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

Download:

Choose Destination

Search results

Items: 11

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr7:16255708
GRCh38:
Chr7:16216083
ISPD, ISPD-AS1not specifiedUncertain significance
(Feb 10, 2015)
criteria provided, single submitter
2.
GRCh37:
Chr7:16255722
GRCh38:
Chr7:16216097
ISPD, ISPD-AS1not specified, Congenital Muscular Dystrophy, alpha-dystroglycan relatedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
3.
GRCh37:
Chr7:16298592
GRCh38:
Chr7:16258967
ISPD, ISPD-AS1not specified, not providedUncertain significance
(Jul 6, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr7:16341073
GRCh38:
Chr7:16301448
ISPDnot specifiedUncertain significance
(Jul 27, 2016)
criteria provided, multiple submitters, no conflicts
5.
GRCh37:
Chr7:16348211
GRCh38:
Chr7:16308586
ISPDnot specified, Congenital Muscular Dystrophy, alpha-dystroglycan relatedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr7:16445813
GRCh38:
Chr7:16406188
ISPDnot specified, Congenital Muscular Dystrophy, alpha-dystroglycan relatedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr7:16445941-16445943
GRCh38:
Chr7:16406316-16406318
ISPDnot specified, Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7, Muscular dystrophy-dystroglycanopathy
Conflicting interpretations of pathogenicity
(Jun 15, 2016)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr7:16460722
GRCh38:
Chr7:16421097
ISPDnot specifiedUncertain significance
(Feb 1, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr7:16460783
GRCh38:
Chr7:16421158
ISPDMuscular dystrophy-dystroglycanopathyPathogenic
(Oct 11, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr7:16460893
GRCh38:
Chr7:16421268
ISPDnot specified, Congenital Muscular Dystrophy, alpha-dystroglycan relatedBenign
(Aug 24, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr7:16460916
GRCh38:
Chr7:16421291
ISPDnot specifiedLikely benign
(Jun 17, 2016)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by

Download:

Choose Destination
Support Center