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Items: 20

VariationLocationGene(s)Condition(s)FrequencyClinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr4:15511840
GRCh38:
Chr4:15510217
CC2D2AMeckel syndrome type 6GO-ESP:0.00008(T)Likely pathogenicno assertion criteria provided
2.
GRCh37:
Chr4:15513014-15513016
GRCh38:
Chr4:15511391-15511393
CC2D2AMeckel syndrome type 6, not specifiedConflicting interpretations of pathogenicity
(Apr 26, 2013)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr4:15516446
GRCh38:
Chr4:15514823
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
4.
GRCh37:
Chr4:15529259
GRCh38:
Chr4:15527636
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
5.
GRCh37:
Chr4:15534886
GRCh38:
Chr4:15533263
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
6.
GRCh37:
Chr4:15554929
GRCh38:
Chr4:15553306
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
7.
GRCh37:
Chr4:15559074
GRCh38:
Chr4:15557451
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
8.
GRCh37:
Chr4:15565047
GRCh38:
Chr4:15563424
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
9.
GRCh37:
Chr4:15565108
GRCh38:
Chr4:15563485
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
10.
GRCh37:
Chr4:15569300
GRCh38:
Chr4:15567677
CC2D2AMeckel syndrome type 6, Joubert syndrome 9Pathogenic/Likely pathogenic
(Feb 23, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr4:15569352
GRCh38:
Chr4:15567729
CC2D2AMeckel syndrome type 6, Joubert syndrome 9Pathogenic/Likely pathogenic
(Feb 23, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr4:15570913
GRCh38:
Chr4:15569290
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
13.
GRCh37:
Chr4:15572047-15572048
GRCh38:
Chr4:15570424-15570425
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
14.
GRCh37:
Chr4:15572069
GRCh38:
Chr4:15570446
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
15.
GRCh37:
Chr4:15572109
GRCh38:
Chr4:15570486
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
16.
GRCh37:
Chr4:15581593
GRCh38:
Chr4:15579970
CC2D2AMeckel syndrome type 6, Joubert syndrome 9Pathogenic/Likely pathogenic
(Feb 23, 2015)
criteria provided, single submitter
17.
GRCh37:
Chr4:15581712
GRCh38:
Chr4:15580089
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
18.
GRCh37:
Chr4:15581798-15581801
GRCh38:
Chr4:15580175-15580178
CC2D2AMeckel syndrome type 6, Joubert syndrome 9Pathogenic/Likely pathogenic
(Feb 23, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr4:15589553
GRCh38:
Chr4:15587930
CC2D2AMeckel syndrome type 6, Joubert syndrome 9Pathogenic/Likely pathogenic
(Feb 23, 2015)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr4:15599090
GRCh38:
Chr4:15597467
CC2D2AMeckel syndrome type 6Likely pathogenicno assertion criteria provided
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