| - GRCh37:
- Chr5:130535223
- GRCh38:
- Chr5:131199530
| LYRM7 | | Mitochondrial complex III deficiency nuclear type 1 | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525880
- GRCh38:
- Chr2:218661157
| BCS1L | D57G | Mitochondrial complex III deficiency nuclear type 1 | Likely pathogenic
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526625-219526626
- GRCh38:
- Chr2:218661902-218661903
| BCS1L | V202fs, V35fs, V82fs | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
| Likely pathogenic
(Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526209-219526210
- GRCh38:
- Chr2:218661486-218661487
| BCS1L | V135fs, V15fs | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
| Likely pathogenic
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526966
- GRCh38:
- Chr2:218662243
| BCS1L | C114*, C234*, C67* | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
| Likely pathogenic
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526497
- GRCh38:
- Chr2:218661774
| BCS1L | L159*, L39* | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
| Likely pathogenic
(Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526018-219526019
- GRCh38:
- Chr2:218661295-218661296
| BCS1L | H104fs | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
| Likely pathogenic
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219527310-219527311
- GRCh38:
- Chr2:218662587-218662588
| BCS1L | N100fs, N147fs, N267fs | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
| Likely pathogenic
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526543-219526544
- GRCh38:
- Chr2:218661820-218661821
| BCS1L | E175fs, E55fs, E8fs | Pili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Likely pathogenic
(Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526677
- GRCh38:
- Chr2:218661954
| BCS1L | | Mitochondrial complex III deficiency nuclear type 1 | Pathogenic
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219527632
- GRCh38:
- Chr2:218662909
| BCS1L | R139C, R306C, R186C | GRACILE syndrome, Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1,
not provided | Pathogenic/Likely pathogenic
(Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526575
- GRCh38:
- Chr2:218661852
| BCS1L | R185Q, R65Q, R18Q | not provided, Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome,
GRACILE syndrome | Uncertain significance
(Sep 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219528006
- GRCh38:
- Chr2:218663283
| BCS1L | R266Q, R219Q, R386Q | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome,
not provided | Uncertain significance
(Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526606
- GRCh38:
- Chr2:218661883
| BCS1L | Q75H, Q195H, Q28H | GRACILE syndrome, Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1,
not provided | Uncertain significance
(Jun 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526976
- GRCh38:
- Chr2:218662253
| BCS1L | S118G, S238G, S71G | Mitochondrial complex III deficiency nuclear type 1 | Pathogenic
(Oct 2, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr2:219527641
- GRCh38:
- Chr2:218662918
| BCS1L | F142L, F189L, F309L | not provided, Pili torti-deafness syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525916
- GRCh38:
- Chr2:218661193
| BCS1L | R69H | not provided, Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome,
GRACILE syndrome | Uncertain significance
(Feb 10, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219528067
- GRCh38:
- Chr2:218663344
| BCS1L | P240fs, P287fs, P407fs | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
| Uncertain significance
(Jul 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525903
- GRCh38:
- Chr2:218661180
| BCS1L | S65R | not specified, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome,
Pili torti-deafness syndrome | Uncertain significance
(Jan 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219527633
- GRCh38:
- Chr2:218662910
| BCS1L | R139H, R186H, R306H | not provided, GRACILE syndrome, Pili torti-deafness syndrome,
Mitochondrial complex III deficiency nuclear type 1 | Pathogenic/Likely pathogenic
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526960
- GRCh38:
- Chr2:218662237
| BCS1L | G113fs, G233fs, G66fs | Inborn genetic diseases, Pili torti-deafness syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1, not provided | Pathogenic/Likely pathogenic
(Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219524431
- GRCh38:
- Chr2:218659708
| BCS1L, LOC129935609 | | GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome,
GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome
| Uncertain significance
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526587
- GRCh38:
- Chr2:218661864
| BCS1L | N69S, N189S, N22S | GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526163
- GRCh38:
- Chr2:218661440
| BCS1L | R119* | not provided, Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1,
GRACILE syndrome | Pathogenic/Likely pathogenic
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526156
- GRCh38:
- Chr2:218661433
| BCS1L | | Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, Pili torti-deafness syndrome,
not provided | Likely benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526648
- GRCh38:
- Chr2:218661925
| BCS1L | | not provided, GRACILE syndrome, Pili torti-deafness syndrome,
Mitochondrial complex III deficiency nuclear type 1 | Likely benign
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526739
- GRCh38:
- Chr2:218662016
| BCS1L | | Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, Pili torti-deafness syndrome,
not provided | Benign
(Jun 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219527716
- GRCh38:
- Chr2:218662993
| BCS1L | V167I, V214I, V334I | GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome,
not specified, not provided | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219526238
- GRCh38:
- Chr2:218661515
| BCS1L | R144*, R24* | not provided, GRACILE syndrome, Pili torti-deafness syndrome,
Mitochondrial complex III deficiency nuclear type 1 | Pathogenic/Likely pathogenic
(Feb 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525978
- GRCh38:
- Chr2:218661255
| BCS1L | R90C | not provided, Mitochondrial complex III deficiency nuclear type 1, Intellectual disability
| Conflicting interpretations of pathogenicity
(Oct 22, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525927
- GRCh38:
- Chr2:218661204
| BCS1L | R73C | not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Conflicting interpretations of pathogenicity
(Oct 30, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525844
- GRCh38:
- Chr2:218661121
| BCS1L | R45H | not provided, Pili torti-deafness syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity
(Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219524871
- GRCh38:
- Chr2:218660148
| BCS1L | | not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Conflicting interpretations of pathogenicity
(Jun 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219526278
- GRCh38:
- Chr2:218661555
| BCS1L | | Pili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
not provided, not specified | Likely benign
(Jun 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219527284
- GRCh38:
- Chr2:218662561
| BCS1L | | not specified, not provided, GRACILE syndrome,
Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity
(Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219527701
- GRCh38:
- Chr2:218662978
| BCS1L | M329V, M209V, M162V | not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
Pili torti-deafness syndrome | Uncertain significance
(Feb 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526193
- GRCh38:
- Chr2:218661470
| BCS1L | G129R, G9R | Leigh syndrome, not provided, Mitochondrial complex III deficiency nuclear type 1
| Pathogenic/Likely pathogenic
(Aug 20, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525881
- GRCh38:
- Chr2:218661158
| BCS1L | | not provided, GRACILE syndrome, not specified,
Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219526966
- GRCh38:
- Chr2:218662243
| BCS1L | | not provided, not specified, GRACILE syndrome,
Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1 | Likely benign
(Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526619
- GRCh38:
- Chr2:218661896
| BCS1L | R200*, R80*, R33* | Pili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
not provided | Pathogenic/Likely pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525955
- GRCh38:
- Chr2:218661232
| BCS1L | S82* | not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Pathogenic/Likely pathogenic
(Sep 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219527403
- GRCh38:
- Chr2:218662680
| BCS1L | | not provided, GRACILE syndrome, GRACILE syndrome,
Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1 | Pathogenic/Likely pathogenic
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr5:132204448
- GRCh38:
- Chr5:132868756
| UQCRQ | | Mitochondrial complex III deficiency nuclear type 1 | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr5:132202361
- GRCh38:
- Chr5:132866669
| LOC126807509, UQCRQ | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219527335
- GRCh38:
- Chr2:218662612
| BCS1L | | not specified, Leigh syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1, not provided | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219527281
- GRCh38:
- Chr2:218662558
| BCS1L | | Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
not provided | Conflicting interpretations of pathogenicity
(May 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219526117
- GRCh38:
- Chr2:218661394
| BCS1L | | Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525968
- GRCh38:
- Chr2:218661245
| BCS1L | | Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
not provided | Conflicting interpretations of pathogenicity
(Oct 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525822
- GRCh38:
- Chr2:218661099
| BCS1L | L38V | Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525697
- GRCh38:
- Chr2:218660974
| BCS1L | | not specified, Leigh syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219524924
- GRCh38:
- Chr2:218660201
| BCS1L | | Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
| Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219524891
- GRCh38:
- Chr2:218660168
| BCS1L | | Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Uncertain significance
(Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219524463
- GRCh38:
- Chr2:218659740
| BCS1L, LOC129935609 | | Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, Leigh syndrome
| Uncertain significance
(Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:15932722
- GRCh38:
- Chr17:16029408
| NCOR1, TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15932161
- GRCh38:
- Chr17:16028847
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15932132-15932133
- GRCh38:
- Chr17:16028818-16028819
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15932133
- GRCh38:
- Chr17:16028819
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15932132-15932133
- GRCh38:
- Chr17:16028818-16028819
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15932132-15932133
- GRCh38:
- Chr17:16028818-16028819
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15932132-15932133
- GRCh38:
- Chr17:16028818-16028819
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15932132-15932133
- GRCh38:
- Chr17:16028818-16028819
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15932131-15932132
- GRCh38:
- Chr17:16028817-16028818
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15932071-15932072
- GRCh38:
- Chr17:16028757-16028758
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Likely benign
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15931505-15931506
- GRCh38:
- Chr17:16028191-16028192
| TTC19, LOC130060312 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15931273
- GRCh38:
- Chr17:16027959
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15930748-15930750
- GRCh38:
- Chr17:16027434-16027436
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15903080
- GRCh38:
- Chr17:15999766
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1, Inborn genetic diseases | Uncertain significance
(Jun 6, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:15903022
- GRCh38:
- Chr17:15999708
| TTC19 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15902985
- GRCh38:
- Chr17:15999671
| TTC19, ZSWIM7 | | Mitochondrial complex III deficiency nuclear type 1, not specified | Conflicting interpretations of pathogenicity
(Jun 14, 2016) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:15902973
- GRCh38:
- Chr17:15999659
| LOC130060310, TTC19, ZSWIM7 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15902835
- GRCh38:
- Chr17:15999521
| TTC19, ZSWIM7 | R25Q | Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Apr 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:15902719
- GRCh38:
- Chr17:15999405
| LOC130060309, TTC19, ZSWIM7 | | Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr17:15902711
- GRCh38:
- Chr17:15999397
| LOC130060309, TTC19, ZSWIM7 | | not provided, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity
(Jul 9, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525911
- GRCh38:
- Chr2:218661188
| BCS1L | | not provided, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome,
GRACILE syndrome | Conflicting interpretations of pathogenicity
(Aug 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr8:97243310-97243313
- GRCh38:
- Chr8:96231082-96231085
| UQCRB | R105fs, R73fs | not provided | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:15903090
- GRCh38:
- Chr17:15999776
| TTC19 | | not provided, Mitochondrial complex III deficiency nuclear type 1 | Uncertain significance
(Jun 14, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526967
- GRCh38:
- Chr2:218662244
| BCS1L | G235R, G115R, G68R | not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Conflicting interpretations of pathogenicity
(Aug 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525979
- GRCh38:
- Chr2:218661256
| BCS1L | R90H | not provided, Mitochondrial complex III deficiency nuclear type 1 | Likely pathogenic
(Dec 12, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526520
- GRCh38:
- Chr2:218661797
| BCS1L | V167M, V47M | GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome,
not provided | Uncertain significance
(Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525915
- GRCh38:
- Chr2:218661192
| BCS1L | R69C | Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome,
GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Inborn genetic diseases,
not provided | Conflicting interpretations of pathogenicity
(Apr 26, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219526634
- GRCh38:
- Chr2:218661911
| BCS1L | V205I, V85I, V38I | Leigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
not specified, not provided, BCS1L-Related Disorders
| Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525836
- GRCh38:
- Chr2:218661113
| BCS1L | | not specified, not provided, Mitochondrial complex III deficiency nuclear type 1,
Leigh syndrome, GRACILE syndrome | Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525668
- GRCh38:
- Chr2:218660945
| BCS1L | | not specified, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1,
GRACILE syndrome | Conflicting interpretations of pathogenicity
(Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:15903056
- GRCh38:
- Chr17:15999742
| TTC19 | | not specified, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity
(Jun 14, 2016) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:15902994
- GRCh38:
- Chr17:15999680
| ZSWIM7, TTC19 | | not specified, Mitochondrial complex III deficiency nuclear type 1 | Benign/Likely benign
(Jun 14, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr17:15902823
- GRCh38:
- Chr17:15999509
| TTC19, ZSWIM7 | | not specified, Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity
(Jun 14, 2016) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:15902816
- GRCh38:
- Chr17:15999502
| TTC19, ZSWIM7 | | not specified, Mitochondrial complex III deficiency nuclear type 1 | Benign/Likely benign
(Jun 14, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219527866
- GRCh38:
- Chr2:218663143
| BCS1L | | not specified, not provided, Leigh syndrome,
GRACILE syndrome, Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219527739
- GRCh38:
- Chr2:218663016
| BCS1L | | Pili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
not specified, not provided | Benign/Likely benign
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219527712
- GRCh38:
- Chr2:218662989
| BCS1L | | not specified, not provided, Leigh syndrome,
GRACILE syndrome, Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526649
- GRCh38:
- Chr2:218661926
| BCS1L | D210N, D90N, D43N | Leigh syndrome, not specified, not provided,
GRACILE syndrome, Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1
| Benign/Likely benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219526568
- GRCh38:
- Chr2:218661845
| BCS1L | R183C, R63C, R16C | not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
| Conflicting interpretations of pathogenicity
(Jun 18, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219525858
- GRCh38:
- Chr2:218661135
| BCS1L | T50A | Mitochondrial complex III deficiency nuclear type 1 | Pathogenic
(Feb 1, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr2:219526571
- GRCh38:
- Chr2:218661848
| BCS1L | R184C, R64C, R17C | not provided, Leigh syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1 | Conflicting interpretations of pathogenicity
(Nov 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:219526569
- GRCh38:
- Chr2:218661846
| BCS1L | R183H, R63H, R16H | Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, Pili torti-deafness syndrome,
not provided, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
| Pathogenic
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525876
- GRCh38:
- Chr2:218661153
| BCS1L | R56* | BCS1L-Related Disorders, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
Pili torti-deafness syndrome, Leigh syndrome, not provided,
GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1 | Pathogenic
(Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219525843
- GRCh38:
- Chr2:218661120
| BCS1L | R45C | not provided | Pathogenic
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219525942
- GRCh38:
- Chr2:218661219
| BCS1L | S78G | GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome,
not provided, GRACILE syndrome | Pathogenic
(Dec 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:219527906
- GRCh38:
- Chr2:218663183
| BCS1L | V353M, V233M, V186M | not provided | Uncertain significance
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:219526485
- GRCh38:
- Chr2:218661762
| BCS1L | R155P, R35P | Mitochondrial complex III deficiency nuclear type 1 | Pathogenic
(Sep 1, 2001) | no assertion criteria provided |