Related gene-specific medical variations for Gene (Select 28981) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1299657	NC_000012.11:g.110593351_110576466dup	IFT81	Duplication	SHORT-RIB THORACIC DYSPLASIA 19 WITHOUT POLYDACTYLY	GPathogenic
Select item 599486	NM_014055.4(IFT81):c.259C>T (p.Arg87Cys)	IFT81 (R87C)	Single nucleotide variant (missense variant +2 more)	Short stature	GLikely pathogenic
Select item 560182	Single allele	IFT81	Duplication	Short-rib thoracic dysplasia 19 with or without polydactyly	GPathogenic

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