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Items: 8

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:11643575
GRCh38:
Chr16:11549719
LITAFCharcot-Marie-Tooth disease, type 1CPathogenic
(Dec 18, 2014)
no assertion criteria provided
2.
GRCh37:
Chr16:11643576
GRCh38:
Chr16:11549720
LITAFCharcot-Marie-Tooth disease, type 1CPathogenic
(Oct 18, 2012)
no assertion criteria provided
3.
GRCh37:
Chr16:11643576
GRCh38:
Chr16:11549720
LITAFCharcot-Marie-Tooth disease, type 1CPathogenic
(Oct 18, 2012)
no assertion criteria provided
4.
GRCh37:
Chr16:11643594
GRCh38:
Chr16:11549738
LITAFCharcot-Marie-Tooth disease, type 1CPathogenic
(Dec 18, 2014)
no assertion criteria provided
5.
GRCh37:
Chr16:11647420
GRCh38:
Chr16:11553564
LITAFCharcot-Marie-Tooth disease, type 1CPathogenic
(Oct 18, 2012)
no assertion criteria provided
6.
GRCh37:
Chr16:11647422
GRCh38:
Chr16:11553566
LITAFCharcot-Marie-Tooth disease, type 1CPathogenic
(Oct 18, 2012)
no assertion criteria provided
7.
GRCh37:
Chr16:11647432
GRCh38:
Chr16:11553576
LITAFCharcot-Marie-Tooth disease, type 1C, not providedPathogenic
(Sep 3, 2015)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr16:11647434
GRCh38:
Chr16:11553578
LITAFCharcot-Marie-Tooth disease, type 1CPathogenic
(Oct 18, 2012)
no assertion criteria provided
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