ORC6 — 173 ClinVar variants
All ClinVar germline ORC6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 59 flagged for review →
11 Pathogenic · 1 Pathogenic/Likely pathogenic · 5 Likely pathogenic · 7 Conflicting · 7 Benign · 2 Benign/Likely benign · 57 Likely benign · 83 Uncertain significance
Full ORC6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 59
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
ORC6 p.Arg22Lys
Pathogenic
Single submitter
Meier-Gorlin syndrome 3
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
- ORC6 p.Asp187Asn Conflicting Single submitter
-
ORC6 p.Tyr79Asn
Conflicting
Single submitter
Meier-Gorlin syndrome 3
Predictors lean, ClinVar uncertain 46
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
ORC6 p.Ala10Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ORC6 p.Arg8His Uncertain significance Multiple submitters
-
ORC6 p.Arg8Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ORC6 p.Ile69Met
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 3
-
ORC6 p.Leu228Val
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 3
-
ORC6 p.Leu92Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ORC6 p.Met218Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ORC6 p.Pro11Arg
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 3
-
ORC6 p.Pro138Gln
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 3
-
ORC6 p.Val186Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
- ORC6 p.Ala102Thr Uncertain significance Single submitter
-
ORC6 p.Ala194Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Ala244Val
Uncertain significance
Single submitter
Inborn genetic diseases
- ORC6 p.Ala40Gly Uncertain significance Single submitter
-
ORC6 p.Ala40Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Arg137Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- ORC6 p.Arg174Gln Uncertain significance Single submitter
-
ORC6 p.Arg41Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ORC6 p.Arg65Lys Uncertain significance Single submitter
-
ORC6 p.Asn95His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Asp173Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- ORC6 p.Gln127His Uncertain significance Single submitter
- ORC6 p.Gln129Leu Uncertain significance Single submitter
- ORC6 p.Glu211Gln Uncertain significance Single submitter
-
ORC6 p.Glu216Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- ORC6 p.Ile203Leu Uncertain significance Single submitter
-
ORC6 p.Ile6Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Ile96Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Leu101Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Leu179Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Leu9Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- ORC6 p.Leu9Pro Uncertain significance Single submitter
- ORC6 p.Lys155Arg Uncertain significance Single submitter
- ORC6 p.Lys214Glu Uncertain significance Single submitter
- ORC6 p.Met113Ile Uncertain significance Single submitter
- ORC6 p.Met59Ile Uncertain significance Single submitter
- ORC6 p.Pro138Leu Uncertain significance Single submitter
-
ORC6 p.Pro222Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- ORC6 p.Ser3Leu Uncertain significance Single submitter
- ORC6 p.Ser47Thr Uncertain significance Single submitter
-
ORC6 p.Ser57Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- ORC6 p.Thr229Ala Uncertain significance Single submitter
-
ORC6 p.Thr250Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Thr250Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Thr42Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Val215Leu
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 10
The independent predictors disagree with each other — read with care.
-
ORC6 p.Gln130His
Uncertain significance
Multiple submitters
Meier-Gorlin syndrome 3
-
ORC6 p.Phe105Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ORC6 p.Val167Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
ORC6 p.Ala144Thr
Uncertain significance
Single submitter
Meier-Gorlin syndrome 3
- ORC6 p.Ala244Gly Uncertain significance Single submitter
-
ORC6 p.Arg12Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Arg198Trp
Uncertain significance
Single submitter
Meier-Gorlin syndrome 3
-
ORC6 p.Arg29His
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Asp157Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
ORC6 p.Gly166Ser
Uncertain significance
Single submitter
Inborn genetic diseases
All ORC6 variants
Pathogenic 11
- p.Ala170fs Single submitter
- p.Ala24Val Single submitter Meier-Gorlin syndrome 3
- p.Arg22Lys Single submitter Meier-Gorlin syndrome 3 ⚠
- p.Glu17Ter Single submitter
- p.Ile117_Leu118insTer Single submitter
- p.Met1Val Single submitter Meier-Gorlin syndrome 3
- p.Ser147Ter Single submitter
- p.Ser72fs Single submitter
- p.Trp58Ter Single submitter
- p.Tyr232Ser Single submitter Meier-Gorlin syndrome 3
- p.Lys201fs No assertion criteria Meier-Gorlin syndrome 3
Pathogenic/Likely pathogenic 1
- p.Ser85_Phe86insTer Multiple submitters ORC6-related disorders
Likely pathogenic 5
- c.196-1G>A Single submitter
- c.359+1G>A Single submitter
- c.359+2T>C Single submitter ORC6-related disorders
- c.65+2T>C Single submitter
- c.360-1G>T No assertion criteria Meier-Gorlin syndrome 3
Conflicting classifications of pathogenicity 7
- c.360-13A>G Single submitter Meier-Gorlin syndrome 3
- c.449+5G>A Single submitter ORC6-related disorders
- p.Asp187Asn Single submitter ⚠
- p.Gln184= Single submitter Meier-Gorlin syndrome 3
- p.Leu9= Single submitter Meier-Gorlin syndrome 3
- p.Met1Thr Single submitter ORC6-related disorders
- p.Tyr79Asn Single submitter Meier-Gorlin syndrome 3 ⚠
Benign 7
- c.450-203T>C Multiple submitters
- c.-20T>C Multiple submitters Meier-Gorlin syndrome 3
- p.Asp225= Multiple submitters Meier-Gorlin syndrome 3
- c.359+185A>T Single submitter
- c.360-197dup Single submitter
- c.*217C>T Single submitter Meier-Gorlin syndrome 3
- c.*479G>A Single submitter Meier-Gorlin syndrome 3
Benign/Likely benign 2
- c.66-19A>C Multiple submitters
- c.-47G>A Multiple submitters Meier-Gorlin syndrome 3
Likely benign 57
- p.Glu252= Multiple submitters
- p.Glu4= Multiple submitters
- p.Gly166= Multiple submitters
- p.Leu92= Multiple submitters
- c.195+10T>G Single submitter
- c.196-16G>C Single submitter
- c.196-20_196-17del Single submitter
- c.196-7T>C Single submitter
- c.360-11T>C Single submitter
- c.360-16del Single submitter
- c.449+12A>G Single submitter
- c.449+15A>G Single submitter
- c.449+19A>C Single submitter
- c.449+19A>T Single submitter
- c.450-18T>C Single submitter
- c.450-4G>T Single submitter
- c.450-9G>A Single submitter
- c.563-10C>T Single submitter
- c.563-16A>G Single submitter
- c.563-20C>G Single submitter
- c.631+17C>T Single submitter
- c.66-20C>T Single submitter
- p.Ala246= Single submitter
- p.Arg137= Single submitter
- p.Arg198Gln Single submitter Inborn genetic diseases
- p.Arg237= Single submitter
- p.Arg32= Single submitter
- p.Arg41His Single submitter Inborn genetic diseases
- p.Asp100= Single submitter
- p.Asp132= Single submitter
- p.Cys51= Single submitter
- p.Gln130= Single submitter
- p.Gly2= Single submitter
- p.Gly7Arg Single submitter Inborn genetic diseases
- p.Ile108= Single submitter
- p.Ile108Thr Single submitter Inborn genetic diseases
- p.Ile6= Single submitter
- p.Leu118= Single submitter
- p.Leu175= Single submitter
- p.Leu240= Single submitter
- p.Leu38= Single submitter
- p.Leu5= Single submitter
- p.Leu83= Single submitter
- p.Lys169= Single submitter
- p.Lys199= Single submitter
- p.Lys76= Single submitter
- p.Met218Ile Single submitter Inborn genetic diseases
- p.Pro18= Single submitter
- p.Pro219= Single submitter
- p.Ser165= Single submitter
- p.Ser3= Single submitter
- p.Ser47Asn Single submitter Inborn genetic diseases
- p.Ser57= Single submitter
- p.Ser81= Single submitter
- p.Thr42= Single submitter
- p.Val156= Single submitter
- p.Val186= Single submitter
Uncertain significance 83
- p.Ala10Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg8His Multiple submitters ⚠
- p.Arg8Leu Multiple submitters Inborn genetic diseases ⚠
- p.Gln130His Multiple submitters Meier-Gorlin syndrome 3 ⚠
- p.Ile69Met Multiple submitters Meier-Gorlin syndrome 3 ⚠
- p.Leu228Val Multiple submitters Meier-Gorlin syndrome 3 ⚠
- p.Leu92Pro Multiple submitters Inborn genetic diseases ⚠
- p.Met218Arg Multiple submitters Inborn genetic diseases ⚠
- p.Phe105Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro11Arg Multiple submitters Meier-Gorlin syndrome 3 ⚠
- p.Pro138Gln Multiple submitters Meier-Gorlin syndrome 3 ⚠
- p.Ser31Phe Multiple submitters Inborn genetic diseases
- p.Val167Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val186Phe Multiple submitters Inborn genetic diseases ⚠
- c.359+7G>A Single submitter
- c.360-16A>G Single submitter
- c.450-4G>A Single submitter Meier-Gorlin syndrome 3
- c.631+5G>A Single submitter
- c.631+6T>G Single submitter
- c.-19T>C Single submitter Meier-Gorlin syndrome 3
- c.*10C>G Single submitter Meier-Gorlin syndrome 3
- c.*115T>G Single submitter Meier-Gorlin syndrome 3
- c.*170C>G Single submitter Meier-Gorlin syndrome 3
- c.*232A>T Single submitter Meier-Gorlin syndrome 3
- c.*307A>G Single submitter Meier-Gorlin syndrome 3
- c.*363C>T Single submitter Meier-Gorlin syndrome 3
- c.*452C>T Single submitter Meier-Gorlin syndrome 3
- c.*517G>A Single submitter Meier-Gorlin syndrome 3
- c.*524A>G Single submitter Meier-Gorlin syndrome 3
- c.*582A>C Single submitter Meier-Gorlin syndrome 3
- c.*594A>G Single submitter Meier-Gorlin syndrome 3
- c.*598G>A Single submitter Meier-Gorlin syndrome 3
- c.*599GATA[10] Single submitter
- c.*599GATA[11] Single submitter
- c.*599GATA[13] Single submitter
- c.*621T>C Single submitter Meier-Gorlin syndrome 3
- c.*640G>A Single submitter Meier-Gorlin syndrome 3
- p.Ala102Thr Single submitter ⚠
- p.Ala114Thr Single submitter
- p.Ala144Thr Single submitter Meier-Gorlin syndrome 3 ⚠
- p.Ala194Pro Single submitter Inborn genetic diseases ⚠
- p.Ala244Gly Single submitter ⚠
- p.Ala244Val Single submitter Inborn genetic diseases ⚠
- p.Ala40Gly Single submitter ⚠
- p.Ala40Val Single submitter Inborn genetic diseases ⚠
- p.Arg12Pro Single submitter Inborn genetic diseases ⚠
- p.Arg137Gly Single submitter Inborn genetic diseases ⚠
- p.Arg174Gln Single submitter ⚠
- p.Arg198Trp Single submitter Meier-Gorlin syndrome 3 ⚠
- p.Arg29His Single submitter Inborn genetic diseases ⚠
- p.Arg41Ser Single submitter Inborn genetic diseases ⚠
- p.Arg65Lys Single submitter ⚠
- p.Asn95His Single submitter Inborn genetic diseases ⚠
- p.Asp157Gly Single submitter Inborn genetic diseases ⚠
- p.Asp173Glu Single submitter Inborn genetic diseases ⚠
- p.Asp64Glu Single submitter Inborn genetic diseases
- p.Cys51del Single submitter
- p.Gln127His Single submitter ⚠
- p.Gln129Leu Single submitter ⚠
- p.Glu211Gln Single submitter ⚠
- p.Glu216Lys Single submitter Inborn genetic diseases ⚠
- p.Gly166Ser Single submitter Inborn genetic diseases ⚠
- p.Ile203Leu Single submitter ⚠
- p.Ile6Met Single submitter Inborn genetic diseases ⚠
- p.Ile96Val Single submitter Inborn genetic diseases ⚠
- p.Leu101Val Single submitter Inborn genetic diseases ⚠
- p.Leu179Pro Single submitter Inborn genetic diseases ⚠
- p.Leu9Ile Single submitter Inborn genetic diseases ⚠
- p.Leu9Pro Single submitter ⚠
- p.Lys155Arg Single submitter ⚠
- p.Lys214Glu Single submitter ⚠
- p.Met113Ile Single submitter ⚠
- p.Met59Ile Single submitter ⚠
- p.Pro138Leu Single submitter ⚠
- p.Pro222Ser Single submitter Inborn genetic diseases ⚠
- p.Ser3Leu Single submitter ⚠
- p.Ser47Thr Single submitter ⚠
- p.Ser57Thr Single submitter Inborn genetic diseases ⚠
- p.Thr229Ala Single submitter ⚠
- p.Thr250Ala Single submitter Inborn genetic diseases ⚠
- p.Thr250Ile Single submitter Inborn genetic diseases ⚠
- p.Thr42Ser Single submitter Inborn genetic diseases ⚠
- p.Val215Leu Single submitter Inborn genetic diseases ⚠