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Items: 15

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:51063477
GRCh38:
Chr22:50625049
ARSAMetachromatic leukodystrophy, Arylsulfatase A pseudodeficiency, not specified,
not provided
Conflicting interpretations of pathogenicity, other
(Oct 11, 2016)
criteria provided, conflicting interpretations
2.
GRCh37:
Chr22:51063685-51063695
GRCh38:
Chr22:50625257-50625267
ARSAMetachromatic leukodystrophyPathogenic
(Jun 13, 2014)
criteria provided, single submitter
3.
GRCh37:
Chr22:51063820
GRCh38:
Chr22:50625392
ARSAMetachromatic leukodystrophy, Metachromatic leukodystrophy, juvenile type, Metachromatic leukodystrophy, adult type,
Arylsulfatase a, allele a, not provided
Pathogenic
(Sep 2, 2016)
criteria provided, multiple submitters, no conflicts
4.
GRCh37:
Chr22:51063871
GRCh38:
Chr22:50625443
ARSAMetachromatic leukodystrophy, Metachromatic leukodystrophy, mildPathogenic
(Aug 25, 2011)
no assertion criteria provided
5.
GRCh37:
Chr22:51064006
GRCh38:
Chr22:50625578
ARSAMetachromatic leukodystrophy, Metachromatic leukodystrophy, juvenile typePathogenic
(Jun 13, 2014)
criteria provided, single submitter
6.
GRCh37:
Chr22:51064039
GRCh38:
Chr22:50625611
ARSAMetachromatic leukodystrophy, not specifiedConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretations
7.
GRCh37:
Chr22:51064416
GRCh38:
Chr22:50625988
ARSAMetachromatic leukodystrophy, ARYLSULFATASE A POLYMORPHISM, not specified,
not provided
Conflicting interpretations of pathogenicity, other
(Oct 11, 2016)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr22:51065104
GRCh38:
Chr22:50626676
ARSAMetachromatic leukodystrophy, not providedPathogenic
(Aug 2, 2016)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr22:51065134
GRCh38:
Chr22:50626706
ARSAMetachromatic leukodystrophy, Metachromatic leukodystrophy, severePathogenic
(May 29, 2014)
criteria provided, single submitter
10.
GRCh37:
Chr22:51065305
GRCh38:
Chr22:50626877
ARSAMetachromatic leukodystrophyPathogenic
(Aug 18, 2016)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr22:51065404
GRCh38:
Chr22:50626976
ARSAMetachromatic leukodystrophy, Metachromatic leukodystrophy, juvenile type, Metachromatic leukodystrophy, adult type
Pathogenic
(Feb 10, 2015)
criteria provided, single submitter
12.
GRCh37:
Chr22:51065593
GRCh38:
Chr22:50627165
ARSAMetachromatic leukodystrophy, Metachromatic leukodystrophy, juvenile type, Metachromatic leukodystrophy, adult type,
not provided
Pathogenic
(Sep 9, 2016)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr22:51065757
GRCh38:
Chr22:50627329
ARSAMetachromatic leukodystrophy, Metachromatic leukodystrophy, adult type, not specified
Conflicting interpretations of pathogenicity
(Feb 22, 2016)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr22:51065766
GRCh38:
Chr22:50627338
ARSAMetachromatic leukodystrophy, Metachromatic leukodystrophy, late infantilePathogenic/Likely pathogenic
(Dec 9, 2014)
criteria provided, single submitter
15.
GRCh37:
Chr22:51065802
GRCh38:
Chr22:50627374
ARSAMetachromatic leukodystrophy, Metachromatic leukodystrophy, late-onsetPathogenic
(Jun 13, 2014)
criteria provided, single submitter
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