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

Download:

Choose Destination

Search results

Items: 6

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:47460306
GRCh38:
Chr11:47438755
RAPSNPena-Shokeir syndrome type I, not specified, Congenital Myasthenic Syndrome, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr11:47462716
GRCh38:
Chr11:47441165
RAPSNPena-Shokeir syndrome type I, not specified, Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency
Benign/Likely benign
(Nov 23, 2016)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr11:47463220
GRCh38:
Chr11:47441668
RAPSNPena-Shokeir syndrome type I, not specified, Congenital Myasthenic Syndrome, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr11:47464263
GRCh38:
Chr11:47442711
RAPSNnot specifiedUncertain significance
(Nov 9, 2015)
criteria provided, single submitter
5.
GRCh37:
Chr11:47469439
GRCh38:
Chr11:47447887
RAPSNPena-Shokeir syndrome type I, not specified, Congenital Myasthenic Syndrome, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
6.
GRCh37:
Chr11:47470345
GRCh38:
Chr11:47448793
RAPSNPena-Shokeir syndrome type I, not specified, Congenital Myasthenic Syndrome, Recessive
Benign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
Format
Items per page
Sort by

Download:

Choose Destination
Support Center