C0220687[trait identifier] AND "Molecular Genetics Department, Kulakov - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062276	NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)	ANKRD11 (K2423*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 3062243	NM_013275.6(ANKRD11):c.2499_2502del (p.Ser834fs)	ANKRD11 (S834fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3062321	NM_013275.6(ANKRD11):c.2161dup (p.Ile721fs)	ANKRD11 (I721fs)	Duplication (frameshift variant)	KBG syndrome	GLikely pathogenic

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