"Laboratory for Molecular Medicine, Mass General Brigham Personalized - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3076032	NM_182758.4(WDR72):c.2019dup (p.Trp674fs)	WDR72 (W674fs)	Duplication (frameshift variant +1 more)	Amelogenesis imperfecta	GLikely pathogenic
Select item 517616	NM_182758.4(WDR72):c.88C>T (p.Arg30Ter)	WDR72 (R30*)	Single nucleotide variant (nonsense +1 more)	Amelogenesis imperfecta hypomaturation type 2A3 +1 more	GLikely pathogenic