 1A
- p.Arg11Ter Single submitter pontocerebellar hypoplasia type 1A
- p.Arg3_Val4insTer Single submitter pontocerebellar hypoplasia type 1A
- p.Asn294fs Single submitter pontocerebellar hypoplasia type 1A
- p.Gln12fs Single submitter pontocerebellar hypoplasia type 1A
- p.Gln8Ter Single submitter pontocerebellar hypoplasia type 1A
- p.Glu245Ter Single submitter pontocerebellar hypoplasia type 1A
- p.Glu318fs Single submitter pontocerebellar hypoplasia type 1A
- p.Glu94fs Single submitter pontocerebellar hypoplasia type 1A
- p.Ile130fs Single submitter pontocerebellar hypoplasia type 1A
- p.Ile299fs Single submitter pontocerebellar hypoplasia type 1A
- p.Ile384fs Single submitter pontocerebellar hypoplasia type 1A
- p.Lys211fs Single submitter pontocerebellar hypoplasia type 1A
- p.Lys218Ter Single submitter pontocerebellar hypoplasia type 1A
- p.Lys35fs Single submitter pontocerebellar hypoplasia type 1A
- p.Lys366fs Single submitter pontocerebellar hypoplasia type 1A
- p.Pro260fs Single submitter pontocerebellar hypoplasia type 1A
- p.Ser181_Asn182insArgGlyGlySerArgLeuTer Single submitter pontocerebellar hypoplasia type 1A
- p.Ser181Ter Single submitter pontocerebellar hypoplasia type 1A
- p.Ser284_Leu285insTer Single submitter pontocerebellar hypoplasia type 1A
- p.Thr305fs Single submitter pontocerebellar hypoplasia type 1A
- p.Thr355fs Single submitter pontocerebellar hypoplasia type 1A
- p.Thr378fs Single submitter pontocerebellar hypoplasia type 1A
- p.Trp261Ter Single submitter pontocerebellar hypoplasia type 1A
- p.Trp37Ter Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr113Ter Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr167fs Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr52Ter Single submitter pontocerebellar hypoplasia type 1A
Pathogenic/Likely pathogenic 19
- c.1159+1G>A Multiple submitters pontocerebellar hypoplasia type 1A
- p.Arg321Cys Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Arg387His Multiple submitters Inborn genetic diseases ⚠
- p.Arg89Ter Multiple submitters pontocerebellar hypoplasia type 1A
- p.Asp263Gly Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Cys220Ter Multiple submitters pontocerebellar hypoplasia type 1A
- p.Gln379fs Multiple submitters spinal muscular atrophy
- p.Glu361fs Multiple submitters pontocerebellar hypoplasia type 1A
- p.Glu382fs Multiple submitters pontocerebellar hypoplasia type 1A
- p.His119Arg Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Ile168fs Multiple submitters pontocerebellar hypoplasia type 1A
- p.Lys121fs Multiple submitters pontocerebellar hypoplasia type 1A
- p.Lys295fs Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 10
- p.Lys356Ter Multiple submitters pontocerebellar hypoplasia type 1A
- p.Ser116fs Multiple submitters pontocerebellar hypoplasia
- p.Ser376Ter Multiple submitters pontocerebellar hypoplasia type 1A
- p.Ser75fs Multiple submitters pontocerebellar hypoplasia type 1A
- p.Trp375Ter Multiple submitters pontocerebellar hypoplasia type 1A
- p.Tyr270Ter Multiple submitters pontocerebellar hypoplasia type 1A
Likely pathogenic 35
- c.216+1G>C Multiple submitters Inborn genetic diseases
- c.483+1G>A Multiple submitters pontocerebellar hypoplasia type 1A
- c.889+1G>T Multiple submitters Inborn genetic diseases
- p.Pro2fs Multiple submitters pontocerebellar hypoplasia type 1A
- p.Ser365fs Multiple submitters pontocerebellar hypoplasia type 1A
- c.1068+1G>A Single submitter pontocerebellar hypoplasia type 1A
- c.1069-2A>G Single submitter pontocerebellar hypoplasia type 1A
- c.156_160+3del Single submitter pontocerebellar hypoplasia type 1B
- c.160+1G>T Single submitter pontocerebellar hypoplasia type 1A
- c.161-2A>G Single submitter pontocerebellar hypoplasia type 1A
- c.216+1G>A Single submitter pontocerebellar hypoplasia type 1A
- c.286+2T>G Single submitter pontocerebellar hypoplasia type 1A
- c.287-2A>C Single submitter pontocerebellar hypoplasia type 1A
- c.287-2A>G Single submitter pontocerebellar hypoplasia type 1A
- c.318_889+1945del Single submitter pontocerebellar hypoplasia type 1
- c.374+1G>T Single submitter pontocerebellar hypoplasia type 1A
- c.402_890-895del Single submitter pontocerebellar hypoplasia type 1
- c.483+1G>T Single submitter pontocerebellar hypoplasia type 1A
- c.576+1G>A Single submitter pontocerebellar hypoplasia type 1A
- c.710-1G>A Single submitter pontocerebellar hypoplasia type 1A
- c.830+1G>C Single submitter pontocerebellar hypoplasia type 1A
- c.889+1G>A Single submitter pontocerebellar hypoplasia type 1A
- p.Arg3fs Single submitter pontocerebellar hypoplasia type 1A
- p.Arg89Pro Single submitter
- p.Asn145fs Single submitter pontocerebellar hypoplasia type 1A
- p.Cys289fs Single submitter neuronopathy, distal hereditary motor, autosomal recessive 10
- p.Gln192Ter Single submitter pontocerebellar hypoplasia type 1A
- p.Glu371fs Single submitter pontocerebellar hypoplasia type 1A
- p.Glu83fs Single submitter pontocerebellar hypoplasia type 1A
- p.Leu159Ter Single submitter pontocerebellar hypoplasia type 1A
- p.Phe81fs Single submitter pontocerebellar hypoplasia type 1A
- p.Thr380fs Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr173fs Single submitter pontocerebellar hypoplasia type 1A
- p.Ala66Gly No assertion criteria distal hereditary motor neuropathy ⚠
- p.Val271Ala No assertion criteria pontocerebellar hypoplasia type 1A
Conflicting classifications of pathogenicity 15
- c.1069-9A>G Single submitter pontocerebellar hypoplasia type 1A
- c.161-14A>G Single submitter pontocerebellar hypoplasia type 1A
- p.Arg133Cys Single submitter pontocerebellar hypoplasia type 1A
- p.Arg89Gln Single submitter Inborn genetic diseases ⚠
- p.Asn294Lys Single submitter Inborn genetic diseases ⚠
- p.Asp340= Single submitter Inborn genetic diseases
- p.Ile276= Single submitter pontocerebellar hypoplasia type 1A
- p.Met286Ile Single submitter Inborn genetic diseases ⚠
- p.Ser59Ala Single submitter Inborn genetic diseases ⚠
- p.Thr228Met Single submitter hereditary breast ovarian cancer syndrome
- p.Thr353del Single submitter Inborn genetic diseases
- p.Tyr213His Single submitter microcephaly-complex motor and sensory axonal neuropathy syndrome ⚠
- p.Val236Met Single submitter Inborn genetic diseases ⚠
- p.Arg219Ile No assertion criteria Distal hereditary motor neuropathy associated with upper motor neuron signs ⚠
- p.Trp254Leu No assertion criteria Distal hereditary motor neuropathy associated with upper motor neuron signs ⚠
Benign 34
- c.1068+110G>A Multiple submitters
- c.1159+43C>G Multiple submitters pontocerebellar hypoplasia type 1A
- c.161-74A>T Multiple submitters
- c.217-244T>C Multiple submitters pontocerebellar hypoplasia type 1A
- c.286+141G>A Multiple submitters
- c.375-8G>C Multiple submitters pontocerebellar hypoplasia type 1A
- p.Ala15= Multiple submitters isolated microphthalmia 2
- p.Gly235= Multiple submitters pontocerebellar hypoplasia type 1A
- c.1068+27_1068+28dup Single submitter
- c.1069-236del Single submitter
- c.1160-8del Single submitter pontocerebellar hypoplasia type 1A
- c.160+297G>A Single submitter
- c.161-145A>G Single submitter
- c.161-220A>G Single submitter
- c.161-283C>T Single submitter
- c.161-7dup Single submitter pontocerebellar hypoplasia type 1A
- c.216+299T>C Single submitter
- c.287-192G>T Single submitter
- c.374+7dup Single submitter pontocerebellar hypoplasia type 1A
- c.374+90dup Single submitter
- c.375-14A>G Single submitter pontocerebellar hypoplasia type 1A
- c.483+20_483+22del Single submitter pontocerebellar hypoplasia type 1A
- c.709+143G>A Single submitter
- c.709+75G>A Single submitter
- c.709+76C>T Single submitter
- c.710-13C>T Single submitter pontocerebellar hypoplasia type 1A
- c.710-331G>A Single submitter
- c.831-6dup Single submitter pontocerebellar hypoplasia type 1A
- c.889+163A>T Single submitter
- c.889+261G>T Single submitter
- c.889+306C>T Single submitter
- c.-5-213G>A Single submitter
- c.-6+145T>C Single submitter
- c.-6+91C>T Single submitter
Benign/Likely benign 2
- c.286+12A>G Multiple submitters pontocerebellar hypoplasia type 1A
- c.576+8T>C Multiple submitters pontocerebellar hypoplasia type 1A
Likely benign 258
- c.1068+207A>G Multiple submitters
- c.1159+138G>A Multiple submitters
- c.287-8_287-7delinsTA Multiple submitters pontocerebellar hypoplasia type 1A
- c.576+9A>G Multiple submitters pontocerebellar hypoplasia type 1A
- c.577-19G>C Multiple submitters pontocerebellar hypoplasia type 1A
- c.831-12A>G Multiple submitters pontocerebellar hypoplasia type 1A
- c.831-18T>A Multiple submitters pontocerebellar hypoplasia type 1A
- c.889+10G>T Multiple submitters pontocerebellar hypoplasia type 1A
- p.His221= Multiple submitters pontocerebellar hypoplasia type 1A
- p.Ile282= Multiple submitters pontocerebellar hypoplasia type 1A
- p.Pro217= Multiple submitters pontocerebellar hypoplasia type 1A
- p.Ser388= Multiple submitters pontocerebellar hypoplasia type 1A
- c.1068+10G>A Single submitter pontocerebellar hypoplasia type 1A
- c.1068+17_1068+21del Single submitter pontocerebellar hypoplasia type 1A
- c.1068+19T>C Single submitter pontocerebellar hypoplasia type 1A
- c.1068+20T>C Single submitter pontocerebellar hypoplasia type 1A
- c.1068+20T>G Single submitter pontocerebellar hypoplasia type 1A
- c.1068+299C>T Single submitter
- c.1068+65_1068+66del Single submitter
- c.1068+9T>C Single submitter pontocerebellar hypoplasia type 1A
- c.1069-10T>G Single submitter pontocerebellar hypoplasia type 1A
- c.1069-12T>G Single submitter pontocerebellar hypoplasia type 1A
- c.1069-15A>C Single submitter pontocerebellar hypoplasia type 1A
- c.1069-17T>C Single submitter pontocerebellar hypoplasia type 1A
- c.1069-17T>G Single submitter pontocerebellar hypoplasia type 1A
- c.1069-19_1069-16del Single submitter pontocerebellar hypoplasia type 1A
- c.1069-287T>G Single submitter
- c.1069-32TC[8] Single submitter
- c.1069-33A>C Single submitter
- c.1069-6T>C Single submitter pontocerebellar hypoplasia type 1A
- c.1069-9A>T Single submitter pontocerebellar hypoplasia type 1A
- c.1159+10A>G Single submitter pontocerebellar hypoplasia type 1A
- c.1159+11C>T Single submitter pontocerebellar hypoplasia type 1A
- c.1159+18G>T Single submitter pontocerebellar hypoplasia type 1A
- c.1159+235C>T Single submitter
- c.1160-14G>C Single submitter pontocerebellar hypoplasia type 1A
- c.1160-4C>G Single submitter pontocerebellar hypoplasia type 1A
- c.1160-4C>T Single submitter pontocerebellar hypoplasia type 1A
- c.1160-5T>C Single submitter pontocerebellar hypoplasia type 1A
- c.1160-7C>T Single submitter pontocerebellar hypoplasia type 1A
- c.1160-7del Single submitter pontocerebellar hypoplasia type 1A
- c.160+18T>G Single submitter pontocerebellar hypoplasia type 1A
- c.161-10T>C Single submitter pontocerebellar hypoplasia type 1A
- c.161-6A>T Single submitter pontocerebellar hypoplasia type 1A
- c.216+19A>G Single submitter pontocerebellar hypoplasia type 1A
- c.216+8A>G Single submitter pontocerebellar hypoplasia type 1A
- c.216+9T>C Single submitter pontocerebellar hypoplasia type 1A
- c.217-10A>G Single submitter pontocerebellar hypoplasia type 1A
- c.217-10dup Single submitter pontocerebellar hypoplasia type 1A
- c.217-12T>C Single submitter pontocerebellar hypoplasia type 1A
- c.217-14T>C Single submitter pontocerebellar hypoplasia type 1A
- c.217-7T>C Single submitter pontocerebellar hypoplasia type 1A
- c.217-8_217-7del Single submitter pontocerebellar hypoplasia type 1A
- c.217-9del Single submitter pontocerebellar hypoplasia type 1A
- c.217-9T>C Single submitter pontocerebellar hypoplasia type 1A
- c.286+11C>A Single submitter pontocerebellar hypoplasia type 1A
- c.286+11C>T Single submitter pontocerebellar hypoplasia type 1A
- c.286+15A>G Single submitter pontocerebellar hypoplasia type 1A
- c.286+18C>T Single submitter pontocerebellar hypoplasia type 1A
- c.286+20T>C Single submitter pontocerebellar hypoplasia type 1A
- c.287-11T>C Single submitter pontocerebellar hypoplasia type 1A
- c.287-4G>A Single submitter pontocerebellar hypoplasia type 1A
- c.287-4G>T Single submitter pontocerebellar hypoplasia type 1A
- c.287-7T>C Single submitter pontocerebellar hypoplasia type 1A
- c.287-9A>C Single submitter pontocerebellar hypoplasia type 1A
- c.374+15G>C Single submitter pontocerebellar hypoplasia type 1A
- c.374+204T>C Single submitter
- c.374+7A>C Single submitter pontocerebellar hypoplasia type 1A
- c.374+7A>T Single submitter pontocerebellar hypoplasia type 1A
- c.375-10T>C Single submitter pontocerebellar hypoplasia type 1A
- c.375-12A>G Single submitter pontocerebellar hypoplasia type 1A
- c.375-19T>C Single submitter pontocerebellar hypoplasia type 1A
- c.375-4T>C Single submitter pontocerebellar hypoplasia type 1A
- c.483+10_483+23del Single submitter pontocerebellar hypoplasia type 1A
- c.483+12A>G Single submitter pontocerebellar hypoplasia type 1A
- c.483+15T>A Single submitter pontocerebellar hypoplasia type 1A
- c.483+17C>G Single submitter pontocerebellar hypoplasia type 1A
- c.483+20dup Single submitter pontocerebellar hypoplasia type 1A
- c.483+8A>G Single submitter pontocerebellar hypoplasia type 1A
- c.484-15A>T Single submitter pontocerebellar hypoplasia type 1A
- c.484-16T>C Single submitter pontocerebellar hypoplasia type 1A
- c.484-18T>C Single submitter pontocerebellar hypoplasia type 1A
- c.484-18T>G Single submitter pontocerebellar hypoplasia type 1A
- c.484-4A>G Single submitter pontocerebellar hypoplasia type 1A
- c.484-5C>T Single submitter pontocerebellar hypoplasia type 1A
- c.484-6dup Single submitter pontocerebellar hypoplasia type 1A
- c.484-6T>G Single submitter pontocerebellar hypoplasia type 1A
- c.576+11A>G Single submitter pontocerebellar hypoplasia type 1A
- c.576+18A>G Single submitter pontocerebellar hypoplasia type 1A
- c.576+4G>C Single submitter
- c.577-11del Single submitter pontocerebellar hypoplasia type 1A
- c.577-16G>C Single submitter pontocerebellar hypoplasia type 1A
- c.577-187A>T Single submitter
- c.577-18del Single submitter pontocerebellar hypoplasia type 1A
- c.577-18G>A Single submitter pontocerebellar hypoplasia type 1A
- c.577-18G>T Single submitter pontocerebellar hypoplasia type 1A
- c.577-267_577-263del Single submitter
- c.577-301C>T Single submitter
- c.577-4A>G Single submitter pontocerebellar hypoplasia type 1A
- c.577-5T>C Single submitter pontocerebellar hypoplasia type 1A
- c.709+10T>C Single submitter pontocerebellar hypoplasia type 1A
- c.709+12G>A Single submitter pontocerebellar hypoplasia type 1A
- c.709+13T>A Single submitter pontocerebellar hypoplasia type 1A
- c.709+14A>G Single submitter pontocerebellar hypoplasia type 1A
- c.709+17G>A Single submitter pontocerebellar hypoplasia type 1A
- c.709+18G>T Single submitter pontocerebellar hypoplasia type 1A
- c.709+7_709+12dup Single submitter pontocerebellar hypoplasia type 1A
- c.709+8A>G Single submitter pontocerebellar hypoplasia type 1A
- c.709+9G>A Single submitter pontocerebellar hypoplasia type 1A
- c.710-13C>G Single submitter pontocerebellar hypoplasia type 1A
- c.710-14T>C Single submitter pontocerebellar hypoplasia type 1A
- c.710-15C>G Single submitter pontocerebellar hypoplasia type 1A
- c.710-8A>G Single submitter pontocerebellar hypoplasia type 1A
- c.710-9C>A Single submitter pontocerebellar hypoplasia type 1A
- c.710-9C>T Single submitter pontocerebellar hypoplasia type 1A
- c.830+10A>G Single submitter pontocerebellar hypoplasia type 1A
- c.830+12C>T Single submitter pontocerebellar hypoplasia type 1A
- c.830+16_830+20del Single submitter pontocerebellar hypoplasia type 1A
- c.830+7G>A Single submitter pontocerebellar hypoplasia type 1A
- c.830+9A>G Single submitter pontocerebellar hypoplasia type 1A
- c.831-12A>T Single submitter pontocerebellar hypoplasia type 1A
- c.831-16C>T Single submitter pontocerebellar hypoplasia type 1A
- c.831-20C>T Single submitter pontocerebellar hypoplasia type 1A
- c.831-9T>C Single submitter pontocerebellar hypoplasia type 1A
- c.889+10G>A Single submitter pontocerebellar hypoplasia type 1A
- c.889+11A>G Single submitter pontocerebellar hypoplasia type 1A
- c.889+14T>C Single submitter pontocerebellar hypoplasia type 1A
- c.889+15C>T Single submitter pontocerebellar hypoplasia type 1A
- c.889+18C>T Single submitter pontocerebellar hypoplasia type 1A
- c.889+19A>C Single submitter pontocerebellar hypoplasia type 1A
- c.889+20G>C Single submitter pontocerebellar hypoplasia type 1A
- c.889+20G>T Single submitter pontocerebellar hypoplasia type 1A
- c.889+8A>G Single submitter pontocerebellar hypoplasia type 1A
- c.889+9T>C Single submitter pontocerebellar hypoplasia type 1A
- c.890-10A>G Single submitter pontocerebellar hypoplasia type 1A
- c.890-15G>A Single submitter pontocerebellar hypoplasia type 1A
- c.890-19G>A Single submitter pontocerebellar hypoplasia type 1A
- c.890-19G>C Single submitter pontocerebellar hypoplasia type 1A
- c.890-22_890-15del Single submitter pontocerebellar hypoplasia type 1A
- c.890-4T>C Single submitter pontocerebellar hypoplasia type 1A
- c.-5-146A>G Single submitter pontocerebellar hypoplasia type 1A
- c.-5-7G>C Single submitter
- p.Ala201= Single submitter pontocerebellar hypoplasia type 1A
- p.Ala237= Single submitter pontocerebellar hypoplasia type 1A
- p.Ala24= Single submitter pontocerebellar hypoplasia type 1A
- p.Ala33= Single submitter pontocerebellar hypoplasia type 1A
- p.Ala383= Single submitter pontocerebellar hypoplasia type 1A
- p.Ala7= Single submitter pontocerebellar hypoplasia type 1A
- p.Ala90= Single submitter pontocerebellar hypoplasia type 1A
- p.Arg127= Single submitter pontocerebellar hypoplasia type 1A
- p.Arg133= Single submitter pontocerebellar hypoplasia type 1A
- p.Arg148= Single submitter pontocerebellar hypoplasia type 1A
- p.Arg203= Single submitter pontocerebellar hypoplasia type 1A
- p.Arg279= Single submitter pontocerebellar hypoplasia type 1A
- p.Arg3= Single submitter pontocerebellar hypoplasia type 1A
- p.Arg358= Single submitter pontocerebellar hypoplasia type 1A
- p.Arg387= Single submitter pontocerebellar hypoplasia type 1A
- p.Asn122= Single submitter pontocerebellar hypoplasia type 1A
- p.Asn294= Single submitter pontocerebellar hypoplasia type 1A
- p.Asn346= Single submitter pontocerebellar hypoplasia type 1A
- p.Asp132= Single submitter pontocerebellar hypoplasia type 1A
- p.Asp197= Single submitter pontocerebellar hypoplasia type 1A
- p.Asp216= Single submitter pontocerebellar hypoplasia type 1A
- p.Asp243= Single submitter pontocerebellar hypoplasia type 1A
- p.Asp322= Single submitter pontocerebellar hypoplasia type 1A
- p.Asp335= Single submitter pontocerebellar hypoplasia type 1A
- p.Asp76= Single submitter pontocerebellar hypoplasia type 1A
- p.Cys205= Single submitter pontocerebellar hypoplasia type 1A
- p.Cys220= Single submitter pontocerebellar hypoplasia type 1A
- p.Cys50= Single submitter pontocerebellar hypoplasia type 1A
- p.Gln22= Single submitter pontocerebellar hypoplasia type 1A
- p.Gln253= Single submitter pontocerebellar hypoplasia type 1A
- p.Gln45= Single submitter pontocerebellar hypoplasia type 1A
- p.Gln88= Single submitter pontocerebellar hypoplasia type 1A
- p.Glu172= Single submitter pontocerebellar hypoplasia type 1A
- p.Glu212= Single submitter pontocerebellar hypoplasia type 1A
- p.Glu298= Single submitter pontocerebellar hypoplasia type 1A
- p.Glu361= Single submitter pontocerebellar hypoplasia type 1A
- p.Glu374= Single submitter pontocerebellar hypoplasia type 1A
- p.Glu381= Single submitter pontocerebellar hypoplasia type 1A
- p.Glu382= Single submitter pontocerebellar hypoplasia type 1A
- p.Glu73= Single submitter pontocerebellar hypoplasia type 1A
- p.Gly109= Single submitter pontocerebellar hypoplasia type 1A
- p.Gly115= Single submitter pontocerebellar hypoplasia type 1A
- p.Gly223= Single submitter pontocerebellar hypoplasia type 1A
- p.Gly242= Single submitter pontocerebellar hypoplasia type 1A
- p.Gly337= Single submitter pontocerebellar hypoplasia type 1A
- p.Gly40= Single submitter pontocerebellar hypoplasia type 1A
- p.Gly46= Single submitter pontocerebellar hypoplasia type 1A
- p.His169= Single submitter pontocerebellar hypoplasia type 1A
- p.His171= Single submitter pontocerebellar hypoplasia type 1A
- p.His233= Single submitter pontocerebellar hypoplasia type 1A
- p.Ile178= Single submitter pontocerebellar hypoplasia type 1A
- p.Ile230= Single submitter pontocerebellar hypoplasia type 1A
- p.Ile299= Single submitter pontocerebellar hypoplasia type 1A
- p.Ile323= Single submitter pontocerebellar hypoplasia type 1A
- p.Ile354Val Single submitter Inborn genetic diseases
- p.Ile362= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu118= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu157= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu159= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu165= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu183= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu185= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu19= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu200= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu316= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu324= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu328= Single submitter pontocerebellar hypoplasia type 1A
- p.Leu84= Single submitter pontocerebellar hypoplasia type 1A
- p.Lys104= Single submitter pontocerebellar hypoplasia type 1A
- p.Lys152= Single submitter pontocerebellar hypoplasia type 1A
- p.Lys179= Single submitter pontocerebellar hypoplasia type 1A
- p.Lys218= Single submitter pontocerebellar hypoplasia type 1A
- p.Lys288= Single submitter pontocerebellar hypoplasia type 1A
- p.Lys301= Single submitter pontocerebellar hypoplasia type 1A
- p.Lys35= Single submitter pontocerebellar hypoplasia type 1A
- p.Lys352= Single submitter pontocerebellar hypoplasia type 1A
- p.Lys392= Single submitter pontocerebellar hypoplasia type 1A
- p.Met56Thr Single submitter Inborn genetic diseases
- p.Phe48= Single submitter pontocerebellar hypoplasia type 1A
- p.Pro206= Single submitter pontocerebellar hypoplasia type 1A
- p.Pro260= Single submitter pontocerebellar hypoplasia type 1A
- p.Pro268= Single submitter pontocerebellar hypoplasia type 1A
- p.Pro74= Single submitter pontocerebellar hypoplasia type 1A
- p.Pro79= Single submitter pontocerebellar hypoplasia type 1A
- p.Pro93= Single submitter pontocerebellar hypoplasia type 1A
- p.Ser13= Single submitter pontocerebellar hypoplasia type 1A
- p.Ser158= Single submitter pontocerebellar hypoplasia type 1A
- p.Ser274= Single submitter pontocerebellar hypoplasia type 1A
- p.Ser61= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr102= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr153= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr224= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr228= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr256= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr305= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr353= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr355= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr373= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr378= Single submitter pontocerebellar hypoplasia type 1A
- p.Thr390= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr113= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr126= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr142= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr187= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr194= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr213= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr249= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr270= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr302= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr311= Single submitter pontocerebellar hypoplasia type 1A
- p.Tyr87= Single submitter pontocerebellar hypoplasia type 1A
- p.Val110= Single submitter pontocerebellar hypoplasia type 1A
- p.Val154= Single submitter pontocerebellar hypoplasia type 1A
- p.Val196= Single submitter pontocerebellar hypoplasia type 1A
- p.Val4= Single submitter pontocerebellar hypoplasia type 1A
- c.-5-4A>G No assertion criteria VRK1-related disorder
Uncertain significance 179
- c.1160-2A>G Multiple submitters pontocerebellar hypoplasia type 1A
- c.161-3C>T Multiple submitters Inborn genetic diseases
- p.Ala66Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg101His Multiple submitters Inborn genetic diseases ⚠
- p.Arg103Cys Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Arg133His Multiple submitters Inborn genetic diseases
- p.Arg151Gln Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Arg203Trp Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Arg241Cys Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Arg321His Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Arg387Cys Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Arg389Lys Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Arg3Cys Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Arg3Phe Multiple submitters pontocerebellar hypoplasia type 1
- p.Asn234Ser Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 10 ⚠
- p.Asn77Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asp191Asn Multiple submitters Inborn genetic diseases ⚠
- p.Asp273His Multiple submitters Inborn genetic diseases ⚠
- p.Asp287Gly Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Gln156Lys Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Gln45Lys Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Glu245Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly10Glu Multiple submitters Inborn genetic diseases ⚠
- p.Gly176Arg Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Gly257Ser Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.His171Arg Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 10 ⚠
- p.His258Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Ile130Leu Multiple submitters Inborn genetic diseases ⚠
- p.Ile282Thr Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Ile384Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile43Val Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Ile51Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu159Ser Multiple submitters pontocerebellar hypoplasia type 1A
- p.Leu184His Multiple submitters Inborn genetic diseases ⚠
- p.Leu195Val Multiple submitters Inborn genetic diseases ⚠
- p.Leu341Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys121Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys140Glu Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Lys147Arg Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Lys269Glu Multiple submitters Inborn genetic diseases ⚠
- p.Lys301Glu Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Lys338Arg Multiple submitters Inborn genetic diseases ⚠
- p.Lys366Glu Multiple submitters Inborn genetic diseases ⚠
- p.Pro79Leu Multiple submitters neuronopathy, distal hereditary motor, autosomal recessive 10 ⚠
- p.Ser59Leu Multiple submitters Inborn genetic diseases ⚠
- p.Thr256Ile Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Thr373Met Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- p.Val196Leu Multiple submitters Inborn genetic diseases ⚠
- p.Val394Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val62Ile Multiple submitters pontocerebellar hypoplasia type 1A ⚠
- c.1068+3del Single submitter pontocerebellar hypoplasia type 1A
- c.1068+3G>A Single submitter Inborn genetic diseases
- c.1159+5G>C Single submitter pontocerebellar hypoplasia type 1A
- c.217-3A>G Single submitter pontocerebellar hypoplasia type 1A
- c.374+11G>A Single submitter pontocerebellar hypoplasia type 1A
- c.831-4A>G Single submitter pontocerebellar hypoplasia type 1A
- c.889+4G>C Single submitter pontocerebellar hypoplasia type 1A
- c.*104A>G Single submitter pontocerebellar hypoplasia type 1A
- c.*107A>G Single submitter pontocerebellar hypoplasia type 1A
- c.*171C>A Single submitter pontocerebellar hypoplasia type 1A
- c.*211A>G Single submitter pontocerebellar hypoplasia type 1A
- c.*281G>A Single submitter pontocerebellar hypoplasia type 1A
- c.*302T>C Single submitter pontocerebellar hypoplasia type 1A
- c.*338A>G Single submitter pontocerebellar hypoplasia type 1A
- p.Ala232Ser Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Ala351Thr Single submitter Inborn genetic diseases ⚠
- p.Ala383Ser Single submitter Inborn genetic diseases ⚠
- p.Ala7Ser Single submitter Inborn genetic diseases ⚠
- p.Ala9Val Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Arg101Pro Single submitter Inborn genetic diseases ⚠
- p.Arg103His Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Arg127Trp Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Arg133Gly Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Arg133Ser Single submitter ⚠
- p.Arg151Gly Single submitter ⚠
- p.Arg203Gln Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Arg219Ser Single submitter Inborn genetic diseases ⚠
- p.Arg241His Single submitter ⚠
- p.Arg277Lys Single submitter pontocerebellar hypoplasia type 1 ⚠
- p.Arg279Thr Single submitter Inborn genetic diseases ⚠
- p.Arg358Gln Single submitter Inborn genetic diseases ⚠
- p.Arg391Gly Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Arg391Thr Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Arg393fs Single submitter Inborn genetic diseases
- p.Arg3His Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Asn182His Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Asp137Asn Single submitter Inborn genetic diseases ⚠
- p.Asp177_Ile178dup Single submitter pontocerebellar hypoplasia type 1A
- p.Asp222Gly Single submitter neuronopathy, distal hereditary motor, autosomal recessive 10 ⚠
- p.Asp222His Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Asp231Gly Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Asp335Gly Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Asp335Val Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Asp55Gly Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Cys205Tyr Single submitter ⚠
- p.Cys250Trp Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Cys68Tyr Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Gln192Glu Single submitter Inborn genetic diseases ⚠
- p.Gln192Lys Single submitter neuronopathy, distal hereditary motor, autosomal recessive 10 ⚠
- p.Gln22Arg Single submitter Inborn genetic diseases ⚠
- p.Gln22Glu Single submitter Inborn genetic diseases ⚠
- p.Gln253Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Gln45Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Gln95Pro Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Gln97His Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Glu215Lys Single submitter Inborn genetic diseases ⚠
- p.Glu345Asp Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Glu367Gln Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Glu83Gly Single submitter neuronopathy, distal hereditary motor, autosomal recessive 10 ⚠
- p.Glu83Lys Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Gly223Asp Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Gly223Val Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Gly235Asp Single submitter pontocerebellar hypoplasia type 1 ⚠
- p.Gly369Ala Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Ile161= Single submitter pontocerebellar hypoplasia type 1A
- p.Ile178Thr Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Ile225Val Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Ile28Val Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Ile323Val Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Leu108Pro Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Leu165Pro Single submitter pontocerebellar hypoplasia type 1 ⚠
- p.Leu184Phe Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Leu185del Single submitter pontocerebellar hypoplasia type 1A
- p.Leu195Phe Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Leu247Arg Single submitter ⚠
- p.Leu247Pro Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Leu309Val Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Leu324Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Leu80Val Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Lys147Glu Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Lys16Glu Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Lys179Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Lys288Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Lys295Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Lys329Arg Single submitter Inborn genetic diseases ⚠
- p.Lys334Glu Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Lys356Glu Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Lys357Met Single submitter pontocerebellar hypoplasia type 1 ⚠
- p.Lys392Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Lys392fs Single submitter pontocerebellar hypoplasia type 1A
- p.Lys92Glu Single submitter Inborn genetic diseases ⚠
- p.Met1Ile Single submitter
- p.Pro190Leu Single submitter Inborn genetic diseases ⚠
- p.Pro206Ala Single submitter ⚠
- p.Pro206Gln Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Pro206Ser Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Pro315Leu Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Pro368Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Pro42Arg Single submitter Inborn genetic diseases ⚠
- p.Pro67Ser Single submitter Inborn genetic diseases ⚠
- p.Pro74Ala Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Pro74Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Pro74His Single submitter ⚠
- p.Ser125Gly Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Ser229Asn Single submitter Inborn genetic diseases ⚠
- p.Ser333Asn Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Ser342Cys Single submitter ⚠
- p.Ser342Pro Single submitter pontocerebellar hypoplasia type 1A
- p.Thr373Ala Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Thr373Pro Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Trp114Gly Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Trp375Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Trp37Arg Single submitter pontocerebellar hypoplasia type 1A ⚠
- p.Tyr142His Single submitter Inborn genetic diseases ⚠
- p.Tyr187Cys Single submitter pontocerebellar hypoplasia type 1A ⚠
- c.1160-7C>A No assertion criteria pontocerebellar hypoplasia type 1A
- c.483+10C>T No assertion criteria pontocerebellar hypoplasia type 1A
- p.Asn281Asp No assertion criteria pontocerebellar hypoplasia type 1 ⚠
- p.Asn57Ser No assertion criteria pontocerebellar hypoplasia type 1A ⚠
- p.Asp372Gly No assertion criteria pontocerebellar hypoplasia type 1A ⚠
- p.Glu381Gly No assertion criteria pontocerebellar hypoplasia type 1 ⚠
- p.Ile161Thr No assertion criteria pontocerebellar hypoplasia type 1A
- p.Leu108= No assertion criteria pontocerebellar hypoplasia type 1A
- p.Lys124= No assertion criteria pontocerebellar hypoplasia type 1A
- p.Lys140= No assertion criteria pontocerebellar hypoplasia type 1A
- p.Pro217Leu No assertion criteria pontocerebellar hypoplasia type 1A ⚠
- p.Ser181Ala No assertion criteria pontocerebellar hypoplasia type 1A ⚠
- p.Thr355Arg No assertion criteria pontocerebellar hypoplasia type 1 ⚠
- p.Thr82= No assertion criteria pontocerebellar hypoplasia type 1A