"Department of Medical Genetics, National Institute of Health"[submitt - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1700572	NM_013275.6(ANKRD11):c.3907del (p.Val1303fs)	ANKRD11 (V1303fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 2574043	NM_013275.6(ANKRD11):c.2127A>C (p.Glu709Asp)	ANKRD11 (E709D)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1700571	NM_013275.6(ANKRD11):c.1669C>G (p.Pro557Ala)	ANKRD11 (P557A)	Single nucleotide variant (missense variant)	KBG syndrome	GPathogenic

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