"OMIM"[submitter] AND "TAF6"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180204	NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)	TAF6 (I108T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 180203	NM_139315.3(TAF6):c.136C>T (p.Arg46Cys)	TAF6 (R46C +2 more)	Single nucleotide variant (missense variant +2 more)	Cornelia de Lange syndrome 1 +1 more	GPathogenic