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Items: 1 to 100 of 116

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:219525711
GRCh38:
Chr2:218660988
BCS1LM1LGRACILE syndromeLikely pathogenic
(Aug 3, 2023)
criteria provided, single submitter
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
GRCh37:
Chr2:219528034
GRCh38:
Chr2:218663311
BCS1LV229fs, V276fs, V396fsGRACILE syndromeLikely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr2:219524378-219528167
BCS1LGRACILE syndromePathogenic
(Jun 1, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:219524846
GRCh38:
Chr2:218660123
BCS1LGRACILE syndromeUncertain significance
(Jan 28, 2022)
criteria provided, single submitter
12.
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
13.
GRCh37:
Chr2:219526499
GRCh38:
Chr2:218661776
BCS1LQ40*, Q160*GRACILE syndrome, not providedPathogenic/Likely pathogenic
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
14.
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
15.
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
16.
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
17.
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
18.
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
19.
GRCh37:
Chr2:219525029
GRCh38:
Chr2:218660306
BCS1Lnot providedBenign
(Jul 9, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr2:219526249
GRCh38:
Chr2:218661526
BCS1LGRACILE syndromePathogenic
(Apr 29, 2021)
no assertion criteria provided
21.
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
22.
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
23.
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
24.
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
25.
GRCh37:
Chr2:219524431
GRCh38:
Chr2:218659708
BCS1L, LOC129935609GRACILE 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
26.
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
27.
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
28.
GRCh37:
Chr2:219524854
GRCh38:
Chr2:218660131
BCS1LGRACILE syndromeLikely pathogenic
(May 28, 2019)
criteria provided, single submitter
29.
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
30.
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
31.
GRCh37:
Chr2:219527682
GRCh38:
Chr2:218662959
BCS1Lnot providedLikely benign
(Oct 20, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:219526633
GRCh38:
Chr2:218661910
BCS1Lnot providedLikely benign
(Oct 29, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr2:219526013
GRCh38:
Chr2:218661290
BCS1Lnot providedLikely benign
(Oct 4, 2022)
criteria provided, single submitter
34.
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
35.
GRCh37:
Chr2:219525067
GRCh38:
Chr2:218660344
BCS1Lnot providedLikely benign
(Jun 16, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr2:219525007
GRCh38:
Chr2:218660284
BCS1Lnot providedBenign
(Jun 14, 2018)
criteria provided, single submitter
37.
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
38.
GRCh37:
Chr2:219527288
GRCh38:
Chr2:218662565
BCS1LS139T, S259T, S92Tnot specified, not providedBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
39.
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
40.
GRCh37:
Chr2:219526206
GRCh38:
Chr2:218661483
BCS1LE13fs, E133fsBCS1L-Related Disorders, not providedConflicting interpretations of pathogenicity
(Oct 5, 2022)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr2:219526553
GRCh38:
Chr2:218661830
BCS1LF59fs, F179fs, F12fsGRACILE syndromeLikely pathogenic
(May 15, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr2:219526493
GRCh38:
Chr2:218661770
BCS1LA158fs, A38fsGRACILE syndromeLikely pathogenic
(May 15, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr2:219527976
GRCh38:
Chr2:218663253
BCS1LL376*, L256*, L209*GRACILE syndromeLikely pathogenic
(May 7, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr2:219528042-219528043
GRCh38:
Chr2:218663319-218663320
BCS1LGRACILE syndromeUncertain significance
(Apr 16, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr2:219526179-219526180
GRCh38:
Chr2:218661456-218661457
BCS1LD125fs, D5fsGRACILE syndromeLikely pathogenic
(Mar 5, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr2:219526269
GRCh38:
Chr2:218661546
BCS1LGRACILE syndromeLikely pathogenic
(Mar 8, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr2:219524467
GRCh38:
Chr2:218659744
BCS1L, LOC129935609GRACILE syndromeUncertain significance
(Jan 23, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr2:219525963-219525965
GRCh38:
Chr2:218661240-218661242
BCS1LQ85delnot provided, GRACILE syndromeUncertain significance
(Jan 14, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr2:219524468
GRCh38:
Chr2:218659745
BCS1L, LOC129935609GRACILE syndromeUncertain significance
(Jan 8, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr2:219527331
GRCh38:
Chr2:218662608
BCS1LP154fs, P274fs, P107fsnot provided, GRACILE syndromePathogenic/Likely pathogenic
(Jul 8, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr2:219525927
GRCh38:
Chr2:218661204
BCS1LR73Cnot provided, GRACILE syndrome, Mitochondrial complex III deficiency nuclear type 1
Conflicting interpretations of pathogenicity
(Oct 30, 2023)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr2:219527284
GRCh38:
Chr2:218662561
BCS1LD258fs, D138fs, D91fsnot provided, GRACILE syndromePathogenic/Likely pathogenic
(Mar 9, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr2:219526000-219526002
GRCh38:
Chr2:218661277-218661279
BCS1LV98delGRACILE syndromeUncertain significance
(Nov 2, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr2:219525763
GRCh38:
Chr2:218661040
BCS1LA18fsGRACILE syndromeLikely pathogenic
(Nov 1, 2017)
criteria provided, single submitter
55.
GRCh37:
Chr2:219524467
GRCh38:
Chr2:218659744
BCS1L, LOC129935609GRACILE syndromeUncertain significance
(Nov 1, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr2:219525844
GRCh38:
Chr2:218661121
BCS1LR45HPili torti-deafness syndrome, Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome,
not provided
Conflicting interpretations of pathogenicity
(Sep 9, 2022)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr2:219527885
GRCh38:
Chr2:218663162
BCS1LR346*, R226*, R179*GRACILE syndromeLikely pathogenic
(Oct 19, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr2:219527403-219527404
GRCh38:
Chr2:218662680-218662681
BCS1LGRACILE syndromeUncertain significance
(Oct 3, 2017)
criteria provided, single submitter
59.
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
60.
GRCh37:
Chr2:219527896-219527898
GRCh38:
Chr2:218663173-218663175
BCS1LK350del, K230del, K183delGRACILE syndromeUncertain significance
(May 12, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr2:219526221
GRCh38:
Chr2:218661498
BCS1LT138M, T18Mnot specified, not provided, GRACILE syndrome
Uncertain significance
(Apr 27, 2023)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr2:219526625-219526633
GRCh38:
Chr2:218661902-218661910
BCS1LGRACILE syndromeUncertain significance
(Mar 27, 2017)
criteria provided, single submitter
63.
GRCh37:
Chr2:219527722-219527725
GRCh38:
Chr2:218662999-218663002
BCS1LGRACILE syndromeLikely pathogenic
(Mar 24, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr2:219527403
GRCh38:
Chr2:218662680
BCS1LGRACILE syndromeLikely pathogenic
(Feb 22, 2017)
criteria provided, single submitter
65.
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
66.
GRCh37:
Chr2:219527683
GRCh38:
Chr2:218662960
BCS1LE323K, E203K, E156Knot providedUncertain significance
(Oct 6, 2016)
criteria provided, single submitter
67.
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
68.
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
69.
GRCh37:
Chr2:219526191
GRCh38:
Chr2:218661468
BCS1LT128M, T8Mnot providedUncertain significance
(Apr 18, 2017)
criteria provided, single submitter
70.
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
71.
GRCh37:
Chr2:219526966
GRCh38:
Chr2:218662243
BCS1Lnot 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
72.
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
73.
GRCh37:
Chr2:219526224
GRCh38:
Chr2:218661501
BCS1LL140fs, L20fsInborn genetic diseases, not provided, GRACILE syndrome
Pathogenic/Likely pathogenic
(Nov 5, 2020)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr2:219526577
GRCh38:
Chr2:218661854
BCS1LR186*, R66*, R19*not provided, GRACILE syndromePathogenic/Likely pathogenic
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:219526270
GRCh38:
Chr2:218661547
BCS1Lnot provided, GRACILE syndromeLikely pathogenic
(Dec 22, 2021)
criteria provided, multiple submitters, no conflicts
76.
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
77.
GRCh37:
Chr2:219526677
GRCh38:
Chr2:218661954
BCS1LGRACILE syndromeLikely pathogenic
(Apr 21, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr2:219528092-219528093
GRCh38:
Chr2:218663369-218663370
BCS1LE415fs, E295fs, E248fsGRACILE syndromeLikely pathogenic
(Apr 20, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr2:219527686-219527687
GRCh38:
Chr2:218662963-218662964
BCS1LR325fs, R158fs, R205fsGRACILE syndromeLikely pathogenic
(Feb 18, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr2:219526157
GRCh38:
Chr2:218661434
BCS1LR117*GRACILE syndrome, not providedPathogenic/Likely pathogenic
(Oct 16, 2021)
criteria provided, multiple submitters, no conflicts
81.
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
82.
GRCh37:
Chr2:219526627-219526628
GRCh38:
Chr2:218661904-218661905
BCS1LR83fs, R203fs, R36fsGRACILE syndrome, not providedPathogenic/Likely pathogenic
(Sep 29, 2020)
criteria provided, multiple submitters, no conflicts
83.
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
84.
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
85.
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
86.
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
87.
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
88.
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
89.
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
90.
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
91.
GRCh37:
Chr2:219524463
GRCh38:
Chr2:218659740
BCS1L, LOC129935609Mitochondrial complex III deficiency nuclear type 1, GRACILE syndrome, Leigh syndrome
Uncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr2:219525911
GRCh38:
Chr2:218661188
BCS1Lnot provided, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome,
GRACILE syndrome
Conflicting interpretations of pathogenicity
(Aug 1, 2023)
criteria provided, conflicting interpretations
93.
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
94.
GRCh37:
Chr2:219527681
GRCh38:
Chr2:218662958
BCS1LT322S, T202S, T155Snot providedUncertain significance
(Mar 25, 2023)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:219526133
GRCh38:
Chr2:218661410
BCS1LR109Wnot provided, GRACILE syndromePathogenic/Likely pathogenic
(Oct 4, 2023)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr2:219527384
GRCh38:
Chr2:218662661
BCS1LR291*, R171*, R124*BCS1L-Related Disorders, not provided, Pili torti-deafness syndrome,
GRACILE syndrome
Conflicting interpretations of pathogenicity
(Nov 14, 2022)
criteria provided, conflicting interpretations
97.
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
98.
GRCh37:
Chr2:219525915
GRCh38:
Chr2:218661192
BCS1LR69CGRACILE syndrome, Pili torti-deafness syndrome, GRACILE syndrome,
Mitochondrial complex III deficiency nuclear type 1, Inborn genetic diseases, Mitochondrial complex III deficiency nuclear type 1,
not provided
Conflicting interpretations of pathogenicity
(Apr 26, 2023)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr2:219526634
GRCh38:
Chr2:218661911
BCS1LV205I, V85I, V38Inot specified, not provided, GRACILE syndrome,
BCS1L-Related Disorders, Mitochondrial complex III deficiency nuclear type 1, Leigh syndrome
Conflicting interpretations of pathogenicity
(Nov 4, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr2:219525852
GRCh38:
Chr2:218661129
BCS1LM48Vnot specified, GRACILE syndrome, not provided
Conflicting interpretations of pathogenicity
(Jul 31, 2021)
criteria provided, conflicting interpretations
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