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Items: 10

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:74605173
GRCh38:
Chr2:74378046
DCTN1Perry syndromePathogenic
(Sep 29, 2016)
no assertion criteria provided
2.
GRCh37:
Chr2:74605206
GRCh38:
Chr2:74378079
DCTN1Perry syndromePathogenic
(Sep 29, 2016)
no assertion criteria provided
3.
GRCh37:
Chr2:74605239
GRCh38:
Chr2:74378112
DCTN1Amyotrophic lateral sclerosis type 1, Perry syndrome, Distal hereditary motor neuronopathy type 7B
Conflicting interpretations of pathogenicity
(Aug 4, 2017)
criteria provided, conflicting interpretations
4.
GRCh37:
Chr2:74605250
GRCh38:
Chr2:74378123
DCTN1Perry syndromePathogenic
(Sep 29, 2016)
no assertion criteria provided
5.
GRCh37:
Chr2:74605192
GRCh38:
Chr2:74378065
DCTN1Perry syndromePathogenic
(Sep 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr2:74605194
GRCh38:
Chr2:74378067
DCTN1Perry syndromePathogenic
(Sep 30, 2010)
no assertion criteria provided
7.
GRCh37:
Chr2:74605194
GRCh38:
Chr2:74378067
DCTN1Perry syndromePathogenic
(Feb 1, 2014)
no assertion criteria provided
8.
GRCh37:
Chr2:74605185
GRCh38:
Chr2:74378058
DCTN1Perry syndromePathogenic
(Sep 30, 2010)
no assertion criteria provided
9.
GRCh37:
Chr2:74605195
GRCh38:
Chr2:74378068
DCTN1Perry syndromePathogenic
(Sep 30, 2010)
no assertion criteria provided
10.
GRCh37:
Chr2:74605231
GRCh38:
Chr2:74378104
DCTN1Distal hereditary motor neuronopathy type 7BPathogenic
(Sep 30, 2010)
no assertion criteria provided
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