STAR — 437 ClinVar variants
All ClinVar germline STAR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 91 flagged for review →
42 Pathogenic · 16 Pathogenic/Likely pathogenic · 49 Likely pathogenic · 19 Conflicting · 9 Benign · 3 Benign/Likely benign · 173 Likely benign · 126 Uncertain significance
Full STAR gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 91
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.
-
STAR p.Arg192Cys
Pathogenic/Likely pathogenic
Multiple submitters
congenital lipoid adrenal hyperplasia due to STAR deficency
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
STAR p.Arg188His
Conflicting
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
Predictors lean, ClinVar uncertain 63
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
STAR p.Arg193Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAR p.Arg37Leu
Uncertain significance
Multiple submitters
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Arg53Gly
Uncertain significance
Multiple submitters
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Arg55Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAR p.Arg62Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAR p.Asp163Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAR p.Gln71Glu
Uncertain significance
Multiple submitters
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Leu178Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAR p.Lys162Gln
Uncertain significance
Multiple submitters
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Ser244Asn
Uncertain significance
Multiple submitters
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Ala280Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Ala283Val
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
- STAR p.Ala74Gly Uncertain significance Single submitter
-
STAR p.Arg140Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- STAR p.Arg182Pro Uncertain significance Single submitter
- STAR p.Arg272Pro Uncertain significance Single submitter
- STAR p.Arg272Ser Uncertain significance Single submitter
- STAR p.Arg37Gln Uncertain significance Single submitter
-
STAR p.Arg53Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Arg54Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Arg54Trp
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Arg55Gln
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Arg62Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Asn257His
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Asn50Lys
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Asn92Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Asp127Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Gln128Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Gln51Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Glu173Lys
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
- STAR p.Glu276Val Uncertain significance Single submitter
-
STAR p.Glu94Gly
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Glu94Lys
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Gly105Glu
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Gly117Ser
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Gly41Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- STAR p.Gly60Arg Uncertain significance Single submitter
-
STAR p.Gly60Ser
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.His168Gln
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
- STAR p.Ile166Val Uncertain significance Single submitter
-
STAR p.Ile255Val
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
- STAR p.Leu67Phe Uncertain significance Single submitter
-
STAR p.Leu67Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- STAR p.Leu73Pro Uncertain significance Single submitter
-
STAR p.Lys248Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Met17Thr
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Phe165Cys
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Pro181Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Ser110Arg
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Ser235Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Ser46Gly
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
- STAR p.Thr223Pro Uncertain significance Single submitter
-
STAR p.Thr240Met
Uncertain significance
Single submitter
Inborn genetic diseases
- STAR p.Thr44Ser Uncertain significance Single submitter
-
STAR p.Thr47Met
Uncertain significance
Single submitter
Inborn genetic diseases
- STAR p.Val108Met Uncertain significance Single submitter
-
STAR p.Arg272Gly
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Arg274Pro
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Arg54Leu
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Asp183Gly
Uncertain significance
No assertion criteria
STAR-related disorder
-
STAR p.Glu146Lys
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Gly42Val
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Thr44Asn
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
Predictors split 26
The independent predictors disagree with each other — read with care.
-
STAR p.Asn257Tyr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
STAR p.Gly221Ser
Pathogenic/Likely pathogenic
Multiple submitters
congenital lipoid adrenal hyperplasia due to STAR deficency
- STAR p.Lys248Arg Uncertain significance Multiple submitters
-
STAR p.Ser13Pro
Pathogenic/Likely pathogenic
Multiple submitters
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Val226Ala
Uncertain significance
Multiple submitters
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Arg121Trp
Conflicting
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Arg274Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Gly180Val
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Gly214Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.Gly232Arg
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Gly232Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
STAR p.His220Arg
Likely pathogenic
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
- STAR p.Leu137Phe Uncertain significance Single submitter
-
STAR p.Leu243Phe
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Met225Thr
Likely pathogenic
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
- STAR p.Phe184Ser Uncertain significance Single submitter
- STAR p.Thr263Ala Uncertain significance Single submitter
- STAR p.Val125Met Uncertain significance Single submitter
-
STAR p.Val198Ala
Uncertain significance
Single submitter
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Cys197Ser
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Gln78Lys
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Gly22Glu
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Leu271Val
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Met20Thr
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Ser12Arg
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
-
STAR p.Trp48Cys
Uncertain significance
No assertion criteria
congenital lipoid adrenal hyperplasia due to STAR deficency
All STAR variants
Pathogenic 42
- c.64+1G>T Multiple submitters STAR-related disorder
- p.Ala218Val Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg182Cys Multiple submitters STAR-related disorder
- p.Arg182His Multiple submitters STAR-related disorder
- p.Arg188Cys Multiple submitters STAR-related disorder
- p.Arg193Ter Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gln258Ter Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gln77Ter Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Glu136fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gly232fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Leu239fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Lys236fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Lys238fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Ser12fs Multiple submitters
- p.Thr240fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- c.306+1del Single submitter
- c.465+2T>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.65-12_68del Single submitter
- p.Arg182Leu Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gln158Ter Single submitter
- p.Gln25fs Single submitter
- p.Gln262fs Single submitter
- p.Gln26Ter Single submitter
- p.Leu133_Tyr134insTer Single submitter
- p.Leu133fs Single submitter
- p.Leu58fs Single submitter
- p.Lys107Ter Single submitter
- p.Lys213Ter Single submitter
- p.Lys21fs Single submitter
- p.Lys97fs Single submitter
- p.Pro210fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Pro43_Thr44insTer Single submitter
- p.Ser235fs Single submitter
- p.Ser32fs Single submitter
- p.Thr44fs Single submitter
- p.Trp147Ter Single submitter
- p.Trp241Ter Single submitter
- p.Trp250Ter Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Tyr134Ter Single submitter
- p.Tyr14Ter Single submitter
- c.178+2dup No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg217Thr No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency
Pathogenic/Likely pathogenic 16
- c.465+2T>C Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- c.64+1G>A Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg192Cys Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Arg272Cys Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gln101fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Glu169Lys Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gly221Ser Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Leu260Pro Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Leu271fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Leu275Pro Multiple submitters STAR-related disorder
- p.Met141fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Ser13Pro Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Ser46fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Trp48Ter Multiple submitters STAR-related disorder
- p.Val187Met Multiple submitters syndactyly-telecanthus-anogenital and renal malformations syndrome
- p.Val226fs Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
Likely pathogenic 49
- c.178+1G>C Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- c.306+1G>A Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- c.307-1G>C Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg182Ser Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg272His Multiple submitters STAR-related disorder
- p.Glu123Lys Multiple submitters STAR-related disorder
- c.179-2A>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.306+1G>T Single submitter
- c.307-1G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.466-3_466-1del Single submitter
- c.65-1G>T Single submitter STAR-related disorder
- c.650+1G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.650+2T>A Single submitter
- c.651-2A>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.744+1G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.745-1_745delinsAA Single submitter
- c.745-1_757del Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.745-1G>A Single submitter STAR-related disorder
- c.745-1G>C Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Ala218Thr Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg272fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Asn148Lys Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Asp183fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Cys224Ter Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gln33fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gln77fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Glu131fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Glu146Ter Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Glu169fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gly161fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.His168fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.His220Arg Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Leu157Pro Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Leu40fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Leu73fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Lys159Ter Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Lys248fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Met225Thr Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Phe184fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Ser91fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Thr204fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Trp241fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Trp96Ter Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Tyr68fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Val116fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Val28fs Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.64+2T>C No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency
- c.651-1G>C No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Ala268fs No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency
Conflicting classifications of pathogenicity 19
- c.178+7G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.178+9T>C Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.179-14G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.306+10G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.466-11T>C Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.466-5G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.650+13G>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg121Trp Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Arg188His Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Asn104= Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Asn36= Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gly161Arg Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.His168= Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Leu137= Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Leu59= Single submitter
- p.Lys98del Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Pro229= Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Ser186= Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.466-11T>A No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency
Benign 9
- c.465+20A>G Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- c.466-68C>A Multiple submitters
- c.65-64G>C Multiple submitters
- p.Leu63= Multiple submitters
- c.65-59del Single submitter
- c.744+212del Single submitter
- c.*1524A>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*987A>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gly145Arg Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
Benign/Likely benign 3
- c.466-15C>T Multiple submitters
- c.744+211_744+212del Multiple submitters
- p.Gln51= Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
Likely benign 173
- c.178+113C>T Multiple submitters
- c.306+54G>A Multiple submitters
- c.466-6T>C Multiple submitters
- c.64+7G>C Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- c.64+9T>C Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- c.744+18G>A Multiple submitters
- c.*456C>T Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg53Leu Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Asp246= Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.His220= Multiple submitters
- p.Lys253= Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Tyr134= Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- c.178+15T>C Single submitter
- c.178+17C>T Single submitter
- c.178+20G>T Single submitter
- c.179-12C>T Single submitter
- c.179-14G>C Single submitter
- c.179-15C>T Single submitter
- c.179-4C>T Single submitter
- c.179-5T>C Single submitter
- c.179-7T>C Single submitter
- c.306+13G>A Single submitter
- c.306+13G>C Single submitter
- c.306+13G>T Single submitter
- c.306+9C>T Single submitter
- c.307-157G>A Single submitter
- c.307-20G>T Single submitter
- c.307-5G>A Single submitter
- c.307-6T>C Single submitter
- c.307-7C>T Single submitter
- c.307-8T>C Single submitter
- c.307-9C>A Single submitter
- c.307-9C>T Single submitter
- c.465+10G>A Single submitter
- c.465+14del Single submitter
- c.465+15G>A Single submitter
- c.465+17T>G Single submitter
- c.465+19C>T Single submitter
- c.465+8A>G Single submitter
- c.466-20G>C Single submitter
- c.466-4G>A Single submitter
- c.466-9del Single submitter
- c.64+10G>T Single submitter
- c.64+13G>A Single submitter
- c.64+14G>A Single submitter
- c.64+19A>C Single submitter
- c.64+19A>G Single submitter
- c.64+7G>A Single submitter
- c.64+9T>G Single submitter
- c.65-10C>A Single submitter
- c.65-10C>T Single submitter
- c.65-11C>G Single submitter
- c.65-14A>G Single submitter
- c.650+10G>C Single submitter
- c.650+16G>A Single submitter
- c.650+18C>T Single submitter
- c.650+20C>A Single submitter
- c.650+7C>A Single submitter
- c.650+7C>T Single submitter
- c.650+8G>A Single submitter
- c.650+8G>C Single submitter
- c.650+8G>T Single submitter
- c.650+95C>G Single submitter
- c.650+9G>A Single submitter
- c.651-10C>T Single submitter
- c.651-19T>G Single submitter
- c.651-5G>A Single submitter
- c.651-7T>C Single submitter
- c.744+12G>A Single submitter
- c.744+15A>G Single submitter
- c.744+16G>C Single submitter
- c.744+19G>A Single submitter
- c.744+20G>C Single submitter
- c.744+7G>A Single submitter
- c.744+8del Single submitter
- c.745-12C>T Single submitter
- c.745-16C>T Single submitter
- c.745-17C>A Single submitter
- c.745-19C>G Single submitter
- c.745-6C>T Single submitter
- c.745-9C>T Single submitter
- p.Ala10= Single submitter
- p.Ala143= Single submitter
- p.Ala172= Single submitter
- p.Ala190= Single submitter
- p.Ala200= Single submitter
- p.Ala231= Single submitter
- p.Ala30= Single submitter
- p.Ala74= Single submitter
- p.Ala86= Single submitter
- p.Arg18= Single submitter
- p.Arg192= Single submitter
- p.Arg274His Single submitter Inborn genetic diseases
- p.Arg38= Single submitter
- p.Arg53= Single submitter
- p.Arg54= Single submitter
- p.Asn150= Single submitter
- p.Asn208= Single submitter
- p.Asp103= Single submitter
- p.Asp106= Single submitter
- p.Asp115= Single submitter
- p.Asp163= Single submitter
- p.Asp205= Single submitter
- p.Cys224= Single submitter
- p.Cys285= Single submitter
- p.Gln264= Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Gln84= Single submitter
- p.Glu131= Single submitter
- p.Glu219= Single submitter
- p.Glu34= Single submitter
- p.Glu80= Single submitter
- p.Glu94= Single submitter
- p.Gly105= Single submitter
- p.Gly11= Single submitter
- p.Gly145= Single submitter
- p.Gly176= Single submitter
- p.Gly201= Single submitter
- p.Gly207= Single submitter
- p.Gly42= Single submitter
- p.Gly79= Single submitter
- p.Gly95= Single submitter
- p.His270= Single submitter
- p.Ile160= Single submitter
- p.Ile245= Single submitter
- p.Ile255= Single submitter
- p.Ile31= Single submitter
- p.Leu133= Single submitter
- p.Leu157= Single submitter
- p.Leu170= Single submitter
- p.Leu199= Single submitter
- p.Leu2= Single submitter
- p.Leu230= Single submitter
- p.Leu239= Single submitter
- p.Leu251= Single submitter
- p.Leu40= Single submitter
- p.Leu58= Single submitter
- p.Leu67= Single submitter
- p.Leu73= Single submitter
- p.Leu87= Single submitter
- p.Leu90= Single submitter
- p.Lys118= Single submitter
- p.Lys191= Single submitter
- p.Lys236= Single submitter
- p.Lys273= Single submitter
- p.Lys85= Single submitter
- p.Lys97= Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Lys98= Single submitter
- p.Phe165= Single submitter
- p.Phe184= Single submitter
- p.Phe206= Single submitter
- p.Pro181= Single submitter
- p.Pro279= Single submitter
- p.Ser195= Single submitter
- p.Ser261= Single submitter
- p.Ser281= Single submitter
- p.Thr167= Single submitter
- p.Thr196= Single submitter
- p.Thr223= Single submitter
- p.Thr240= Single submitter
- p.Thr263= Single submitter
- p.Thr47= Single submitter
- p.Tyr14= Single submitter
- p.Tyr68= Single submitter
- p.Tyr75= Single submitter
- p.Val108= Single submitter
- p.Val124= Single submitter
- p.Val125= Single submitter
- p.Val151= Single submitter
- p.Val179= Single submitter
- p.Val185= Single submitter
- p.Val198= Single submitter
- p.Val259= Single submitter
- p.Val265= Single submitter
Uncertain significance 126
- c.*116T>G Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*88G>C Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg193Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg37Leu Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Arg53Gly Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Arg53Pro Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg55Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg62Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn257Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp163Val Multiple submitters Inborn genetic diseases ⚠
- p.Gln71Glu Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Leu178Val Multiple submitters Inborn genetic diseases ⚠
- p.Lys162Gln Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Lys248Arg Multiple submitters ⚠
- p.Ser244Asn Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Val226Ala Multiple submitters congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- c.64+5G>A Single submitter
- c.-16C>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.-70G>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*1122T>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*1472C>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*1473G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*1513C>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*1543C>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*1557A>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*187T>C Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*230A>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*348C>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*395G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*550A>C Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*556A>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*5C>T Single submitter
- c.*688C>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*698C>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*699C>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*768G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*796A>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*817C>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*818G>A Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*880C>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*897C>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*913C>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*930C>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*93C>T Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- c.*981A>G Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Ala280Thr Single submitter Inborn genetic diseases ⚠
- p.Ala283Val Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Ala74Gly Single submitter ⚠
- p.Arg121Leu Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg140Ser Single submitter Inborn genetic diseases ⚠
- p.Arg182Pro Single submitter ⚠
- p.Arg272Pro Single submitter ⚠
- p.Arg272Ser Single submitter ⚠
- p.Arg274Cys Single submitter Inborn genetic diseases ⚠
- p.Arg37Gln Single submitter ⚠
- p.Arg53Gln Single submitter Inborn genetic diseases ⚠
- p.Arg54Gln Single submitter Inborn genetic diseases ⚠
- p.Arg54Trp Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Arg55_Ser56insAsnGlnValArgArgArg Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Arg55Gln Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Arg62Gly Single submitter Inborn genetic diseases ⚠
- p.Asn257His Single submitter Inborn genetic diseases ⚠
- p.Asn50Lys Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Asn92Ile Single submitter Inborn genetic diseases ⚠
- p.Asp127Ala Single submitter Inborn genetic diseases ⚠
- p.Gln128Glu Single submitter Inborn genetic diseases ⚠
- p.Gln51Glu Single submitter Inborn genetic diseases ⚠
- p.Glu173Lys Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Glu276Val Single submitter ⚠
- p.Glu94Gly Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Glu94Lys Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Gly105Glu Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Gly117Ser Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Gly180Val Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Gly214Ala Single submitter Inborn genetic diseases ⚠
- p.Gly232Arg Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Gly232Glu Single submitter Inborn genetic diseases ⚠
- p.Gly41Arg Single submitter Inborn genetic diseases ⚠
- p.Gly60Arg Single submitter ⚠
- p.Gly60Ser Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.His168Gln Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Ile166Val Single submitter ⚠
- p.Ile255Val Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Leu137Phe Single submitter ⚠
- p.Leu243Phe Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Leu67Phe Single submitter ⚠
- p.Leu67Pro Single submitter Inborn genetic diseases ⚠
- p.Leu73Pro Single submitter ⚠
- p.Lys159del Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Lys21Asn Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Lys248Glu Single submitter Inborn genetic diseases ⚠
- p.Met17Thr Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Phe165Cys Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Phe184Ser Single submitter ⚠
- p.Pro181Ser Single submitter Inborn genetic diseases ⚠
- p.Ser110Arg Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Ser235Cys Single submitter Inborn genetic diseases ⚠
- p.Ser244Thr Single submitter Inborn genetic diseases
- p.Ser254= Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Ser46Gly Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Thr223Pro Single submitter ⚠
- p.Thr240Met Single submitter Inborn genetic diseases ⚠
- p.Thr263Ala Single submitter ⚠
- p.Thr44Ser Single submitter ⚠
- p.Thr47Met Single submitter Inborn genetic diseases ⚠
- p.Val108Met Single submitter ⚠
- p.Val125Met Single submitter ⚠
- p.Val198Ala Single submitter congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Arg272Gly No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Arg274Pro No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Arg54Leu No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Asn50_Val52del No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Asp183Gly No assertion criteria STAR-related disorder ⚠
- p.Cys197Ser No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Gln78Lys No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Glu146Lys No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Gly22Glu No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Gly42Val No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Ile166= No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Leu122= No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Leu271Val No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Lys162= No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency
- p.Met20Thr No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Ser12Arg No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Thr44Asn No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠
- p.Trp48Cys No assertion criteria congenital lipoid adrenal hyperplasia due to STAR deficency ⚠