Total 78 pathogenic variants reported for Pili torti-deafness syndrome 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu) SNV
Germline		 Chr2:218661283 Pathogenic Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Condition: not provided
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA117989 rs_121908572

5 SubmittersRCV000006539RCV000665386RCV001062637RCV003472985
NM_001079866.2(BCS1L):c.1057G>A (p.Val353Met) SNV
Germline		 Chr2:218663183 Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Pili torti-deafness syndrome		 Criteria Provided
Conflicting Classifications
 CA117999 rs_121908574

4 SubmittersRCV000006541RCV001851699RCV003472986RCV005016248
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly) SNV
Germline		 Chr2:218661219 Pathogenic GRACILE syndrome
Condition: not provided
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
BCS1L-related disorder
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118004 rs_28937590

15 SubmittersRCV000006542RCV000519547RCV000983982RCV002476936RCV004732532RCV003472987
NM_001079866.2(BCS1L):c.133C>T (p.Arg45Cys) SNV
Germline		 Chr2:218661120 Pathogenic/Likely pathogenic Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
Pili torti-deafness syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118010 rs_121908575

5 SubmittersRCV000006543RCV001851700RCV003472988RCV005025015
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter) SNV
Germline		 Chr2:218661153 Pathogenic Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
BCS1L-related disorder
GRACILE syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
Leigh syndrome
Pili torti-deafness syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
Autosomal recessive BCS1L-related disorders		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118015 rs_121908576

22 SubmittersRCV000006544RCV000195481RCV000260660RCV000576565RCV000763069RCV003472989RCV005016249RCV006554428
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His) SNV
Germline		 Chr2:218661846 Pathogenic Pili torti-deafness syndrome
Leigh syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118021 rs_121908577

7 SubmittersRCV000006545RCV000779835RCV001835622RCV002243624RCV002476937RCV002512833
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys) SNV
Germline		 Chr2:218661848 Pathogenic/Likely pathogenic BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
GRACILE syndrome
Pili torti-deafness syndrome
BCS1L-related disorder
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118026 rs_121908578

10 SubmittersRCV000006546RCV000034811RCV000384654RCV001142702RCV003472990RCV004532300RCV005016250
NM_001079866.2(BCS1L):c.547C>T (p.Arg183Cys) SNV
Germline		 Chr2:218661845 Pathogenic/Likely pathogenic Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
GRACILE syndrome
Pili torti-deafness syndrome
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA118041 rs_144885874

7 SubmittersRCV000006550RCV000521027RCV000674245RCV003472991RCV005025016
NM_001079866.2(BCS1L):c.320+1G>T SNV
Germline		 Chr2:218661308 Pathogenic/Likely pathogenic GRACILE syndrome
Condition: not provided
Inborn genetic diseases
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA144344 rs_386833856

8 SubmittersRCV000049825RCV000489556RCV002513688RCV003474632
NM_001079866.2(BCS1L):c.901T>A (p.Tyr301Asn) SNV
Germline		 Chr2:218662894 Pathogenic Pili torti-deafness syndrome No Assertion Criteria Provided
 CA151154 rs_587777278

1 SubmittersRCV000114392
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys) SNV
Germline		 Chr2:218661192 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial complex III deficiency nuclear type 1
Inborn genetic diseases
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA321501 rs_377025174

10 SubmittersRCV000197059RCV000415034RCV000623904RCV000675122RCV001810436RCV003474948
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp) SNV
Germline		 Chr2:218661410 Pathogenic/Likely pathogenic Condition: not provided
GRACILE syndrome
Pili torti-deafness syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324385 rs_141257714

5 SubmittersRCV000199842RCV003226245RCV003474949RCV005025315
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) SNV
Germline		 Chr2:218662661 Pathogenic/Likely pathogenic Condition: not provided
Pili torti-deafness syndrome
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA320362 rs_201454788

7 SubmittersRCV000195977RCV000586158RCV000675151RCV005016551
NM_001079866.2(BCS1L):c.703G>A (p.Gly235Arg) SNV
Germline		 Chr2:218662244 Conflicting classifications of pathogenicity Condition: not provided
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
not specified
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
GRACILE syndrome		 Criteria Provided
Conflicting Classifications
 CA2109732 rs_368486097

6 SubmittersRCV000255431RCV000670051RCV001329215RCV004800367RCV005025405
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter) SNV
Germline		 Chr2:218661232 Pathogenic GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
GRACILE syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16040859 rs_749196764

4 SubmittersRCV000410534RCV001334242RCV001218287RCV003475959RCV004796164
NM_001079866.2(BCS1L):c.349C>T (p.Arg117Ter) SNV
Germline		 Chr2:218661434 Pathogenic/Likely pathogenic GRACILE syndrome
Condition: not provided
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109652 rs_777735526

4 SubmittersRCV000409388RCV001357982RCV003475945
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter) SNV
Germline		 Chr2:218661854 Pathogenic GRACILE syndrome
Condition: not provided
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109694 rs_779331797

5 SubmittersRCV000409533RCV001050600RCV003475966
NM_001079866.2(BCS1L):c.889+1G>T SNV
Germline		 Chr2:218662680 Pathogenic/Likely pathogenic GRACILE syndrome
Condition: not provided
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
GRACILE syndrome
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16040864 rs_1057516346

5 SubmittersRCV000411192RCV000522697RCV002502421RCV003475942
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) SNV
Germline		 Chr2:218661896 Pathogenic/Likely pathogenic Mitochondrial complex III deficiency nuclear type 1
Condition: not provided
Pili torti-deafness syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109700 rs_776838028

5 SubmittersRCV000415338RCV000497971RCV002502446RCV003476004
NM_001079866.2(BCS1L):c.1036C>T (p.Arg346Ter) SNV
Germline		 Chr2:218663162 Likely pathogenic Pili torti-deafness syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
GRACILE syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109834 rs_550497120

4 SubmittersRCV004568535RCV000670083RCV005027806
NM_001079866.2(BCS1L):c.217C>T (p.Arg73Cys) SNV
Germline		 Chr2:218661204 Conflicting classifications of pathogenicity GRACILE syndrome
Condition: not provided
Pili torti-deafness syndrome		 Criteria Provided
Conflicting Classifications
 CA2109627 rs_140812286

6 SubmittersRCV000670706RCV001171821RCV005357893
NM_001079866.2(BCS1L):c.134G>A (p.Arg45His) SNV
Germline		 Chr2:218661121 Conflicting classifications of pathogenicity Condition: not provided
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
GRACILE syndrome
Pili torti-deafness syndrome		 Criteria Provided
Conflicting Classifications
 CA2109610 rs_754414354

5 SubmittersRCV001243753RCV001810474RCV006265191
NM_001079866.2(BCS1L):c.413C>T (p.Thr138Met) SNV
Germline		 Chr2:218661498 Conflicting classifications of pathogenicity GRACILE syndrome
Condition: not provided
not specified
Pili torti-deafness syndrome		 Criteria Provided
Conflicting Classifications
 CA2109660 rs_775793638

5 SubmittersRCV000666979RCV001855471RCV002282302RCV004568504
NM_001079866.2(BCS1L):c.268C>T (p.Arg90Cys) SNV
Germline		 Chr2:218661255 Pathogenic/Likely pathogenic Intellectual disability
Sparse hair
Severe intellectual disability
Movement disorder
Microcephaly
Sparse hair
Movement disorder
Microcephaly
Condition: not provided
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109634 rs_369691608

4 SubmittersRCV000850204RCV001003574RCV001003575RCV001855960RCV003472287
NM_001079866.2(BCS1L):c.518G>A (p.Gly173Asp) SNV
Germline		 Chr2:218661816 Conflicting classifications of pathogenicity Intellectual disability
Microcephaly
Sparse hair
Movement disorder
Severe intellectual disability
Microcephaly
Sparse hair
Movement disorder
Condition: not provided
Pili torti-deafness syndrome
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Conflicting Classifications
 CA65808955 rs_375876694

5 SubmittersRCV000850205RCV001003576RCV001003577RCV001869051RCV003472288RCV005021153
NM_001079866.2(BCS1L):c.430C>T (p.Arg144Ter) SNV
Germline		 Chr2:218661515 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
GRACILE syndrome
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350626644 rs_1443643776

3 SubmittersRCV000801104RCV002501070RCV004569575
NM_001079866.2(BCS1L):c.355C>T (p.Arg119Ter) SNV
Germline		 Chr2:218661440 Pathogenic/Likely pathogenic Condition: not provided
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109654 rs_770749420

5 SubmittersRCV001070513RCV002482133RCV003473699RCV005232111
NM_001079866.2(BCS1L):c.528G>A (p.Trp176Ter) SNV
Germline		 Chr2:218661826 Pathogenic/Likely pathogenic Condition: not provided
Pili torti-deafness syndrome
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109689 rs_762980642

3 SubmittersRCV001241843RCV003473822RCV005014297
NM_001079866.2(BCS1L):c.642G>A (p.Trp214Ter) SNV
Germline		 Chr2:218661940 Pathogenic/Likely pathogenic Condition: not provided
Pili torti-deafness syndrome
GRACILE syndrome
Clear cell carcinoma of kidney		 Criteria Provided
Multiple Submitters
No Conflicts
 CA65809086 rs_754414954

6 SubmittersRCV001382742RCV004570802RCV005408841RCV005911109
NM_001079866.2(BCS1L):c.336G>A (p.Trp112Ter) SNV
Germline		 Chr2:218661421 Pathogenic/Likely pathogenic Condition: not provided
Pili torti-deafness syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109648 rs_754934987

3 SubmittersRCV001384869RCV004570953RCV005023143
NM_001079866.2(BCS1L):c.463C>T (p.Arg155Ter) SNV
Germline		 Chr2:218661761 Pathogenic/Likely pathogenic Condition: not provided
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109683 rs_774688562

2 SubmittersRCV001386890RCV003473973
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His) SNV
Germline		 Chr2:218662910 Pathogenic/Likely pathogenic Condition: not provided
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350630753 rs_1280810181

4 SubmittersRCV001383887RCV002499798RCV003473948
NM_001079866.2(BCS1L):c.493A>T (p.Lys165Ter) SNV
Germline		 Chr2:218661791 Pathogenic/Likely pathogenic Condition: not provided
Pili torti-deafness syndrome
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350626981 rs_1559317208

3 SubmittersRCV001930487RCV003475165RCV005023443
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp) SNV
Germline		 Chr2:218661425 Pathogenic/Likely pathogenic Condition: not provided
Pili torti-deafness syndrome
Pili torti-deafness syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109649 rs_778769841

5 SubmittersRCV001950896RCV002300634RCV005016948
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys) SNV
Germline		 Chr2:218662909 Pathogenic/Likely pathogenic Condition: not provided
Pili torti-deafness syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350630751 rs_1197613485

4 SubmittersRCV001972684RCV002492132RCV003475238RCV005361873
NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter) SNV
Germline		 Chr2:218661776 Pathogenic/Likely pathogenic Condition: not provided
GRACILE syndrome
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109684 rs_373105002

3 SubmittersRCV002007515RCV003155444RCV003475210
NM_001079866.2(BCS1L):c.703G>C (p.Gly235Arg) SNV
Germline		 Chr2:218662244 Pathogenic/Likely pathogenic Condition: not provided
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
GRACILE syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA2109731 rs_368486097

2 SubmittersRCV001968114RCV005016914
NM_001079866.2(BCS1L):c.903C>A (p.Tyr301Ter) SNV
Germline		 Chr2:218662896 Pathogenic/Likely pathogenic Condition: not provided
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350630724 rs_1939635954

3 SubmittersRCV002042163RCV003475114
NM_001079866.2(BCS1L):c.476T>A (p.Leu159Ter) SNV
Unknown		 Chr2:218661774 Likely pathogenic GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome		 Criteria Provided
Single Submitter
 CA350626896 rs_2469879669

1 SubmittersRCV002308208
NM_001079866.2(BCS1L):c.702C>A (p.Cys234Ter) SNV
Unknown		 Chr2:218662243 Likely pathogenic GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome		 Criteria Provided
Single Submitter
 CA350628094 rs_140405116

1 SubmittersRCV002308350
NM_001079866.2(BCS1L):c.170A>G (p.Asp57Gly) SNV
Germline		 Chr2:218661157 Conflicting classifications of pathogenicity Mitochondrial complex III deficiency nuclear type 1
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
GRACILE syndrome		 Criteria Provided
Conflicting Classifications
 CA2109613 rs_368035069

2 SubmittersRCV002472026RCV005019215
NM_001079866.2(BCS1L):c.793C>T (p.Arg265Ter) SNV
Germline		 Chr2:218662583 Pathogenic/Likely pathogenic Condition: not provided
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350630271 rs_1939594732

2 SubmittersRCV002603583RCV003475513
NM_001079866.2(BCS1L):c.321-2A>G SNV
Germline		 Chr2:218661404 Likely pathogenic Neonatal encephalopathy
Pili torti-deafness syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350626223 rs_2469871803

2 SubmittersRCV003154308RCV003475536
NM_001079866.2(BCS1L):c.-50+326A>G SNV
Germline		 Chr2:218660069 Conflicting classifications of pathogenicity Pili torti-deafness syndrome
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
not specified		 Criteria Provided
Conflicting Classifications
 CA65807749 rs_745861723

3 SubmittersRCV003474339RCV005030052RCV004587501
NM_001079866.2(BCS1L):c.1076G>A (p.Trp359Ter) SNV
Unknown		 Chr2:218663202 Likely pathogenic Pili torti-deafness syndrome Criteria Provided
Single Submitter
 CA350631459 rs_2469897807

1 SubmittersRCV003474340
NM_001079866.2(BCS1L):c.580C>T (p.Gln194Ter) SNV
Germline		 Chr2:218661878 Likely pathogenic Pili torti-deafness syndrome
GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA350627403 rs_1939496203

2 SubmittersRCV003474342RCV005021990
NM_001079866.2(BCS1L):c.397G>T (p.Glu133Ter) SNV
Unknown		 Chr2:218661482 Likely pathogenic Pili torti-deafness syndrome Criteria Provided
Single Submitter
 CA350626528 rs_1559316590

1 SubmittersRCV003474343
NM_001079866.2(BCS1L):c.1156C>T (p.Arg386Ter) SNV
Unknown		 Chr2:218663282 Likely pathogenic Pili torti-deafness syndrome Criteria Provided
Single Submitter
 CA350632303 rs_2106332781

1 SubmittersRCV003474351
NM_001079866.2(BCS1L):c.1070C>A (p.Ser357Ter) SNV
Unknown		 Chr2:218663196 Likely pathogenic Pili torti-deafness syndrome Criteria Provided
Single Submitter
 CA350631404 rs_2469897768

1 SubmittersRCV003474352
NM_001079866.2(BCS1L):c.464G>A (p.Arg155Gln) SNV
Germline		 Chr2:218661762 Likely pathogenic Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1
Pili torti-deafness syndrome
GRACILE syndrome		 Criteria Provided
Multiple Submitters
No Conflicts
 rs_121908573

2 SubmittersRCV004575408RCV005023576
NM_001079866.2(BCS1L):c.1032G>A (p.Pro344=) SNV
Germline		 Chr2:218663158 Conflicting classifications of pathogenicity Pili torti-deafness syndrome
GRACILE syndrome
Mitochondrial complex III deficiency nuclear type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005018642RCV006489171
NM_001079866.2(BCS1L):c.1189C>T (p.Gln397Ter) SNV
Germline		 Chr2:218663315 Likely pathogenic GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005024081
NM_001079866.2(BCS1L):c.666C>G (p.Tyr222Ter) SNV
Germline		 Chr2:218662207 Likely pathogenic GRACILE syndrome
Pili torti-deafness syndrome
Mitochondrial complex III deficiency nuclear type 1		 Criteria Provided
Single Submitter

1 SubmittersRCV005018639
NM_001079866.2(BCS1L):c.902A>G (p.Tyr301Cys) SNV
Germline		 Chr2:218662895 Likely pathogenic Pili torti-deafness syndrome Criteria Provided
Single Submitter

1 SubmittersRCV005053020