Total 89 pathogenic variants reported for Congenital lipoid adrenal hyperplasia due to STAR deficency 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_000349.3(STAR):c.772C>T (p.Gln258Ter) SNV
Germline		 Chr8:38144359 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120034 rs_104894085

8 SubmittersRCV000009550RCV000809822
NM_000349.3(STAR):c.545G>T (p.Arg182Leu) SNV
Germline		 Chr8:38146068 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Single Submitter
 CA120036 rs_104894086

2 SubmittersRCV000009551RCV004700211
NM_000349.3(STAR):c.749G>A (p.Trp250Ter) SNV
Germline		 Chr8:38144382 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Single Submitter
 CA120037 rs_104894087

2 SubmittersRCV000009554RCV001046840
NM_000349.3(STAR):c.650G>C (p.Arg217Thr) SNV
Germline		 Chr8:38145963 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency No Assertion Criteria Provided
 CA120039 rs_137852689

1 SubmittersRCV000009555
NM_000349.3(STAR):c.653C>T (p.Ala218Val) SNV
Germline		 Chr8:38145313 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120040 rs_137852690

6 SubmittersRCV000009556RCV001388088
NM_000349.3(STAR):c.545G>A (p.Arg182His) SNV
Germline		 Chr8:38146068 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120041 rs_104894086

9 SubmittersRCV000009558RCV000518086
NM_000349.3(STAR):c.559G>A (p.Val187Met) SNV
Germline		 Chr8:38146054 Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided
Syndactyly-telecanthus-anogenital and renal malformations syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120043 rs_104894089

5 SubmittersRCV000009559RCV000811531RCV004566708
NM_000349.3(STAR):c.562C>T (p.Arg188Cys) SNV
Germline		 Chr8:38146051 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA120045 rs_104894090

11 SubmittersRCV000009560RCV000812202
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) SNV
Germline		 Chr6:32041006 Pathogenic/Likely pathogenic Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Condition: not provided
CYP21A2-related disorder
Congenital lipoid adrenal hyperplasia due to STAR deficency
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA341186 rs_6445

30 SubmittersRCV000012943RCV000711371RCV003924827RCV002288483RCV003985261
NM_000349.3(STAR):c.577C>T (p.Arg193Ter) SNV
Germline		 Chr8:38146036 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA129942 rs_387907235

4 SubmittersRCV000029206RCV001852577
NM_000349.3(STAR):c.466-5G>A SNV
Germline		 Chr8:38146152 Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency
not specified
Condition: not provided
STAR-related disorder		 Criteria Provided
Conflicting Classifications
 CA4715231 rs_375678713

5 SubmittersRCV000386225RCV000436485RCV000898475RCV004755903
NM_000349.3(STAR):c.361C>T (p.Arg121Trp) SNV
Germline		 Chr8:38146393 Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided
STAR-related disorder		 Criteria Provided
Conflicting Classifications
 CA4715265 rs_34908868

6 SubmittersRCV000296652RCV000762506RCV003932502
NM_000349.3(STAR):c.120G>A (p.Leu40=) SNV
Germline		 Chr8:38148699 Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided
not specified
STAR-related disorder		 Criteria Provided
Conflicting Classifications
 CA4715356 rs_138786388

7 SubmittersRCV000300389RCV000891942RCV001821104RCV003912553
NM_000349.3(STAR):c.178+9T>C SNV
Germline		 Chr8:38148632 Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided
STAR-related disorder		 Criteria Provided
Conflicting Classifications
 CA4715329 rs_777624416

3 SubmittersRCV000335570RCV001438234RCV003902416
NM_000349.3(STAR):c.504C>T (p.His168=) SNV
Germline		 Chr8:38146109 Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided
STAR-related disorder		 Criteria Provided
Conflicting Classifications
 CA4715222 rs_147138315

4 SubmittersRCV000290676RCV000901945RCV003922631
NM_000349.3(STAR):c.745-1G>C SNV
Germline		 Chr8:38144387 Likely pathogenic Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Single Submitter
 CA175091189 rs_374297649

2 SubmittersRCV000516306RCV001834677
NM_000349.3(STAR):c.505G>A (p.Glu169Lys) SNV
Germline		 Chr8:38146108 Pathogenic Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency
Syndactyly-telecanthus-anogenital and renal malformations syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715221 rs_747169620

4 SubmittersRCV000517184RCV000668944RCV004568660
NM_000349.3(STAR):c.779T>C (p.Leu260Pro) SNV
Germline		 Chr8:38144352 Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715129 rs_551783234

4 SubmittersRCV000668949RCV001390621
NM_000349.3(STAR):c.544C>T (p.Arg182Cys) SNV
Germline		 Chr8:38146069 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715217 rs_369232492

8 SubmittersRCV000665326RCV001211857
NM_000349.3(STAR):c.179-2A>G SNV
Unknown		 Chr8:38148329 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency No Assertion Criteria Provided
 CA370703298 rs_1554502986

1 SubmittersRCV000671263
NM_000349.3(STAR):c.178+1G>C SNV
Germline		 Chr8:38148640 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA370703433 rs_1554503011

3 SubmittersRCV000673860RCV003558526
NM_000349.3(STAR):c.651-1G>C SNV
Unknown		 Chr8:38145316 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency No Assertion Criteria Provided
 CA370697601 rs_749626865

1 SubmittersRCV000674443
NM_000349.3(STAR):c.574C>T (p.Arg192Cys) SNV
Germline		 Chr8:38146039 Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715213 rs_752311616

4 SubmittersRCV000666231RCV001855455
NM_000349.3(STAR):c.466-11T>A SNV
Germline		 Chr8:38146158 Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency No Assertion Criteria Provided
 CA658821506 rs_1053284504

2 SubmittersRCV000673944
NM_000349.3(STAR):c.814C>T (p.Arg272Cys) SNV
Germline		 Chr8:38144317 Pathogenic/Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715127 rs_751759820

3 SubmittersRCV000665602RCV001868205
NM_000349.3(STAR):c.229C>T (p.Gln77Ter) SNV
Germline		 Chr8:38148277 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715306 rs_781281145

4 SubmittersRCV000669222RCV001388089
NM_000349.3(STAR):c.64+2T>C SNV
Unknown		 Chr8:38150753 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency No Assertion Criteria Provided
 CA370705548 rs_1298369560

1 SubmittersRCV000674046
NM_000349.3(STAR):c.64+1G>T SNV
Germline		 Chr8:38150754 Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided
STAR-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715390 rs_765968701

7 SubmittersRCV000665946RCV000804772RCV003411572
NM_000349.3(STAR):c.661G>A (p.Gly221Ser) SNV
Germline		 Chr8:38145305 Pathogenic/Likely pathogenic Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715172 rs_139081695

6 SubmittersRCV000819131RCV001275354
NM_000349.3(STAR):c.687G>A (p.Pro229=) SNV
Germline		 Chr8:38145279 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA4715165 rs_35852516

3 SubmittersRCV000959024RCV001160264
NM_000349.3(STAR):c.141G>A (p.Thr47=) SNV
Germline		 Chr8:38148678 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA4715348 rs_147318238

4 SubmittersRCV000890105RCV001163949
NM_000349.3(STAR):c.481G>A (p.Gly161Arg) SNV
Germline		 Chr8:38146132 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA4715228 rs_188044385

4 SubmittersRCV000904441RCV001160266
NM_000349.3(STAR):c.306+10G>A SNV
Germline		 Chr8:38148190 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA4715287 rs_200480072

3 SubmittersRCV000905242RCV001163636
NM_000349.3(STAR):c.108C>T (p.Asn36=) SNV
Germline		 Chr8:38148711 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA4715361 rs_373945555

3 SubmittersRCV000942361RCV001163950
NM_000349.3(STAR):c.411C>T (p.Leu137=) SNV
Germline		 Chr8:38146343 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA4715255 rs_368559257

2 SubmittersRCV001431577RCV001163634
NM_000349.3(STAR):c.312T>C (p.Asn104=) SNV
Germline		 Chr8:38146442 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA4715270 rs_200934871

2 SubmittersRCV001455195RCV001163635
NM_000349.3(STAR):c.650+13G>T SNV
Germline		 Chr8:38145950 Conflicting classifications of pathogenicity Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA4715196 rs_377756089

2 SubmittersRCV001160265RCV003558729
NM_000349.3(STAR):c.179-14G>A SNV
Germline		 Chr8:38148341 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA4715317 rs_117578796

3 SubmittersRCV001354114RCV001163637
NM_000349.3(STAR):c.178+7G>A SNV
Germline		 Chr8:38148634 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA4715330 rs_376633284

2 SubmittersRCV001407453RCV001163946
NM_000349.3(STAR):c.824T>C (p.Leu275Pro) SNV
Germline		 Chr8:38144307 Pathogenic/Likely pathogenic Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715122 rs_762245736

2 SubmittersRCV001230692RCV001780166
NM_000349.3(STAR):c.307-1G>A SNV
Germline		 Chr8:38146448 Likely pathogenic Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Single Submitter
 CA370701282 rs_2130614519

2 SubmittersRCV001377697RCV001826129
NM_000349.3(STAR):c.144G>A (p.Trp48Ter) SNV
Germline		 Chr8:38148675 Pathogenic/Likely pathogenic Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA175097615 rs_749415045

2 SubmittersRCV001387587RCV005040261
NM_000349.3(STAR):c.64+1G>A SNV
Germline		 Chr8:38150754 Pathogenic/Likely pathogenic Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA370705553 rs_765968701

2 SubmittersRCV001383037RCV005040253
NM_000349.3(STAR):c.650+1G>A SNV
Germline		 Chr8:38145962 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency Criteria Provided
Single Submitter
 CA370698654 rs_1563267767

1 SubmittersRCV001783826
NM_000349.3(STAR):c.815G>A (p.Arg272His) SNV
Germline		 Chr8:38144316 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715126 rs_540090187

3 SubmittersRCV001810550RCV001869611
NM_000349.3(STAR):c.465+2T>C SNV
Germline		 Chr8:38146287 Pathogenic/Likely pathogenic Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715244 rs_777876822

2 SubmittersRCV001936563RCV005042543
NM_000349.3(STAR):c.558C>T (p.Ser186=) SNV
Germline		 Chr8:38146055 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA4715216 rs_757825631

2 SubmittersRCV002091877RCV005042737
NM_000349.3(STAR):c.466-11T>C SNV
Germline		 Chr8:38146158 Conflicting classifications of pathogenicity Condition: not provided
Congenital lipoid adrenal hyperplasia due to STAR deficency		 Criteria Provided
Conflicting Classifications
 CA175095989 rs_1053284504

2 SubmittersRCV002111612RCV005042726
NM_000349.3(STAR):c.436G>T (p.Glu146Ter) SNV
Unknown		 Chr8:38146318 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency Criteria Provided
Single Submitter
 CA370700195 rs_2487063127

1 SubmittersRCV002308119
NM_000349.3(STAR):c.475A>T (p.Lys159Ter) SNV
Unknown		 Chr8:38146138 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency Criteria Provided
Single Submitter
 CA370699820 rs_2487062310

1 SubmittersRCV002310274
NM_000349.3(STAR):c.306+1G>A SNV
Germline		 Chr8:38148199 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency
Condition: not provided
STAR-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA4715290 rs_755823086

3 SubmittersRCV002510254RCV002571585RCV004731276
NM_000349.3(STAR):c.674T>C (p.Met225Thr) SNV
Germline		 Chr8:38145292 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency Criteria Provided
Single Submitter
 CA370697291 rs_1446362214

1 SubmittersRCV003324354
NM_000349.3(STAR):c.544C>A (p.Arg182Ser) SNV
Germline		 Chr8:38146069 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency Criteria Provided
Multiple Submitters
No Conflicts
 rs_369232492

2 SubmittersRCV004586202
NM_000349.3(STAR):c.744+1G>A SNV
Germline		 Chr8:38145221 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency Criteria Provided
Single Submitter

1 SubmittersRCV005041171
NM_000349.3(STAR):c.652G>A (p.Ala218Thr) SNV
Germline		 Chr8:38145314 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency Criteria Provided
Single Submitter

1 SubmittersRCV005041174
NM_000349.3(STAR):c.651-2A>G SNV
Germline		 Chr8:38145317 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency Criteria Provided
Single Submitter

1 SubmittersRCV005051618
NM_000349.3(STAR):c.288G>A (p.Trp96Ter) SNV
Germline		 Chr8:38148218 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency Criteria Provided
Single Submitter

1 SubmittersRCV005041183
NM_000349.3(STAR):c.37T>C (p.Ser13Pro) SNV
Germline		 Chr8:38150782 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency No Assertion Criteria Provided

1 SubmittersRCV005611970
NM_000349.3(STAR):c.444C>A (p.Asn148Lys) SNV
Germline		 Chr8:38146310 Likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency No Assertion Criteria Provided

1 SubmittersRCV005611971