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Items: 2

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr14:76488736-76488739
GRCh38:
Chr14:76022393-76022396
IFT43Cranioectodermal dysplasia 3Uncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000631717
2.
GRCh37:
Chr14:76452130
GRCh38:
Chr14:75985787
IFT43M1VCranioectodermal dysplasia 3Pathogenic
(Sep 12, 2013)
no assertion criteria providedVCV000031098
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