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Items: 1 to 100 of 477

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
OTCOrnithine carbamoyltransferase deficiencyPathogenic
(Feb 1, 2002)
no assertion criteria provided
2.
OTCOrnithine carbamoyltransferase deficiencyPathogenic
(Feb 1, 2002)
no assertion criteria provided
3.
OTCOrnithine carbamoyltransferase deficiencyPathogenic
(Jun 1, 1991)
no assertion criteria provided
4.
OTCOrnithine carbamoyltransferase deficiencyPathogenic
(Jun 1, 1990)
no assertion criteria provided
5.
OTCOrnithine carbamoyltransferase deficiencyPathogenic
(Aug 1, 1990)
no assertion criteria provided
6.
GRCh37:
ChrX:38211585
GRCh38:
ChrX:38352332
OTCnot specifiedBenign
(Dec 2, 2015)
criteria provided, single submitter
7.
GRCh37:
ChrX:38211902
GRCh38:
ChrX:38352649
OTCOrnithine carbamoyltransferase deficiencyLikely benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
ChrX:38211946
GRCh38:
ChrX:38352693
OTCnot specifiedUncertain significance
(Jul 10, 2014)
criteria provided, single submitter
9.
GRCh37:
ChrX:38211950
GRCh38:
ChrX:38352697
OTCnot providedPathogenicno assertion criteria provided
10.
GRCh37:
ChrX:38211950
GRCh38:
ChrX:38352697
OTCnot providedPathogenicno assertion criteria provided
11.
GRCh37:
ChrX:38211951
GRCh38:
ChrX:38352698
OTCnot providedPathogenicno assertion criteria provided
12.
GRCh37:
ChrX:38211952
GRCh38:
ChrX:38352699
OTCnot providedPathogenicno assertion criteria provided
13.
GRCh37:
ChrX:38211977-38211980
GRCh38:
ChrX:38352724-38352727
OTCnot providedPathogenicno assertion criteria provided
14.
GRCh37:
ChrX:38211989
GRCh38:
ChrX:38352736
OTCnot providedPathogenicno assertion criteria provided
15.
GRCh37:
ChrX:38212002
GRCh38:
ChrX:38352749
OTCnot providedPathogenicno assertion criteria provided
16.
GRCh37:
ChrX:38212016
GRCh38:
ChrX:38352763
OTCnot providedPathogenicno assertion criteria provided
17.
GRCh37:
ChrX:38212021-38212044
GRCh38:
ChrX:38352768-38352791
OTCOrnithine carbamoyltransferase deficiencyPathogenic
(Jul 6, 2015)
no assertion criteria provided
18.
GRCh37:
ChrX:38212025
GRCh38:
ChrX:38352772
OTCOrnithine carbamoyltransferase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
19.
GRCh37:
ChrX:38212026
GRCh38:
ChrX:38352773
OTCnot providedPathogenicno assertion criteria provided
20.
GRCh37:
ChrX:38212026
GRCh38:
ChrX:38352773
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Jan 26, 2017)
no assertion criteria provided
21.
GRCh37:
ChrX:38212027
GRCh38:
ChrX:38352774
OTCnot providedPathogenicno assertion criteria provided
22.
GRCh37:
ChrX:38212027
GRCh38:
ChrX:38352774
OTCnot providedPathogenicno assertion criteria provided
23.
GRCh37:
ChrX:38212029-38212032
GRCh38:
ChrX:38352776-38352779
OTCnot providedPathogenicno assertion criteria provided
24.
GRCh37:
ChrX:38212030
GRCh38:
ChrX:38352777
OTCnot providedPathogenicno assertion criteria provided
25.
GRCh37:
ChrX:38212031
GRCh38:
ChrX:38352778
OTCnot providedPathogenicno assertion criteria provided
26.
GRCh37:
ChrX:38226541
GRCh38:
ChrX:38367288
OTCnot providedPathogenicno assertion criteria provided
27.
GRCh37:
ChrX:38226543
GRCh38:
ChrX:38367290
OTCnot providedPathogenicno assertion criteria provided
28.
GRCh37:
ChrX:38226553
GRCh38:
ChrX:38367300
OTCnot specifiedLikely benign
(Dec 21, 2016)
criteria provided, single submitter
29.
GRCh37:
ChrX:38226560
GRCh38:
ChrX:38367307
OTCnot providedPathogenicno assertion criteria provided
30.
GRCh37:
ChrX:38226572
GRCh38:
ChrX:38367319
OTCnot providedPathogenicno assertion criteria provided
31.
GRCh37:
ChrX:38226580
GRCh38:
ChrX:38367327
OTCnot specifiedLikely benign
(Mar 28, 2016)
criteria provided, single submitter
32.
GRCh37:
ChrX:38226581
GRCh38:
ChrX:38367328
OTCnot providedPathogenicno assertion criteria provided
33.
GRCh37:
ChrX:38226584
GRCh38:
ChrX:38367331
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Feb 1, 2001)
no assertion criteria provided
34.
GRCh37:
ChrX:38226585
GRCh38:
ChrX:38367332
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Oct 25, 2016)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
ChrX:38226588
GRCh38:
ChrX:38367335
OTCnot specifiedUncertain significance
(Apr 15, 2016)
criteria provided, single submitter
36.
GRCh37:
ChrX:38226588
GRCh38:
ChrX:38367335
OTCnot providedPathogenicno assertion criteria provided
37.
GRCh37:
ChrX:38226593
GRCh38:
ChrX:38367340
OTCnot providedPathogenicno assertion criteria provided
38.
GRCh37:
ChrX:38226597
GRCh38:
ChrX:38367344
OTCnot providedPathogenicno assertion criteria provided
39.
GRCh37:
ChrX:38226599
GRCh38:
ChrX:38367346
OTCnot providedPathogenicno assertion criteria provided
40.
GRCh37:
ChrX:38226600
GRCh38:
ChrX:38367347
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Jan 26, 2017)
no assertion criteria provided
41.
GRCh37:
ChrX:38226601
GRCh38:
ChrX:38367348
OTCnot providedPathogenicno assertion criteria provided
42.
GRCh37:
ChrX:38226603
GRCh38:
ChrX:38367350
OTCOrnithine carbamoyltransferase deficiency, ORNITHINE TRANSCARBAMYLASE POLYMORPHISM, not specified
Benign/Likely benign
(Feb 1, 2017)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
ChrX:38226606-38226607
GRCh38:
ChrX:38367353-38367354
OTCnot providedPathogenicno assertion criteria provided
44.
GRCh37:
ChrX:38226606
GRCh38:
ChrX:38367353
OTCnot providedPathogenicno assertion criteria provided
45.
GRCh37:
ChrX:38226606
GRCh38:
ChrX:38367353
OTCOrnithine carbamoyltransferase deficiency, not specified, not provided
Conflicting interpretations of pathogenicity
(Jun 23, 2016)
criteria provided, conflicting interpretations
46.
GRCh37:
ChrX:38226609
GRCh38:
ChrX:38367356
OTCnot providedPathogenicno assertion criteria provided
47.
GRCh37:
ChrX:38226611
GRCh38:
ChrX:38367358
OTCnot providedPathogenicno assertion criteria provided
48.
GRCh37:
ChrX:38226614
GRCh38:
ChrX:38367361
OTCnot providedPathogenicno assertion criteria provided
49.
GRCh37:
ChrX:38226614
GRCh38:
ChrX:38367361
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Jul 1, 1992)
no assertion criteria provided
50.
GRCh37:
ChrX:38226620
GRCh38:
ChrX:38367367
OTCnot providedPathogenicno assertion criteria provided
51.
GRCh37:
ChrX:38226620
GRCh38:
ChrX:38367367
OTCnot providedPathogenicno assertion criteria provided
52.
GRCh37:
ChrX:38226621
GRCh38:
ChrX:38367368
OTCnot providedPathogenicno assertion criteria provided
53.
GRCh37:
ChrX:38226622
GRCh38:
ChrX:38367369
OTCnot providedPathogenicno assertion criteria provided
54.
GRCh37:
ChrX:38226624
GRCh38:
ChrX:38367371
OTCnot providedPathogenicno assertion criteria provided
55.
GRCh37:
ChrX:38226624
GRCh38:
ChrX:38367371
OTCnot providedPathogenicno assertion criteria provided
56.
GRCh37:
ChrX:38226629
GRCh38:
ChrX:38367376
OTCnot providedPathogenicno assertion criteria provided
57.
GRCh37:
ChrX:38226633
GRCh38:
ChrX:38367380
OTCnot specified, not providedPathogenic/Likely pathogenic
(Feb 2, 2017)
criteria provided, single submitter
58.
GRCh37:
ChrX:38226636
GRCh38:
ChrX:38367383
OTCnot providedPathogenicno assertion criteria provided
59.
GRCh37:
ChrX:38226640
GRCh38:
ChrX:38367387
OTCnot providedPathogenicno assertion criteria provided
60.
GRCh37:
ChrX:38226645
GRCh38:
ChrX:38367392
OTCnot providedPathogenicno assertion criteria provided
61.
GRCh37:
ChrX:38226654
GRCh38:
ChrX:38367401
OTCnot providedPathogenicno assertion criteria provided
62.
GRCh37:
ChrX:38226666
GRCh38:
ChrX:38367413
OTCnot providedPathogenicno assertion criteria provided
63.
GRCh37:
ChrX:38226671
GRCh38:
ChrX:38367418
OTCnot providedPathogenicno assertion criteria provided
64.
GRCh37:
ChrX:38226683
GRCh38:
ChrX:38367430
OTCnot providedPathogenic
(Jan 15, 2016)
criteria provided, single submitter
65.
GRCh37:
ChrX:38226683
GRCh38:
ChrX:38367430
OTCnot providedPathogenicno assertion criteria provided
66.
GRCh37:
ChrX:38226683
GRCh38:
ChrX:38367430
OTCnot providedPathogenicno assertion criteria provided
67.
GRCh37:
ChrX:38226691
GRCh38:
ChrX:38367438
OTCOrnithine carbamoyltransferase deficiencyUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
68.
GRCh37:
ChrX:38229047
GRCh38:
ChrX:38369794
OTCnot providedPathogenic
(Nov 13, 2013)
criteria provided, single submitter
69.
GRCh37:
ChrX:38229048
GRCh38:
ChrX:38369795
OTCnot providedPathogenicno assertion criteria provided
70.
GRCh37:
ChrX:38229059
GRCh38:
ChrX:38369806
OTCnot providedPathogenicno assertion criteria provided
71.
GRCh37:
ChrX:38229063
GRCh38:
ChrX:38369810
OTCnot providedPathogenicno assertion criteria provided
72.
GRCh37:
ChrX:38229064
GRCh38:
ChrX:38369811
OTCnot providedPathogenicno assertion criteria provided
73.
GRCh37:
ChrX:38229068
GRCh38:
ChrX:38369815
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Feb 1, 2002)
no assertion criteria provided
74.
GRCh37:
ChrX:38229070
GRCh38:
ChrX:38369817
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Nov 5, 2012)
criteria provided, single submitter
75.
GRCh37:
ChrX:38229072
GRCh38:
ChrX:38369819
OTCnot providedPathogenicno assertion criteria provided
76.
GRCh37:
ChrX:38229075-38229077
GRCh38:
ChrX:38369822-38369824
OTCnot providedPathogenicno assertion criteria provided
77.
GRCh37:
ChrX:38229077
GRCh38:
ChrX:38369824
OTCnot providedPathogenicno assertion criteria provided
78.
GRCh37:
ChrX:38229079
GRCh38:
ChrX:38369826
OTCnot providedPathogenicno assertion criteria provided
79.
GRCh37:
ChrX:38229080
GRCh38:
ChrX:38369827
OTCnot providedPathogenicno assertion criteria provided
80.
GRCh37:
ChrX:38229086
GRCh38:
ChrX:38369833
OTCOrnithine carbamoyltransferase deficiencyLikely pathogenic
(Dec 7, 2015)
no assertion criteria provided
81.
GRCh37:
ChrX:38229091
GRCh38:
ChrX:38369838
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Jul 1, 1992)
no assertion criteria provided
82.
GRCh37:
ChrX:38229096
GRCh38:
ChrX:38369843
OTCnot providedPathogenicno assertion criteria provided
83.
GRCh37:
ChrX:38229100
GRCh38:
ChrX:38369847
OTCnot providedPathogenicno assertion criteria provided
84.
GRCh37:
ChrX:38229101
GRCh38:
ChrX:38369848
OTCnot providedPathogenicno assertion criteria provided
85.
GRCh37:
ChrX:38229102
GRCh38:
ChrX:38369849
OTCnot providedPathogenicno assertion criteria provided
86.
GRCh37:
ChrX:38229103
GRCh38:
ChrX:38369850
OTCnot providedPathogenicno assertion criteria provided
87.
GRCh37:
ChrX:38229106
GRCh38:
ChrX:38369853
OTCnot providedPathogenicno assertion criteria provided
88.
GRCh37:
ChrX:38229106
GRCh38:
ChrX:38369853
OTCnot providedPathogenicno assertion criteria provided
89.
GRCh37:
ChrX:38229107
GRCh38:
ChrX:38369854
OTCnot providedPathogenicno assertion criteria provided
90.
GRCh37:
ChrX:38229107
GRCh38:
ChrX:38369854
OTCnot providedPathogenicno assertion criteria provided
91.
GRCh37:
ChrX:38229107
GRCh38:
ChrX:38369854
OTCnot providedPathogenicno assertion criteria provided
92.
GRCh37:
ChrX:38229109
GRCh38:
ChrX:38369856
OTCnot providedPathogenicno assertion criteria provided
93.
GRCh37:
ChrX:38229113
GRCh38:
ChrX:38369860
OTCOrnithine carbamoyltransferase deficiency, not providedPathogenic
(Feb 1, 2002)
no assertion criteria provided
94.
GRCh37:
ChrX:38229116
GRCh38:
ChrX:38369863
OTCnot providedPathogenicno assertion criteria provided
95.
GRCh37:
ChrX:38229124
GRCh38:
ChrX:38369871
OTCnot providedPathogenicno assertion criteria provided
96.
GRCh37:
ChrX:38229131-38229135
GRCh38:
ChrX:38369878-38369882
OTCnot providedPathogenicno assertion criteria provided
97.
GRCh37:
ChrX:38229131
GRCh38:
ChrX:38369878
OTCnot providedPathogenic
(Apr 20, 2017)
criteria provided, single submitter
98.
GRCh37:
ChrX:38229131
GRCh38:
ChrX:38369878
OTCnot providedPathogenicno assertion criteria provided
99.
GRCh37:
ChrX:38229135
GRCh38:
ChrX:38369882
OTCOrnithine carbamoyltransferase deficiency, not specified, not provided
Conflicting interpretations of pathogenicity
(Aug 25, 2016)
criteria provided, conflicting interpretations
100.
GRCh37:
ChrX:38229139
GRCh38:
ChrX:38369886
OTCnot specifiedLikely benign
(Mar 29, 2016)
criteria provided, single submitter
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