Sugi Variant

Sugi Variant/RORC

RORC — 337 ClinVar variants

All ClinVar germline RORC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 134 flagged for review →

9 Pathogenic · 3 Likely pathogenic · 6 Conflicting · 19 Benign · 9 Benign/Likely benign · 155 Likely benign · 136 Uncertain significance

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

⚑ Evidence disagreements 134

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 5

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 110

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 18

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

All RORC variants

Pathogenic 9

  • p.Arg228Ter Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg69fs Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg98Ter Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Glu271Ter Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Glu303fs Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Tyr330Ter Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gln329Ter No assertion criteria autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gln441Ter No assertion criteria autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser38Leu No assertion criteria autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

Likely pathogenic 3

  • c.934-1G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg389Ter Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Val331Met Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠

Conflicting classifications of pathogenicity 6

  • p.Ala63Val Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg10Ter Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg125Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg13Gln Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg232His Single submitter Inborn genetic diseases ⚠
  • p.Thr148Ala Single submitter Inborn genetic diseases ⚠

Benign 19

Benign/Likely benign 9

  • c.1067-4C>A Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.41-17C>T Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.70+19G>C Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.812-9C>T Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ala11= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ala464Gly Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Thr510= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Tyr330= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Val363= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

Likely benign 155

  • c.71-11C>T Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.811+18T>C Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.933+13G>A Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg208= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg237= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg288= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg80= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Asn445Ser Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu362= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Phe403= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser250Asn Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser38= Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1066+10G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1067-13C>T Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1174+15G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1174+15G>T Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1174+9del Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1175-5A>T Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1175-8T>C Single submitter
  • c.1285+12T>G Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1285+8T>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1286-10C>G Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1286-10C>T Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1286-11C>T Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1286-18T>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1286-5T>C Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1395+17G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1395+19G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1396-20C>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1396-4C>G Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.1396-8A>G Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.156+15T>C Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.156+17dup Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.156+20A>C Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.156+9T>C Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.157-10C>T Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.157-20C>G Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.298+13C>T Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.298+14G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.298+16_298+17del Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.298+20C>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.299-14T>C Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.299-16C>T Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.40+12A>G Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.40+15G>C Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.40+18dup Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.40+7G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.70+11G>C Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.70+12G>C Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.70+15C>T Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.70+16G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.811+12G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.811+9C>G Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.812-18T>C Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.933+10G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.933+18G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.934-19C>T Single submitter
  • c.934-4G>A Single submitter
  • c.934-6C>T Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.*10G>A Single submitter
  • p.Ala141= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ala357Val Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ala409= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ala449= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ala496= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ala63= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ala93= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg10= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg294= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg296= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg319= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg367= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg60= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg77= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Asn189= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Asn81= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Asp155= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Asp227= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Asp36= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Cys229= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Cys285= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Cys366= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Cys61= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Cys67= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gln124Arg Single submitter Inborn genetic diseases
  • p.Gln126= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gln157= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gln286= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gln329= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gln441= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gln443= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gln495= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Glu168= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Glu395= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Glu414= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Glu504= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gly104= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gly140= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gly143= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gly152= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gly221= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gly307= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gly35= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gly44= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Gly515= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.His236= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.His238= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.His479= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.His488= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ile46= Single submitter
  • p.Ile492= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu166= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu177= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu190= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu202= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu273= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu289= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu338= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu344= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu475= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu88= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Leu94= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Lys109= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Lys135= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Phe334= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Phe401= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Phe55= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Pro184= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Pro260= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Pro467= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Pro468= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser163= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser199= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser219= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser276= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser301= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser339= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser394= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser413= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser507= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser66= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ser97= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Thr146= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Thr225= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Thr284= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Thr306= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Thr325= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Thr375= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Tyr186= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Tyr204= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Tyr251= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Tyr281= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Tyr43= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Val118= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Val493= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency

Uncertain significance 136

  • p.Arg10Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg13Trp Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg208Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg237Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Arg257His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg288Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg82Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Asn373Ser Multiple submitters RORC-related disorder ⚠
  • p.Cys200Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Cys476Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gln157Lys Multiple submitters Inborn genetic diseases ⚠
  • p.Gln246Pro Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Glu435Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gly156Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Gly181Ala Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gly252Ser Multiple submitters Inborn genetic diseases ⚠
  • p.His22Tyr Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.His429Tyr Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.His85Tyr Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Leu483Val Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ser12Leu Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ser187Cys Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ser512Ter Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Thr136Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Thr375Met Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Val493Met Multiple submitters autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • c.1066+18G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.40+1G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.812-8G>A Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • c.821_933+84del Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ala141Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala141Val Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ala265Ser Single submitter Inborn genetic diseases ⚠
  • p.Ala335Ser Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ala335Thr Single submitter ⚠
  • p.Ala409Thr Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ala428= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Ala464Val Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ala497Thr Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ala497Val Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ala63Thr Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ala93Val Single submitter ⚠
  • p.Arg105Cys Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg125Trp Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg13= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Arg228Gln Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg232Cys Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg257Cys Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg288Trp Single submitter ⚠
  • p.Arg294Gln Single submitter Inborn genetic diseases ⚠
  • p.Arg294Trp Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg296His Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg302Gln Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg367Gly Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg374Cys Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg374His Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg3Lys Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg430Trp Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg473Trp Single submitter ⚠
  • p.Arg56Cys Single submitter Inborn genetic diseases ⚠
  • p.Arg60Ser Single submitter ⚠
  • p.Arg7Lys Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Arg80Gln Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Asn196His Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Asn196Ser Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Asp112Asn Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Asp165Gly Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Asp249Glu Single submitter Inborn genetic diseases ⚠
  • p.Asp76Asn Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Cys200Gly Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Cys229Tyr Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gln124Glu Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gln128Glu Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gln25Glu Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gln286His Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gln349Lys Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gln441His Single submitter ⚠
  • p.Gln443Pro Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gln59His Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Glu212Gln Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Glu212Lys Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Glu326Lys Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Glu416Gly Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Glu511Lys Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gly152Ala Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gly194Arg Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gly221Asp Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gly221Ser Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gly240Arg Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gly240Glu Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Gly384Ala Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.His272Tyr Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.His322Arg Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.His452Gln Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.His453Leu Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.His490Tyr Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.His9Arg Single submitter Inborn genetic diseases ⚠
  • p.Ile400Val Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ile417Phe Single submitter Inborn genetic diseases ⚠
  • p.Ile417Thr Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Leu423Val Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Lys311Gln Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Lys354= Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Lys381Ile Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Lys469Asn Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
  • p.Phe233Leu Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Phe486Ile Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Pro132Arg Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Pro132Ser Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Pro132Thr Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Pro137Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro167Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro173Ser Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Pro226His Single submitter Inborn genetic diseases ⚠
  • p.Pro239Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro260Leu Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Pro263Thr Single submitter Inborn genetic diseases ⚠
  • p.Pro5Arg Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Pro5fs Single submitter
  • p.Ser162Phe Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ser199Leu Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ser199Pro Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Ser339Pro Single submitter ⚠
  • p.Ser394Gly Single submitter ⚠
  • p.Ser398Thr Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Thr23Ala Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Thr259Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr268Arg Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Thr306Ile Single submitter Inborn genetic diseases ⚠
  • p.Thr306Ser Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Thr68Ile Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Tyr218Phe Single submitter Inborn genetic diseases ⚠
  • p.Tyr308Phe Single submitter Inborn genetic diseases ⚠
  • p.Val277Ile Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Val28Gly Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠
  • p.Val331Ala Single submitter autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency ⚠