ClinVar for MedGen (Select 1851509) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664150	NM_024593.4(CLXN):c.117_129del (p.Glu40fs)	CLXN (E40fs)	Deletion (frameshift variant +1 more)	Ciliary dyskinesia, primary, 53	GPathogenic
Select item 2664149	NM_024593.4(CLXN):c.367G>T (p.Glu123Ter)	CLXN (E123* +1 more)	Single nucleotide variant (nonsense +1 more)	Ciliary dyskinesia, primary, 53	GLikely pathogenic
Select item 2664148	NM_024593.4(CLXN):c.292C>T (p.Arg98Ter)	CLXN (R98* +1 more)	Single nucleotide variant (nonsense +1 more)	Ciliary dyskinesia, primary, 53	GLikely pathogenic

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