Sugi Variant

Sugi Variant/MKKS

MKKS — 642 ClinVar variants

All ClinVar germline MKKS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 266 flagged for review →

44 Pathogenic · 31 Pathogenic/Likely pathogenic · 39 Likely pathogenic · 36 Conflicting · 12 Benign · 7 Benign/Likely benign · 209 Likely benign · 264 Uncertain significance

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

⚑ Evidence disagreements 266

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 6

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

Predictors agree, ClinVar conflicts 20

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

Predictors lean, ClinVar uncertain 196

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 196

Predictors split 44

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

All MKKS variants

Pathogenic 44

Pathogenic/Likely pathogenic 31

  • p.Arg139Ter Multiple submitters MKKS-related disorder
  • p.Arg208fs Multiple submitters
  • p.Arg21fs Multiple submitters Bardet-Biedl syndrome
  • p.Asp314fs Multiple submitters McKusick-Kaufman syndrome
  • p.Gln391Ter Multiple submitters Bardet-Biedl syndrome
  • p.Gln59Ter Multiple submitters Bardet-Biedl syndrome 6
  • p.Glu172fs Multiple submitters Inborn genetic diseases
  • p.Glu322fs Multiple submitters McKusick-Kaufman syndrome
  • p.Glu437fs Multiple submitters Bardet-Biedl syndrome
  • p.Gly280fs Multiple submitters inherited retinal dystrophy
  • p.Gly317fs Multiple submitters Bardet-Biedl syndrome 6
  • p.Gly345Glu Multiple submitters Bardet-Biedl syndrome
  • p.Gly409fs Multiple submitters MKKS-related disorder
  • p.Gly52Asp Multiple submitters Bardet-Biedl syndrome 6
  • p.His84Tyr Multiple submitters Bardet-Biedl syndrome ⚠
  • p.Leu283fs Multiple submitters Bardet-Biedl syndrome 6
  • p.Leu290fs Multiple submitters Bardet-Biedl syndrome 6
  • p.Leu320fs Multiple submitters polycystic kidney disease
  • p.Leu74Ter Multiple submitters McKusick-Kaufman syndrome
  • p.Met1Arg Multiple submitters Bardet-Biedl syndrome
  • p.Phe144fs Multiple submitters Bardet-Biedl syndrome 6
  • p.Ser10Ter Multiple submitters MKKS-related disorder
  • p.Ser145Ter Multiple submitters Bardet-Biedl syndrome 6
  • p.Ser40Ter Multiple submitters Bardet-Biedl syndrome
  • p.Ser479Ter Multiple submitters Bardet-Biedl syndrome 6
  • p.Ser86Ter Multiple submitters Bardet-Biedl syndrome 6
  • p.Thr470_Asp471insTer Multiple submitters Bardet-Biedl syndrome
  • p.Thr57Ala Multiple submitters McKusick-Kaufman syndrome ⚠
  • p.Trp478Ter Multiple submitters McKusick-Kaufman syndrome
  • p.Tyr37Cys Multiple submitters Syndromic inherited retinal disease ⚠
  • p.Val396Phe Multiple submitters Bardet-Biedl syndrome ⚠

Likely pathogenic 39

Conflicting classifications of pathogenicity 36

Benign 12

Benign/Likely benign 7

  • c.-58T>C Multiple submitters Bardet-Biedl syndrome 6
  • c.*38A>G Multiple submitters Bardet-Biedl syndrome 6
  • c.*46G>T Multiple submitters McKusick-Kaufman syndrome
  • p.Ala488Thr Multiple submitters McKusick-Kaufman syndrome
  • p.Ala6Thr Multiple submitters McKusick-Kaufman syndrome
  • p.Arg139Gln Multiple submitters Bardet-Biedl syndrome 6
  • p.Gly532Val Multiple submitters Bardet-Biedl syndrome

Likely benign 209

  • c.1162-12del Multiple submitters Bardet-Biedl syndrome
  • c.1272+14T>C Multiple submitters Bardet-Biedl syndrome
  • c.1272+18C>T Multiple submitters McKusick-Kaufman syndrome
  • p.Ala96= Multiple submitters Bardet-Biedl syndrome
  • p.Arg180= Multiple submitters Bardet-Biedl syndrome
  • p.Asp274= Multiple submitters Bardet-Biedl syndrome
  • p.Asp286= Multiple submitters Bardet-Biedl syndrome
  • p.Gln444= Multiple submitters Bardet-Biedl syndrome
  • p.Gly137= Multiple submitters Bardet-Biedl syndrome
  • p.Gly49= Multiple submitters Bardet-Biedl syndrome
  • p.Ile233Met Multiple submitters Bardet-Biedl syndrome
  • p.Leu239= Multiple submitters Bardet-Biedl syndrome
  • p.Leu375= Multiple submitters Bardet-Biedl syndrome
  • p.Leu433= Multiple submitters Bardet-Biedl syndrome
  • p.Leu454= Multiple submitters McKusick-Kaufman syndrome
  • p.Leu63= Multiple submitters Bardet-Biedl syndrome
  • p.Leu77= Multiple submitters McKusick-Kaufman syndrome
  • p.Phe244= Multiple submitters Bardet-Biedl syndrome
  • p.Ser267= Multiple submitters Bardet-Biedl syndrome
  • p.Ser35= Multiple submitters Bardet-Biedl syndrome
  • p.Ser452= Multiple submitters Bardet-Biedl syndrome
  • p.Ser563= Multiple submitters Bardet-Biedl syndrome
  • p.Thr389= Multiple submitters Bardet-Biedl syndrome
  • p.Thr392= Multiple submitters Bardet-Biedl syndrome
  • p.Thr70= Multiple submitters Bardet-Biedl syndrome 6
  • p.Tyr264= Multiple submitters Bardet-Biedl syndrome
  • p.Tyr53= Multiple submitters Bardet-Biedl syndrome
  • p.Val214= Multiple submitters Bardet-Biedl syndrome
  • p.Val261= Multiple submitters Bardet-Biedl syndrome
  • p.Val565= Multiple submitters Bardet-Biedl syndrome
  • p.Val69= Multiple submitters Bardet-Biedl syndrome
  • c.1161+13_1161+19dup Single submitter McKusick-Kaufman syndrome
  • c.1161+150T>G Single submitter
  • c.1161+16del Single submitter McKusick-Kaufman syndrome
  • c.1161+17G>C Single submitter McKusick-Kaufman syndrome
  • c.1162-10T>G Single submitter McKusick-Kaufman syndrome
  • c.1162-11T>C Single submitter Bardet-Biedl syndrome
  • c.1162-12G>T Single submitter McKusick-Kaufman syndrome
  • c.1162-15T>G Single submitter McKusick-Kaufman syndrome
  • c.1162-218C>T Single submitter
  • c.1162-5C>G Single submitter McKusick-Kaufman syndrome
  • c.1162-7T>C Single submitter McKusick-Kaufman syndrome
  • c.1272+11T>C Single submitter McKusick-Kaufman syndrome
  • c.1272+14T>A Single submitter Bardet-Biedl syndrome
  • c.1272+16C>G Single submitter McKusick-Kaufman syndrome
  • c.1272+17T>G Single submitter Bardet-Biedl syndrome
  • c.1272+20T>C Single submitter McKusick-Kaufman syndrome
  • c.1272+7A>G Single submitter Bardet-Biedl syndrome
  • c.1272+8A>G Single submitter Bardet-Biedl syndrome
  • c.1272+9G>A Single submitter Bardet-Biedl syndrome
  • c.1273-165G>A Single submitter
  • c.1273-204A>G Single submitter
  • c.1273-5T>C Single submitter McKusick-Kaufman syndrome
  • c.1273-8C>T Single submitter Bardet-Biedl syndrome
  • c.1273-9A>G Single submitter McKusick-Kaufman syndrome
  • c.985+13_985+14del Single submitter Bardet-Biedl syndrome
  • c.985+13C>G Single submitter McKusick-Kaufman syndrome
  • c.985+18C>T Single submitter McKusick-Kaufman syndrome
  • c.985+20T>C Single submitter Bardet-Biedl syndrome
  • c.985+7A>G Single submitter McKusick-Kaufman syndrome
  • c.985+9C>T Single submitter McKusick-Kaufman syndrome
  • c.986-10del Single submitter McKusick-Kaufman syndrome
  • c.986-13C>T Single submitter McKusick-Kaufman syndrome
  • c.986-19T>C Single submitter McKusick-Kaufman syndrome
  • c.986-230A>C Single submitter
  • c.986-6_986-4del Single submitter McKusick-Kaufman syndrome
  • c.986-9A>G Single submitter McKusick-Kaufman syndrome
  • p.Ala190= Single submitter Bardet-Biedl syndrome
  • p.Ala353= Single submitter Bardet-Biedl syndrome
  • p.Ala368= Single submitter Bardet-Biedl syndrome
  • p.Ala419= Single submitter Bardet-Biedl syndrome
  • p.Ala453= Single submitter
  • p.Ala488= Single submitter Bardet-Biedl syndrome
  • p.Ala534= Single submitter McKusick-Kaufman syndrome
  • p.Arg118= Single submitter Bardet-Biedl syndrome
  • p.Arg139= Single submitter Bardet-Biedl syndrome
  • p.Arg168= Single submitter McKusick-Kaufman syndrome
  • p.Arg229= Single submitter Bardet-Biedl syndrome
  • p.Arg281= Single submitter McKusick-Kaufman syndrome
  • p.Arg3= Single submitter McKusick-Kaufman syndrome
  • p.Arg315= Single submitter Bardet-Biedl syndrome
  • p.Arg422= Single submitter McKusick-Kaufman syndrome
  • p.Arg517Cys Single submitter McKusick-Kaufman syndrome
  • p.Asn101= Single submitter Bardet-Biedl syndrome
  • p.Asn270= Single submitter Bardet-Biedl syndrome
  • p.Asn278= Single submitter McKusick-Kaufman syndrome
  • p.Asn306= Single submitter McKusick-Kaufman syndrome
  • p.Asn427= Single submitter McKusick-Kaufman syndrome
  • p.Asn509Ser Single submitter Inborn genetic diseases
  • p.Asn536= Single submitter McKusick-Kaufman syndrome
  • p.Asp143= Single submitter Bardet-Biedl syndrome
  • p.Asp349= Single submitter Bardet-Biedl syndrome
  • p.Asp568= Single submitter McKusick-Kaufman syndrome
  • p.Asp90= Single submitter
  • p.Cys371= Single submitter Bardet-Biedl syndrome
  • p.Cys390= Single submitter McKusick-Kaufman syndrome
  • p.Cys91= Single submitter Bardet-Biedl syndrome
  • p.Cys99= Single submitter McKusick-Kaufman syndrome
  • p.Gln207= Single submitter McKusick-Kaufman syndrome
  • p.Gln226= Single submitter McKusick-Kaufman syndrome
  • p.Gln294= Single submitter McKusick-Kaufman syndrome
  • p.Gln331= Single submitter Bardet-Biedl syndrome
  • p.Gln45= Single submitter Bardet-Biedl syndrome
  • p.Gln505= Single submitter McKusick-Kaufman syndrome
  • p.Gln523= Single submitter Bardet-Biedl syndrome
  • p.Glu221= Single submitter Bardet-Biedl syndrome
  • p.Glu437= Single submitter Bardet-Biedl syndrome
  • p.Glu507= Single submitter McKusick-Kaufman syndrome
  • p.Gly197= Single submitter McKusick-Kaufman syndrome
  • p.Gly329= Single submitter McKusick-Kaufman syndrome
  • p.Gly337= Single submitter McKusick-Kaufman syndrome
  • p.Gly41= Single submitter Bardet-Biedl syndrome
  • p.Gly459= Single submitter Bardet-Biedl syndrome
  • p.Gly500= Single submitter McKusick-Kaufman syndrome
  • p.His287= Single submitter McKusick-Kaufman syndrome
  • p.His426= Single submitter McKusick-Kaufman syndrome
  • p.His66= Single submitter Bardet-Biedl syndrome
  • p.His71= Single submitter McKusick-Kaufman syndrome
  • p.Ile140= Single submitter
  • p.Ile194= Single submitter Bardet-Biedl syndrome
  • p.Ile370= Single submitter Bardet-Biedl syndrome
  • p.Ile468= Single submitter Bardet-Biedl syndrome
  • p.Leu109= Single submitter McKusick-Kaufman syndrome
  • p.Leu11= Single submitter McKusick-Kaufman syndrome
  • p.Leu119= Single submitter Bardet-Biedl syndrome
  • p.Leu131= Single submitter McKusick-Kaufman syndrome
  • p.Leu166= Single submitter Bardet-Biedl syndrome
  • p.Leu177= Single submitter McKusick-Kaufman syndrome
  • p.Leu183= Single submitter Bardet-Biedl syndrome
  • p.Leu219= Single submitter McKusick-Kaufman syndrome
  • p.Leu230= Single submitter Bardet-Biedl syndrome
  • p.Leu243= Single submitter Bardet-Biedl syndrome
  • p.Leu292Met Single submitter Inborn genetic diseases ⚠
  • p.Leu324= Single submitter McKusick-Kaufman syndrome
  • p.Leu336= Single submitter Bardet-Biedl syndrome
  • p.Leu388= Single submitter Bardet-Biedl syndrome
  • p.Leu397= Single submitter McKusick-Kaufman syndrome
  • p.Leu401= Single submitter McKusick-Kaufman syndrome
  • p.Leu408= Single submitter McKusick-Kaufman syndrome
  • p.Leu46= Single submitter Bardet-Biedl syndrome
  • p.Leu501= Single submitter McKusick-Kaufman syndrome
  • p.Leu526= Single submitter Bardet-Biedl syndrome
  • p.Leu537= Single submitter Bardet-Biedl syndrome
  • p.Leu542= Single submitter
  • p.Leu546= Single submitter McKusick-Kaufman syndrome
  • p.Leu64= Single submitter McKusick-Kaufman syndrome
  • p.Lys198= Single submitter McKusick-Kaufman syndrome
  • p.Lys240= Single submitter
  • p.Lys348= Single submitter McKusick-Kaufman syndrome
  • p.Phe144= Single submitter McKusick-Kaufman syndrome
  • p.Phe88= Single submitter Bardet-Biedl syndrome
  • p.Phe94= Single submitter Bardet-Biedl syndrome
  • p.Pro187= Single submitter Bardet-Biedl syndrome
  • p.Pro216= Single submitter Bardet-Biedl syndrome
  • p.Pro299= Single submitter Bardet-Biedl syndrome
  • p.Pro323= Single submitter Bardet-Biedl syndrome
  • p.Pro365= Single submitter McKusick-Kaufman syndrome
  • p.Pro522= Single submitter McKusick-Kaufman syndrome
  • p.Pro9= Single submitter Bardet-Biedl syndrome
  • p.Ser10= Single submitter Bardet-Biedl syndrome
  • p.Ser145= Single submitter McKusick-Kaufman syndrome
  • p.Ser175= Single submitter McKusick-Kaufman syndrome
  • p.Ser2= Single submitter McKusick-Kaufman syndrome
  • p.Ser236= Single submitter McKusick-Kaufman syndrome
  • p.Ser249= Single submitter Bardet-Biedl syndrome
  • p.Ser253= Single submitter Bardet-Biedl syndrome
  • p.Ser27= Single submitter Bardet-Biedl syndrome
  • p.Ser40= Single submitter McKusick-Kaufman syndrome
  • p.Ser456= Single submitter Bardet-Biedl syndrome
  • p.Ser460= Single submitter McKusick-Kaufman syndrome
  • p.Ser479= Single submitter McKusick-Kaufman syndrome
  • p.Ser515= Single submitter McKusick-Kaufman syndrome
  • p.Ser524= Single submitter Bardet-Biedl syndrome
  • p.Ser533= Single submitter Bardet-Biedl syndrome
  • p.Ser535= Single submitter Bardet-Biedl syndrome
  • p.Ser58= Single submitter Bardet-Biedl syndrome
  • p.Thr112= Single submitter Bardet-Biedl syndrome
  • p.Thr135= Single submitter McKusick-Kaufman syndrome
  • p.Thr171= Single submitter Bardet-Biedl syndrome
  • p.Thr246= Single submitter McKusick-Kaufman syndrome
  • p.Thr255= Single submitter McKusick-Kaufman syndrome
  • p.Thr400= Single submitter McKusick-Kaufman syndrome
  • p.Thr470= Single submitter Bardet-Biedl syndrome
  • p.Tyr130= Single submitter Bardet-Biedl syndrome
  • p.Tyr344= Single submitter McKusick-Kaufman syndrome
  • p.Tyr37= Single submitter Bardet-Biedl syndrome
  • p.Tyr420= Single submitter McKusick-Kaufman syndrome
  • p.Tyr474= Single submitter Bardet-Biedl syndrome
  • p.Tyr564= Single submitter McKusick-Kaufman syndrome
  • p.Val106= Single submitter Bardet-Biedl syndrome
  • p.Val174= Single submitter McKusick-Kaufman syndrome
  • p.Val22= Single submitter McKusick-Kaufman syndrome
  • p.Val260= Single submitter Bardet-Biedl syndrome
  • p.Val28= Single submitter McKusick-Kaufman syndrome
  • p.Val288= Single submitter Bardet-Biedl syndrome
  • p.Val54= Single submitter Bardet-Biedl syndrome
  • p.Val85= Single submitter McKusick-Kaufman syndrome
  • c.1273-3T>C No assertion criteria MKKS-related disorder
  • c.*4A>G No assertion criteria MKKS-related disorder
  • p.Asp314= No assertion criteria MKKS-related disorder
  • p.Leu17= No assertion criteria MKKS-related disorder
  • p.Leu283= No assertion criteria MKKS-related disorder
  • p.Leu292= No assertion criteria MKKS-related disorder
  • p.Pro141= No assertion criteria MKKS-related disorder
  • p.Pro16= No assertion criteria MKKS-related disorder
  • p.Ser212= No assertion criteria MKKS-related disorder
  • p.Thr115= No assertion criteria MKKS-related disorder
  • p.Thr159= No assertion criteria MKKS-related disorder
  • p.Thr369= No assertion criteria MKKS-related disorder

Uncertain significance 264