ClinVar for MedGen (Select 1648428) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2442170	NM_145269.5(CIBAR1):c.394_397del (p.Arg132fs)	CIBAR1 (R132fs)	Microsatellite (frameshift variant +1 more)	Polydactyly, postaxial, type A9	GLikely pathogenic
Select item 1687560	NM_145269.5(CIBAR1):c.364C>T (p.Arg122Ter)	CIBAR1 (R122*)	Single nucleotide variant (nonsense +1 more)	Polydactyly, postaxial, type A9	GPathogenic
Select item 592165	NM_145269.5(CIBAR1):c.478C>T (p.Arg160Ter)	CIBAR1 (R160*)	Single nucleotide variant (nonsense +1 more)	Polydactyly, postaxial, type A9	GPathogenic

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