Sugi Variant

Sugi Variant/JPH2

JPH2 — 1108 ClinVar variants

All ClinVar germline JPH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 605 flagged for review →

5 Pathogenic · 1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 64 Conflicting · 35 Benign · 23 Benign/Likely benign · 346 Likely benign · 631 Uncertain significance

Full JPH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 605

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 55

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

Predictors lean, ClinVar uncertain 450

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 450

Predictors split 100

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

All JPH2 variants

Pathogenic 5

  • p.Gly36fs Single submitter hypertrophic cardiomyopathy 17
  • p.Trp18Ter Single submitter cardiomyopathy
  • p.Glu641Ter No assertion criteria cardiomyopathy, dilated, 2E
  • p.Ser101Arg No assertion criteria hypertrophic cardiomyopathy 17 ⚠
  • p.Ser165Phe No assertion criteria hypertrophic cardiomyopathy 17

Pathogenic/Likely pathogenic 1

  • p.Thr161Lys Multiple submitters JPH2-related disorder

Likely pathogenic 3

Conflicting classifications of pathogenicity 64

Benign 35

Benign/Likely benign 23

  • c.1169+10C>T Multiple submitters hypertrophic cardiomyopathy 17
  • c.1289-7C>T Multiple submitters hypertrophic cardiomyopathy 17
  • c.2010+11C>T Multiple submitters hypertrophic cardiomyopathy
  • c.379+20C>T Multiple submitters hypertrophic cardiomyopathy
  • c.380-6C>T Multiple submitters hypertrophic cardiomyopathy 17
  • c.380-9C>G Multiple submitters hypertrophic cardiomyopathy
  • p.Ala214= Multiple submitters Cardiovascular phenotype
  • p.Ala260= Multiple submitters Cardiovascular phenotype
  • p.Arg156= Multiple submitters hypertrophic cardiomyopathy
  • p.Arg522= Multiple submitters hypertrophic cardiomyopathy 17
  • p.Asp274Asn Multiple submitters Cardiovascular phenotype
  • p.Glu411= Multiple submitters Cardiovascular phenotype
  • p.Glu577= Multiple submitters Cardiovascular phenotype
  • p.Glu657= Multiple submitters Cardiovascular phenotype
  • p.Gly505Ser Multiple submitters Cardiovascular phenotype
  • p.Ile379= Multiple submitters Cardiovascular phenotype
  • p.Lys216= Multiple submitters Cardiovascular phenotype
  • p.Pro188Ser Multiple submitters Cardiovascular phenotype
  • p.Ser247= Multiple submitters hypertrophic cardiomyopathy
  • p.Ser369= Multiple submitters Cardiovascular phenotype
  • p.Ser568= Multiple submitters Cardiovascular phenotype
  • p.Ser598= Multiple submitters Cardiovascular phenotype
  • p.Thr161= Multiple submitters Cardiovascular phenotype

Likely benign 346

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

  • c.1169+16G>C Multiple submitters hypertrophic cardiomyopathy
  • c.1169+8A>G Multiple submitters hypertrophic cardiomyopathy
  • c.1170-11T>C Multiple submitters hypertrophic cardiomyopathy
  • c.2010+14G>T Multiple submitters hypertrophic cardiomyopathy
  • c.2011-15C>T Multiple submitters hypertrophic cardiomyopathy
  • c.379+12T>G Multiple submitters hypertrophic cardiomyopathy
  • c.379+14G>C Multiple submitters hypertrophic cardiomyopathy
  • c.379+17G>A Multiple submitters hypertrophic cardiomyopathy
  • c.379+19C>T Multiple submitters hypertrophic cardiomyopathy
  • c.379+8507A>C Multiple submitters
  • c.379+9A>G Multiple submitters hypertrophic cardiomyopathy
  • c.380-105G>A Multiple submitters
  • c.380-141T>C Multiple submitters
  • c.380-20C>T Multiple submitters hypertrophic cardiomyopathy 17
  • c.*14+175A>G Multiple submitters
  • p.Ala13= Multiple submitters Cardiovascular phenotype
  • p.Ala189= Multiple submitters Cardiovascular phenotype
  • p.Ala194= Multiple submitters Cardiovascular phenotype
  • p.Ala208= Multiple submitters Cardiovascular phenotype
  • p.Ala210= Multiple submitters Cardiovascular phenotype
  • p.Ala211= Multiple submitters hypertrophic cardiomyopathy
  • p.Ala261= Multiple submitters Cardiovascular phenotype
  • p.Ala270= Multiple submitters Cardiovascular phenotype
  • p.Ala273= Multiple submitters Cardiovascular phenotype
  • p.Ala281= Multiple submitters hypertrophic cardiomyopathy
  • p.Ala380= Multiple submitters Cardiovascular phenotype
  • p.Ala387= Multiple submitters hypertrophic cardiomyopathy
  • p.Ala401= Multiple submitters Cardiovascular phenotype
  • p.Ala488= Multiple submitters Cardiovascular phenotype
  • p.Ala49= Multiple submitters Cardiovascular phenotype
  • p.Ala615= Multiple submitters Cardiovascular phenotype
  • p.Ala648= Multiple submitters Cardiovascular phenotype
  • p.Ala658= Multiple submitters Cardiovascular phenotype
  • p.Ala659= Multiple submitters hypertrophic cardiomyopathy
  • p.Ala664= Multiple submitters Cardiovascular phenotype
  • p.Arg223= Multiple submitters Cardiovascular phenotype
  • p.Arg245= Multiple submitters Cardiovascular phenotype
  • p.Arg455= Multiple submitters Cardiovascular phenotype
  • p.Arg479= Multiple submitters hypertrophic cardiomyopathy
  • p.Asn135= Multiple submitters hypertrophic cardiomyopathy
  • p.Asn297= Multiple submitters Cardiovascular phenotype
  • p.Asn513= Multiple submitters Cardiovascular phenotype
  • p.Asn684= Multiple submitters Cardiovascular phenotype
  • p.Asp10= Multiple submitters Cardiovascular phenotype
  • p.Asp116= Multiple submitters hypertrophic cardiomyopathy
  • p.Asp282= Multiple submitters Cardiovascular phenotype
  • p.Asp333= Multiple submitters Cardiovascular phenotype
  • p.Asp504= Multiple submitters hypertrophic cardiomyopathy
  • p.Cys15= Multiple submitters Cardiovascular phenotype
  • p.Glu121= Multiple submitters Cardiovascular phenotype
  • p.Glu234= Multiple submitters Cardiovascular phenotype
  • p.Glu451= Multiple submitters hypertrophic cardiomyopathy
  • p.Glu557= Multiple submitters Cardiovascular phenotype
  • p.Glu559= Multiple submitters hypertrophic cardiomyopathy
  • p.Glu586= Multiple submitters hypertrophic cardiomyopathy
  • p.Glu588= Multiple submitters Cardiovascular phenotype
  • p.Glu617= Multiple submitters Cardiovascular phenotype
  • p.Glu623= Multiple submitters hypertrophic cardiomyopathy
  • p.Gly16= Multiple submitters Cardiovascular phenotype
  • p.Gly3= Multiple submitters hypertrophic cardiomyopathy
  • p.Gly458= Multiple submitters hypertrophic cardiomyopathy
  • p.Gly510= Multiple submitters Cardiovascular phenotype
  • p.Gly591Arg Multiple submitters Cardiovascular phenotype
  • p.Gly78= Multiple submitters Cardiovascular phenotype
  • p.His24= Multiple submitters Cardiovascular phenotype
  • p.His324= Multiple submitters Cardiovascular phenotype
  • p.His473= Multiple submitters hypertrophic cardiomyopathy
  • p.Ile442= Multiple submitters Cardiovascular phenotype
  • p.Ile685= Multiple submitters hypertrophic cardiomyopathy
  • p.Leu204= Multiple submitters Cardiovascular phenotype
  • p.Leu226= Multiple submitters Cardiovascular phenotype
  • p.Leu230= Multiple submitters Cardiovascular phenotype
  • p.Leu438= Multiple submitters hypertrophic cardiomyopathy
  • p.Leu439= Multiple submitters Cardiovascular phenotype
  • p.Leu450= Multiple submitters hypertrophic cardiomyopathy
  • p.Leu604= Multiple submitters hypertrophic cardiomyopathy
  • p.Leu695= Multiple submitters hypertrophic cardiomyopathy
  • p.Leu72= Multiple submitters Cardiovascular phenotype
  • p.Lys299= Multiple submitters hypertrophic cardiomyopathy
  • p.Lys383= Multiple submitters Cardiovascular phenotype
  • p.Lys395= Multiple submitters Cardiovascular phenotype
  • p.Lys495= Multiple submitters hypertrophic cardiomyopathy
  • p.Lys621= Multiple submitters Cardiovascular phenotype
  • p.Lys630= Multiple submitters hypertrophic cardiomyopathy
  • p.Lys639= Multiple submitters Cardiovascular phenotype
  • p.Phe279= Multiple submitters hypertrophic cardiomyopathy
  • p.Pro177= Multiple submitters Cardiovascular phenotype
  • p.Pro332= Multiple submitters Cardiovascular phenotype
  • p.Pro424= Multiple submitters Cardiovascular phenotype
  • p.Pro453= Multiple submitters Cardiovascular phenotype
  • p.Pro465= Multiple submitters hypertrophic cardiomyopathy
  • p.Pro470= Multiple submitters hypertrophic cardiomyopathy
  • p.Pro480= Multiple submitters hypertrophic cardiomyopathy
  • p.Pro485= Multiple submitters Cardiovascular phenotype
  • p.Pro492= Multiple submitters Cardiovascular phenotype
  • p.Pro499= Multiple submitters Cardiovascular phenotype
  • p.Pro526= Multiple submitters hypertrophic cardiomyopathy
  • p.Pro554= Multiple submitters Cardiovascular phenotype
  • p.Pro580= Multiple submitters Cardiovascular phenotype
  • p.Pro587= Multiple submitters hypertrophic cardiomyopathy
  • p.Pro599= Multiple submitters Cardiovascular phenotype
  • p.Pro603= Multiple submitters Cardiovascular phenotype
  • p.Pro603Leu Multiple submitters Cardiovascular phenotype
  • p.Pro612= Multiple submitters hypertrophic cardiomyopathy
  • p.Ser102= Multiple submitters Cardiovascular phenotype
  • p.Ser164= Multiple submitters hypertrophic cardiomyopathy
  • p.Ser165= Multiple submitters hypertrophic cardiomyopathy
  • p.Ser179= Multiple submitters Cardiovascular phenotype
  • p.Ser192= Multiple submitters Cardiovascular phenotype
  • p.Ser235= Multiple submitters hypertrophic cardiomyopathy
  • p.Ser238= Multiple submitters Cardiovascular phenotype
  • p.Ser310= Multiple submitters hypertrophic cardiomyopathy
  • p.Ser448= Multiple submitters Cardiovascular phenotype
  • p.Ser517= Multiple submitters Cardiovascular phenotype
  • p.Ser56= Multiple submitters Cardiovascular phenotype
  • p.Ser590= Multiple submitters Cardiovascular phenotype
  • p.Thr128= Multiple submitters Cardiovascular phenotype
  • p.Thr237= Multiple submitters Cardiovascular phenotype
  • p.Thr286Ala Multiple submitters cardiomyopathy
  • p.Thr287= Multiple submitters hypertrophic cardiomyopathy
  • p.Thr417= Multiple submitters hypertrophic cardiomyopathy
  • p.Thr477= Multiple submitters Cardiovascular phenotype
  • p.Thr53= Multiple submitters hypertrophic cardiomyopathy
  • p.Thr574= Multiple submitters Cardiovascular phenotype
  • p.Thr601= Multiple submitters hypertrophic cardiomyopathy
  • p.Tyr326= Multiple submitters Cardiovascular phenotype
  • p.Tyr38= Multiple submitters Cardiovascular phenotype
  • p.Tyr563= Multiple submitters Cardiovascular phenotype
  • p.Tyr94= Multiple submitters Cardiovascular phenotype
  • p.Val175= Multiple submitters Cardiovascular phenotype
  • p.Val347= Multiple submitters Cardiovascular phenotype
  • p.Val671= Multiple submitters hypertrophic cardiomyopathy
  • c.1169+11G>A Single submitter hypertrophic cardiomyopathy
  • c.1169+12G>A Single submitter hypertrophic cardiomyopathy
  • c.1169+16G>A Single submitter hypertrophic cardiomyopathy
  • c.1169+16G>T Single submitter hypertrophic cardiomyopathy
  • c.1169+18G>C Single submitter
  • c.1169+20G>T Single submitter hypertrophic cardiomyopathy
  • c.1169+248del Single submitter
  • c.1170-17C>A Single submitter hypertrophic cardiomyopathy
  • c.1170-278A>C Single submitter
  • c.1288+10G>C Single submitter hypertrophic cardiomyopathy
  • c.1288+13A>G Single submitter hypertrophic cardiomyopathy
  • c.1288+15G>C Single submitter hypertrophic cardiomyopathy
  • c.1288+19G>A Single submitter hypertrophic cardiomyopathy
  • c.1288+20G>A Single submitter hypertrophic cardiomyopathy
  • c.1288+52C>T Single submitter
  • c.1288+8_1288+36del Single submitter hypertrophic cardiomyopathy
  • c.1289-13G>C Single submitter hypertrophic cardiomyopathy
  • c.1289-34G>T Single submitter
  • c.1289-36G>C Single submitter
  • c.1289-6T>C Single submitter hypertrophic cardiomyopathy
  • c.1289-8C>T Single submitter hypertrophic cardiomyopathy
  • c.2010+12G>A Single submitter hypertrophic cardiomyopathy
  • c.2010+245G>A Single submitter
  • c.2010+7C>T Single submitter hypertrophic cardiomyopathy
  • c.2010+89G>A Single submitter
  • c.2010+8T>C Single submitter hypertrophic cardiomyopathy
  • c.2011-100C>G Single submitter
  • c.379+12T>C Single submitter hypertrophic cardiomyopathy
  • c.379+13G>A Single submitter hypertrophic cardiomyopathy
  • c.379+20C>G Single submitter hypertrophic cardiomyopathy
  • c.379+4796G>A Single submitter
  • c.379+4820G>A Single submitter
  • c.379+8052T>C Single submitter
  • c.379+8362T>C Single submitter
  • c.379+8823G>A Single submitter
  • c.379+9329G>A Single submitter
  • c.380-10T>G Single submitter hypertrophic cardiomyopathy
  • c.380-12C>T Single submitter hypertrophic cardiomyopathy
  • c.380-16C>T Single submitter hypertrophic cardiomyopathy
  • c.380-18C>T Single submitter
  • c.380-19G>T Single submitter hypertrophic cardiomyopathy
  • c.*14+124C>T Single submitter
  • c.*14+15C>T Single submitter
  • c.*14+169GC[3] Single submitter
  • c.*14+169GC[4] Single submitter
  • c.*14+259C>T Single submitter
  • c.*14+3G>T Single submitter
  • c.*3G>A Single submitter
  • p.Ala152= Single submitter Cardiovascular phenotype
  • p.Ala176= Single submitter Cardiovascular phenotype
  • p.Ala181= Single submitter hypertrophic cardiomyopathy
  • p.Ala206= Single submitter Cardiovascular phenotype
  • p.Ala212= Single submitter Cardiovascular phenotype
  • p.Ala212Val Single submitter Cardiovascular phenotype
  • p.Ala225= Single submitter
  • p.Ala277= Single submitter Cardiovascular phenotype
  • p.Ala376= Single submitter Cardiovascular phenotype
  • p.Ala377= Single submitter hypertrophic cardiomyopathy
  • p.Ala384= Single submitter Cardiovascular phenotype
  • p.Ala396= Single submitter hypertrophic cardiomyopathy
  • p.Ala404= Single submitter hypertrophic cardiomyopathy
  • p.Ala553= Single submitter hypertrophic cardiomyopathy
  • p.Ala631= Single submitter hypertrophic cardiomyopathy
  • p.Ala637= Single submitter hypertrophic cardiomyopathy
  • p.Ala650= Single submitter Cardiovascular phenotype
  • p.Ala661= Single submitter
  • p.Arg138= Single submitter hypertrophic cardiomyopathy
  • p.Arg197= Single submitter Cardiovascular phenotype
  • p.Arg232= Single submitter hypertrophic cardiomyopathy
  • p.Arg313= Single submitter hypertrophic cardiomyopathy
  • p.Arg353His Single submitter Cardiovascular phenotype
  • p.Arg363= Single submitter hypertrophic cardiomyopathy
  • p.Arg375= Single submitter
  • p.Arg420= Single submitter
  • p.Arg437= Single submitter hypertrophic cardiomyopathy
  • p.Arg467= Single submitter
  • p.Arg479Gln Single submitter Cardiovascular phenotype
  • p.Arg496= Single submitter Cardiovascular phenotype
  • p.Arg498= Single submitter
  • p.Arg537Leu Single submitter Cardiovascular phenotype
  • p.Arg93= Single submitter Cardiovascular phenotype
  • p.Arg97= Single submitter Cardiovascular phenotype
  • p.Asn207= Single submitter Cardiovascular phenotype
  • p.Asn321= Single submitter hypertrophic cardiomyopathy
  • p.Asn413= Single submitter hypertrophic cardiomyopathy
  • p.Asp125= Single submitter hypertrophic cardiomyopathy
  • p.Asp178= Single submitter hypertrophic cardiomyopathy
  • p.Asp186= Single submitter hypertrophic cardiomyopathy
  • p.Asp284= Single submitter hypertrophic cardiomyopathy
  • p.Asp320= Single submitter hypertrophic cardiomyopathy
  • p.Asp7= Single submitter Cardiovascular phenotype
  • p.Cys328Arg Single submitter Cardiovascular phenotype
  • p.Gln145= Single submitter hypertrophic cardiomyopathy
  • p.Glu19Gly Single submitter ⚠
  • p.Glu209= Single submitter hypertrophic cardiomyopathy
  • p.Glu289= Single submitter hypertrophic cardiomyopathy
  • p.Glu307= Single submitter hypertrophic cardiomyopathy
  • p.Glu337= Single submitter Cardiovascular phenotype
  • p.Glu338= Single submitter hypertrophic cardiomyopathy
  • p.Glu385= Single submitter hypertrophic cardiomyopathy
  • p.Glu432= Single submitter Cardiovascular phenotype
  • p.Glu476= Single submitter hypertrophic cardiomyopathy
  • p.Glu593= Single submitter Cardiovascular phenotype
  • p.Glu632= Single submitter hypertrophic cardiomyopathy
  • p.Glu663= Single submitter hypertrophic cardiomyopathy
  • p.Glu667= Single submitter Cardiovascular phenotype
  • p.Glu85= Single submitter hypertrophic cardiomyopathy
  • p.Gly119= Single submitter hypertrophic cardiomyopathy
  • p.Gly140= Single submitter Cardiovascular phenotype
  • p.Gly142= Single submitter Cardiovascular phenotype
  • p.Gly17= Single submitter hypertrophic cardiomyopathy
  • p.Gly173= Single submitter hypertrophic cardiomyopathy
  • p.Gly224= Single submitter Cardiovascular phenotype
  • p.Gly240= Single submitter Cardiovascular phenotype
  • p.Gly293= Single submitter Cardiovascular phenotype
  • p.Gly311= Single submitter Cardiovascular phenotype
  • p.Gly325= Single submitter Cardiovascular phenotype
  • p.Gly327= Single submitter Cardiovascular phenotype
  • p.Gly339= Single submitter hypertrophic cardiomyopathy
  • p.Gly36= Single submitter hypertrophic cardiomyopathy
  • p.Gly4= Single submitter hypertrophic cardiomyopathy
  • p.Gly456= Single submitter hypertrophic cardiomyopathy
  • p.Gly483= Single submitter hypertrophic cardiomyopathy
  • p.Gly529= Single submitter hypertrophic cardiomyopathy
  • p.Gly62= Single submitter Cardiovascular phenotype
  • p.Gly644= Single submitter Cardiovascular phenotype
  • p.Gly649= Single submitter Cardiovascular phenotype
  • p.Gly84= Single submitter hypertrophic cardiomyopathy
  • p.Gly92= Single submitter Cardiovascular phenotype
  • p.Gly95= Single submitter Cardiovascular phenotype
  • p.His139= Single submitter Cardiovascular phenotype
  • p.His88= Single submitter Cardiovascular phenotype
  • p.Ile283= Single submitter hypertrophic cardiomyopathy
  • p.Ile545= Single submitter
  • p.Ile96Thr Single submitter Cardiovascular phenotype
  • p.Leu163= Single submitter Cardiovascular phenotype
  • p.Leu166= Single submitter hypertrophic cardiomyopathy
  • p.Leu205= Single submitter hypertrophic cardiomyopathy
  • p.Leu205Pro Single submitter Cardiovascular phenotype
  • p.Leu249= Single submitter Cardiovascular phenotype
  • p.Leu253= Single submitter Cardiovascular phenotype
  • p.Leu449= Single submitter Cardiovascular phenotype
  • p.Leu462= Single submitter hypertrophic cardiomyopathy
  • p.Leu462Ile Single submitter Cardiovascular phenotype
  • p.Leu506= Single submitter hypertrophic cardiomyopathy
  • p.Leu507= Single submitter Cardiovascular phenotype
  • p.Leu645= Single submitter Cardiovascular phenotype
  • p.Leu690= Single submitter hypertrophic cardiomyopathy
  • p.Leu81= Single submitter Cardiovascular phenotype
  • p.Lys229= Single submitter Cardiovascular phenotype
  • p.Lys340= Single submitter Cardiovascular phenotype
  • p.Lys653Arg Single submitter Cardiovascular phenotype
  • p.Lys83= Single submitter Cardiovascular phenotype
  • p.Lys83Gln Single submitter Cardiovascular phenotype
  • p.Phe303= Single submitter hypertrophic cardiomyopathy
  • p.Phe44= Single submitter
  • p.Phe60= Single submitter Cardiovascular phenotype
  • p.Pro180= Single submitter Cardiovascular phenotype
  • p.Pro183= Single submitter hypertrophic cardiomyopathy
  • p.Pro188= Single submitter Cardiovascular phenotype
  • p.Pro193= Single submitter Cardiovascular phenotype
  • p.Pro431= Single submitter hypertrophic cardiomyopathy
  • p.Pro491= Single submitter hypertrophic cardiomyopathy
  • p.Pro551= Single submitter Cardiovascular phenotype
  • p.Pro558= Single submitter Cardiovascular phenotype
  • p.Pro575= Single submitter hypertrophic cardiomyopathy
  • p.Pro585= Single submitter Cardiovascular phenotype
  • p.Pro596= Single submitter hypertrophic cardiomyopathy

Uncertain significance 631

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