"Department of Human Genetics, Hannover Medical School"[submitter] AND - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2692361	NM_013275.6(ANKRD11):c.6739_6740insCC (p.Glu2247fs)	ANKRD11 (E2247fs)	Insertion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3250482	NM_013275.6(ANKRD11):c.2983A>T (p.Lys995Ter)	ANKRD11 (K995*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 2672241	NM_013275.6(ANKRD11):c.277_283dup (p.Gly95fs)	ANKRD11 (G95fs)	Duplication (frameshift variant +1 more)	KBG syndrome	GLikely pathogenic

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