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Items: 10

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr14:61115509-61115511
GRCh38:
Chr14:60648791-60648793
SIX1Branchiootic syndrome 3, Deafness, autosomal dominant 23Pathogenic
(Aug 27, 2009)
no assertion criteria provided
2.
GRCh37:
Chr14:61115522
GRCh38:
Chr14:60648804
SIX1Branchiootic syndrome 3, Deafness, autosomal dominant 23, Melnick-Fraser syndrome,
not provided
Pathogenic
(Sep 1, 2017)
criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr14:61115574
GRCh38:
Chr14:60648856
SIX1Melnick-Fraser syndromePathogenic
(Jun 20, 2013)
no assertion criteria provided
4.
GRCh37:
Chr14:61115580
GRCh38:
Chr14:60648862
SIX1Branchiootic syndrome 3Pathogenic
(Aug 27, 2009)
no assertion criteria provided
5.
GRCh37:
Chr14:61115591
GRCh38:
Chr14:60648873
SIX1Melnick-Fraser syndromePathogenic
(Jun 20, 2013)
no assertion criteria provided
6.
GRCh37:
Chr14:61115858
GRCh38:
Chr14:60649140
SIX1Melnick-Fraser syndromePathogenic
(Jun 20, 2013)
no assertion criteria provided
7.
GRCh37:
Chr19:46269324
GRCh38:
Chr19:45766066
SIX5Branchiootorenal syndrome 2Conflicting interpretations of pathogenicity
(Feb 1, 2011)
no assertion criteria provided
8.
GRCh37:
Chr19:46270124
GRCh38:
Chr19:45766866
SIX5, LOC107075317Branchiootorenal syndrome 2Pathogenic
(Aug 27, 2009)
no assertion criteria provided
9.
GRCh37:
Chr19:46270331
GRCh38:
Chr19:45767073
SIX5, LOC107075317Branchiootorenal syndrome 2Pathogenic
(Aug 27, 2009)
no assertion criteria provided
10.
GRCh37:
Chr19:46271631
GRCh38:
Chr19:45768373
SIX5, LOC107075317, DM1-ASBranchiootorenal syndrome 2Pathogenic
(Aug 27, 2009)
no assertion criteria provided
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