"OMIM"[submitter] AND "EXOC6B"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 625845	NM_015189.3(EXOC6B):c.906T>A (p.Tyr302Ter)	EXOC6B (Y302* +1 more)	Single nucleotide variant (nonsense +1 more)	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GPathogenic
Select item 625846	NG_050967.1:g.291668_510915del	EXOC6B	Deletion	Spondyloepimetaphyseal dysplasia with joint laxity, type 3	GPathogenic