S I D E B A R
Format
Items per page
Sort by

Download:

Choose Destination

Search results

Items: 35

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:65540853
GRCh38:
Chr7:66075866
ASLnot specifiedLikely benign
(Mar 14, 2016)
criteria provided, single submitter
2.
GRCh37:
Chr7:65541038
GRCh38:
Chr7:66076051
ASLArgininosuccinate lyase deficiency, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr7:65546812
GRCh38:
Chr7:66081825
ASLArgininosuccinate lyase deficiency, not providedPathogenic/Likely pathogenic
(Oct 31, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr7:65546939
GRCh38:
Chr7:66081952
ASLnot specifiedLikely benign
(Dec 23, 2016)
criteria provided, single submitter
5.
GRCh37:
Chr7:65546952
GRCh38:
Chr7:66081965
ASLArgininosuccinate lyase deficiency, not providedPathogenic/Likely pathogenic
(Sep 9, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr7:65546960
GRCh38:
Chr7:66081973
ASLnot specifiedLikely benign
(Aug 9, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr7:65547445
GRCh38:
Chr7:66082458
ASLnot specifiedLikely benign
(Feb 8, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr7:65547884
GRCh38:
Chr7:66082897
ASLnot specifiedLikely benign
(Sep 29, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr7:65547907
GRCh38:
Chr7:66082920
ASLnot specified, not providedConflicting interpretations of pathogenicity
(Jun 30, 2016)
criteria provided, conflicting interpretations
10.
GRCh37:
Chr7:65548107
GRCh38:
Chr7:66083120
ASLnot specifiedLikely benign
(Mar 24, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr7:65548114
GRCh38:
Chr7:66083127
ASLnot specifiedLikely benign
(Oct 3, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr7:65548162
GRCh38:
Chr7:66083175
ASLArgininosuccinate lyase deficiency, not providedPathogenic
(Nov 2, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr7:65551661
GRCh38:
Chr7:66086674
ASLnot specifiedLikely benign
(Jul 19, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr7:65551739-65551763
GRCh38:
Chr7:66086752-66086776
ASLnot providedPathogenic
(May 21, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr7:65551745
GRCh38:
Chr7:66086758
ASLnot providedLikely pathogenic
(Sep 30, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr7:65551750
GRCh38:
Chr7:66086763
ASLArgininosuccinate lyase deficiency, not providedPathogenic
(Mar 28, 2017)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr7:65551762
GRCh38:
Chr7:66086775
ASLnot specified, not providedBenign/Likely benign
(Jan 24, 2017)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr7:65551782
GRCh38:
Chr7:66086795
ASLnot specifiedBenign/Likely benign
(Oct 13, 2016)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr7:65551784
GRCh38:
Chr7:66086797
ASLnot providedPathogenic
(Nov 11, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr7:65552355
GRCh38:
Chr7:66087368
ASLnot providedPathogenic
(Apr 19, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr7:65552367
GRCh38:
Chr7:66087380
ASLnot providedPathogenic
(Sep 29, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr7:65552702
GRCh38:
Chr7:66087715
ASLnot specifiedLikely benign
(May 27, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr7:65552781
GRCh38:
Chr7:66087794
ASLnot specifiedLikely benign
(Nov 8, 2016)
criteria provided, single submitter
24.
GRCh37:
Chr7:65553912
GRCh38:
Chr7:66088925
ASLnot specifiedLikely benign
(Aug 19, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr7:65554083
GRCh38:
Chr7:66089096
ASLnot providedLikely pathogenic
(Jun 16, 2015)
criteria provided, single submitter
26.
GRCh37:
Chr7:65554101
GRCh38:
Chr7:66089114
ASLArgininosuccinate lyase deficiency, not providedPathogenic
(Jan 12, 2017)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr7:65554271
GRCh38:
Chr7:66089284
ASLnot specifiedLikely benign
(Aug 9, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr7:65554322
GRCh38:
Chr7:66089335
ASLnot providedLikely pathogenic
(Apr 20, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr7:65554337-65554339
GRCh38:
Chr7:66089350-66089352
ASLnot specifiedLikely benign
(Aug 10, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr7:65554337
GRCh38:
Chr7:66089350
ASLnot specifiedLikely benign
(Mar 24, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr7:65554665-65554677
GRCh38:
Chr7:66089678-66089690
ASLnot providedPathogenic
(Nov 11, 2016)
criteria provided, single submitter
32.
GRCh37:
Chr7:65554680
GRCh38:
Chr7:66089693
ASLArgininosuccinate lyase deficiency, not providedPathogenic
(Sep 9, 2016)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr7:65554698
GRCh38:
Chr7:66089711
ASLnot specifiedLikely benign
(Jul 28, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr7:65557065
GRCh38:
Chr7:66092078
ASLArgininosuccinate lyase deficiency, not providedPathogenic
(Jun 24, 2016)
criteria provided, single submitter
35.
GRCh37:
Chr7:65557086
GRCh38:
Chr7:66092099
ASLnot specifiedLikely benign
(Feb 22, 2016)
criteria provided, single submitter
Format
Items per page
Sort by

Download:

Choose Destination
Support Center