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Items: 1 to 100 of 102

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:130535223
GRCh38:
Chr5:131199530
LYRM7Mitochondrial complex III deficiency nuclear type 1Pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr2:219525880
GRCh38:
Chr2:218661157
BCS1LD57GMitochondrial complex III deficiency nuclear type 1Likely pathogenic
(Feb 2, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr2:219526625-219526626
GRCh38:
Chr2:218661902-218661903
BCS1LV202fs, V35fs, V82fsPili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Likely pathogenic
(Dec 17, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr2:219526209-219526210
GRCh38:
Chr2:218661486-218661487
BCS1LV135fs, V15fsPili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Likely pathogenic
(May 27, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr2:219526966
GRCh38:
Chr2:218662243
BCS1LC114*, C234*, C67*Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Likely pathogenic
(Dec 2, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr2:219526497
GRCh38:
Chr2:218661774
BCS1LL159*, L39*Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Likely pathogenic
(Mar 9, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr2:219526018-219526019
GRCh38:
Chr2:218661295-218661296
BCS1LH104fsPili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Likely pathogenic
(Feb 25, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr2:219527310-219527311
GRCh38:
Chr2:218662587-218662588
BCS1LN100fs, N147fs, N267fsPili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Likely pathogenic
(Feb 25, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr2:219526543-219526544
GRCh38:
Chr2:218661820-218661821
BCS1LE175fs, E55fs, E8fsPili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Likely pathogenic
(Feb 19, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr2:219526677
GRCh38:
Chr2:218661954
BCS1LMitochondrial complex III deficiency nuclear type 1Pathogenic
(May 4, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:219527632
GRCh38:
Chr2:218662909
BCS1LR139C, R306C, R186CGRACILE 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
12.
GRCh37:
Chr2:219526575
GRCh38:
Chr2:218661852
BCS1LR185Q, R65Q, R18Qnot 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
13.
GRCh37:
Chr2:219528006
GRCh38:
Chr2:218663283
BCS1LR266Q, R219Q, R386QPili 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
14.
GRCh37:
Chr2:219526606
GRCh38:
Chr2:218661883
BCS1LQ75H, Q195H, Q28HGRACILE 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
15.
GRCh37:
Chr2:219526976
GRCh38:
Chr2:218662253
BCS1LS118G, S238G, S71GMitochondrial complex III deficiency nuclear type 1Pathogenic
(Oct 2, 2020)
no assertion criteria provided
16.
GRCh37:
Chr2:219527641
GRCh38:
Chr2:218662918
BCS1LF142L, F189L, F309Lnot 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
17.
GRCh37:
Chr2:219525916
GRCh38:
Chr2:218661193
BCS1LR69Hnot 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
18.
GRCh37:
Chr2:219528067
GRCh38:
Chr2:218663344
BCS1LP240fs, P287fs, P407fsPili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Uncertain significance
(Jul 22, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr2:219525903
GRCh38:
Chr2:218661180
BCS1LS65Rnot 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
20.
GRCh37:
Chr2:219527633
GRCh38:
Chr2:218662910
BCS1LR139H, R186H, R306Hnot 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
21.
GRCh37:
Chr2:219526960
GRCh38:
Chr2:218662237
BCS1LG113fs, G233fs, G66fsInborn 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
22.
GRCh37:
Chr2:219524431
GRCh38:
Chr2:218659708
BCS1LMitochondrial complex III deficiency nuclear type 1, Pili torti-deafness syndrome, GRACILE syndrome,
GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
Uncertain significance
(Feb 2, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr2:219526587
GRCh38:
Chr2:218661864
BCS1LN69S, N189S, N22SGRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr2:219526163
GRCh38:
Chr2:218661440
BCS1LR119*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
25.
GRCh37:
Chr2:219526156
GRCh38:
Chr2:218661433
BCS1LMitochondrial 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
26.
GRCh37:
Chr2:219526648
GRCh38:
Chr2:218661925
BCS1Lnot 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
27.
GRCh37:
Chr2:219526739
GRCh38:
Chr2:218662016
BCS1LMitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, Pili torti-deafness syndrome,
not provided
Benign
(Jun 10, 2021)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr2:219527716
GRCh38:
Chr2:218662993
BCS1LV167I, V214I, V334IGRACILE 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
29.
GRCh37:
Chr2:219526238
GRCh38:
Chr2:218661515
BCS1LR144*, 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
30.
GRCh37:
Chr2:219525978
GRCh38:
Chr2:218661255
BCS1LR90Cnot provided, Intellectual disability, Mitochondrial complex III deficiency nuclear type 1
Conflicting interpretations of pathogenicity
(Oct 22, 2021)
criteria provided, conflicting interpretations
31.
GRCh37:
Chr2:219525927
GRCh38:
Chr2:218661204
BCS1LR73Cnot provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Conflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
32.
GRCh37:
Chr2:219525844
GRCh38:
Chr2:218661121
BCS1LR45HPili torti-deafness syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
not provided
Conflicting interpretations of pathogenicity
(Sep 9, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr2:219524871
GRCh38:
Chr2:218660148
BCS1Lnot provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Conflicting interpretations of pathogenicity
(Jun 7, 2022)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr2:219526278
GRCh38:
Chr2:218661555
BCS1LPili 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
35.
GRCh37:
Chr2:219527284
GRCh38:
Chr2:218662561
BCS1Lnot 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
36.
GRCh37:
Chr2:219527701
GRCh38:
Chr2:218662978
BCS1LM329V, M209V, M162Vnot 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
37.
GRCh37:
Chr2:219526193
GRCh38:
Chr2:218661470
BCS1LG129R, G9Rnot provided, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
Pathogenic/Likely pathogenic
(Aug 20, 2023)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr2:219525881
GRCh38:
Chr2:218661158
BCS1Lnot 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
39.
GRCh37:
Chr2:219526966
GRCh38:
Chr2:218662243
BCS1Lnot specified, Pili torti-deafness syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1, not provided
Likely benign
(Jul 1, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:219526619
GRCh38:
Chr2:218661896
BCS1LR200*, 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
41.
GRCh37:
Chr2:219525955
GRCh38:
Chr2:218661232
BCS1LS82*not provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Pathogenic/Likely pathogenic
(Sep 25, 2022)
criteria provided, multiple submitters, no conflicts
42.
GRCh37:
Chr2:219527403
GRCh38:
Chr2:218662680
BCS1Lnot 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
43.
GRCh37:
Chr5:132204448
GRCh38:
Chr5:132868756
UQCRQMitochondrial complex III deficiency nuclear type 1Likely benign
(Jun 14, 2016)
criteria provided, single submitter
44.
GRCh37:
Chr5:132202361
GRCh38:
Chr5:132866669
LOC126807509, UQCRQMitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr2:219527335
GRCh38:
Chr2:218662612
BCS1Lnot 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
46.
GRCh37:
Chr2:219527281
GRCh38:
Chr2:218662558
BCS1LLeigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
not provided
Conflicting interpretations of pathogenicity
(May 27, 2022)
criteria provided, conflicting interpretations
47.
GRCh37:
Chr2:219526117
GRCh38:
Chr2:218661394
BCS1LLeigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr2:219525968
GRCh38:
Chr2:218661245
BCS1LLeigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1,
not provided
Conflicting interpretations of pathogenicity
(Oct 23, 2022)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr2:219525822
GRCh38:
Chr2:218661099
BCS1LL38VLeigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr2:219525697
GRCh38:
Chr2:218660974
BCS1Lnot specified, Leigh syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr2:219524924
GRCh38:
Chr2:218660201
BCS1LLeigh syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr2:219524891
GRCh38:
Chr2:218660168
BCS1LLeigh syndrome, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Uncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:219524463
GRCh38:
Chr2:218659740
BCS1LGRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1
Uncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr17:15932722
GRCh38:
Chr17:16029408
NCOR1, TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr17:15932161
GRCh38:
Chr17:16028847
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr17:15932132-15932133
GRCh38:
Chr17:16028818-16028819
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr17:15932133
GRCh38:
Chr17:16028819
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
58.
GRCh37:
Chr17:15932132-15932133
GRCh38:
Chr17:16028818-16028819
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr17:15932132-15932133
GRCh38:
Chr17:16028818-16028819
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr17:15932132-15932133
GRCh38:
Chr17:16028818-16028819
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
61.
GRCh37:
Chr17:15932132-15932133
GRCh38:
Chr17:16028818-16028819
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
62.
GRCh37:
Chr17:15932131-15932132
GRCh38:
Chr17:16028817-16028818
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr17:15932071-15932072
GRCh38:
Chr17:16028757-16028758
TTC19Mitochondrial complex III deficiency nuclear type 1Likely benign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr17:15931505-15931506
GRCh38:
Chr17:16028191-16028192
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
65.
GRCh37:
Chr17:15931273
GRCh38:
Chr17:16027959
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
66.
GRCh37:
Chr17:15930748-15930750
GRCh38:
Chr17:16027434-16027436
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr17:15903080
GRCh38:
Chr17:15999766
TTC19Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 6, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr17:15903022
GRCh38:
Chr17:15999708
TTC19Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr17:15902985
GRCh38:
Chr17:15999671
TTC19, ZSWIM7not specified, Mitochondrial complex III deficiency nuclear type 1Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
70.
GRCh37:
Chr17:15902973
GRCh38:
Chr17:15999659
TTC19, ZSWIM7Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr17:15902835
GRCh38:
Chr17:15999521
TTC19, ZSWIM7R25QInborn genetic diseases, Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Apr 6, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:15902719
GRCh38:
Chr17:15999405
TTC19, ZSWIM7Mitochondrial complex III deficiency nuclear type 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
73.
GRCh37:
Chr17:15902711
GRCh38:
Chr17:15999397
TTC19, ZSWIM7not provided, Mitochondrial complex III deficiency nuclear type 1Conflicting interpretations of pathogenicity
(Jul 9, 2018)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr2:219525911
GRCh38:
Chr2:218661188
BCS1Lnot provided, Leigh syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr8:97243310-97243313
GRCh38:
Chr8:96231082-96231085
UQCRBR105fs, R73fsnot providedConflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr17:15903090
GRCh38:
Chr17:15999776
TTC19Mitochondrial complex III deficiency nuclear type 1, not providedUncertain significance
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr2:219526967
GRCh38:
Chr2:218662244
BCS1LG235R, G115R, G68Rnot provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Conflicting interpretations of pathogenicity
(Aug 6, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr2:219525979
GRCh38:
Chr2:218661256
BCS1LR90Hnot provided, Mitochondrial complex III deficiency nuclear type 1Likely pathogenic
(Dec 12, 2019)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr2:219526520
GRCh38:
Chr2:218661797
BCS1LV167M, V47MGRACILE 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
80.
GRCh37:
Chr2:219525915
GRCh38:
Chr2:218661192
BCS1LR69CInborn genetic diseases, not provided, Pili torti-deafness syndrome,
Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1
Conflicting interpretations of pathogenicity
(Apr 26, 2023)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr2:219526634
GRCh38:
Chr2:218661911
BCS1LV205I, V85I, V38IBCS1L-Related Disorders, Mitochondrial complex III deficiency nuclear type 1, not specified,
not provided, Leigh syndrome, GRACILE syndrome
Conflicting interpretations of pathogenicity
(Nov 4, 2022)
criteria provided, conflicting interpretations
82.
GRCh37:
Chr2:219525836
GRCh38:
Chr2:218661113
BCS1Lnot specified, not provided, Leigh syndrome,
Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome
Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr2:219525668
GRCh38:
Chr2:218660945
BCS1Lnot specified, Leigh syndrome, Mitochondrial complex III deficiency nuclear type 1,
GRACILE syndrome
Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr17:15903056
GRCh38:
Chr17:15999742
TTC19Mitochondrial complex III deficiency nuclear type 1, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr17:15902994
GRCh38:
Chr17:15999680
TTC19, ZSWIM7not specified, Mitochondrial complex III deficiency nuclear type 1Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr17:15902823
GRCh38:
Chr17:15999509
TTC19, ZSWIM7not specified, Mitochondrial complex III deficiency nuclear type 1Conflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr17:15902816
GRCh38:
Chr17:15999502
TTC19, ZSWIM7not specified, Mitochondrial complex III deficiency nuclear type 1Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr2:219527866
GRCh38:
Chr2:218663143
BCS1Lnot 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
89.
GRCh37:
Chr2:219527739
GRCh38:
Chr2:218663016
BCS1LPili 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
90.
GRCh37:
Chr2:219527712
GRCh38:
Chr2:218662989
BCS1Lnot 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
91.
GRCh37:
Chr2:219526649
GRCh38:
Chr2:218661926
BCS1LD210N, D90N, D43NLeigh 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
92.
GRCh37:
Chr2:219526568
GRCh38:
Chr2:218661845
BCS1LR183C, R63C, R16Cnot provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Conflicting interpretations of pathogenicity
(Jun 18, 2022)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr2:219525858
GRCh38:
Chr2:218661135
BCS1LT50AMitochondrial complex III deficiency nuclear type 1Pathogenic
(Feb 1, 2009)
no assertion criteria provided
94.
GRCh37:
Chr2:219526571
GRCh38:
Chr2:218661848
BCS1LR184C, R64C, R17Cnot provided, Leigh syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1
Conflicting interpretations of pathogenicity
(Nov 2, 2022)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr2:219526569
GRCh38:
Chr2:218661846
BCS1LR183H, R63H, R16HMitochondrial 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
96.
GRCh37:
Chr2:219525876
GRCh38:
Chr2:218661153
BCS1LR56*BCS1L-Related Disorders, Pili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1,
Leigh syndrome, GRACILE syndrome, not provided,
GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1, See cases
Pathogenic
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr2:219525843
GRCh38:
Chr2:218661120
BCS1LR45Cnot providedPathogenic
(Sep 1, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr2:219525942
GRCh38:
Chr2:218661219
BCS1LS78GGRACILE 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
99.
GRCh37:
Chr2:219527906
GRCh38:
Chr2:218663183
BCS1LV353M, V233M, V186Mnot providedUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr2:219526485
GRCh38:
Chr2:218661762
BCS1LR155P, R35PMitochondrial complex III deficiency nuclear type 1Pathogenic
(Sep 1, 2001)
no assertion criteria provided
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