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Items: 27

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr8:27634064
GRCh38:
Chr8:27776547
ESCO2Roberts-SC phocomelia syndrome, not specifiedBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
2.
GRCh37:
Chr8:27634077-27634078
GRCh38:
Chr8:27776560-27776561
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
3.
GRCh37:
Chr8:27634119-27634122
GRCh38:
Chr8:27776602-27776605
ESCO2Roberts-SC phocomelia syndromePathogenic
(Sep 5, 2014)
criteria provided, single submitter
4.
GRCh37:
Chr8:27634132-27634136
GRCh38:
Chr8:27776615-27776619
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
5.
GRCh37:
Chr8:27634133-27634134
GRCh38:
Chr8:27776616-27776617
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
6.
GRCh37:
Chr8:27634242
GRCh38:
Chr8:27776725
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
7.
GRCh37:
Chr8:27634330
GRCh38:
Chr8:27776813
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
8.
GRCh37:
Chr8:27634429
GRCh38:
Chr8:27776912
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
9.
GRCh37:
Chr8:27634570-27634571
GRCh38:
Chr8:27777053-27777054
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
10.
GRCh37:
Chr8:27634576
GRCh38:
Chr8:27777059
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
11.
GRCh37:
Chr8:27634585
GRCh38:
Chr8:27777068
ESCO2Roberts-SC phocomelia syndromePathogenic
(Feb 8, 2013)
criteria provided, single submitter
12.
GRCh37:
Chr8:27634585
GRCh38:
Chr8:27777068
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
13.
GRCh37:
Chr8:27634589-27634590
GRCh38:
Chr8:27777072-27777073
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
14.
GRCh37:
Chr8:27637704-27637707
GRCh38:
Chr8:27780187-27780190
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
15.
GRCh37:
Chr8:27637708-27637709
GRCh38:
Chr8:27780191-27780192
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
16.
GRCh37:
Chr8:27637786-27637789
GRCh38:
Chr8:27780269-27780272
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
17.
GRCh37:
Chr8:27645499
GRCh38:
Chr8:27787982
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
18.
GRCh37:
Chr8:27645499-27645500
GRCh38:
Chr8:27787982-27787983
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
19.
GRCh37:
Chr8:27645520
GRCh38:
Chr8:27788003
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
20.
GRCh37:
Chr8:27646357
GRCh38:
Chr8:27788840
ESCO2Roberts-SC phocomelia syndromePathogenic
(Feb 8, 2013)
criteria provided, single submitter
21.
GRCh37:
Chr8:27646496
GRCh38:
Chr8:27788979
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
22.
GRCh37:
Chr8:27649485
GRCh38:
Chr8:27791968
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
23.
GRCh37:
Chr8:27650167
GRCh38:
Chr8:27792650
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
24.
GRCh37:
Chr8:27650292-27650293
GRCh38:
Chr8:27792775-27792776
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
25.
GRCh37:
Chr8:27657157
GRCh38:
Chr8:27799640
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
26.
GRCh37:
Chr8:27657175
GRCh38:
Chr8:27799658
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
27.
GRCh37:
Chr8:27660821
GRCh38:
Chr8:27803304
ESCO2Roberts-SC phocomelia syndromePathogenic
(Oct 2, 2008)
no assertion criteria provided
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