"The Purple Gene Clinic, Mumbai"[submitter] AND "ANKRD11"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 503853	NM_013275.6(ANKRD11):c.6836_6837del (p.Val2279fs)	ANKRD11 (V2279fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 3237169	NM_013275.6(ANKRD11):c.6168C>G (p.Tyr2056Ter)	ANKRD11 (Y2056*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 1065426	NM_013275.6(ANKRD11):c.4396_4397del (p.Arg1466fs)	ANKRD11 (R1466fs)	Deletion (frameshift variant)	KBG syndrome +1 more	GPathogenic
Select item 545701	NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter)	ANKRD11 (Q1236*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 3237170	NM_013275.6(ANKRD11):c.2863del (p.Leu955fs)	ANKRD11 (L955fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3237152	NM_013275.6(ANKRD11):c.2650del (p.Asp884fs)	ANKRD11 (D884fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 976186	NM_013275.6(ANKRD11):c.2297_2300del (p.Lys766fs)	ANKRD11 (K766fs)	Microsatellite (frameshift variant)	KBG syndrome +2 more	GPathogenic/Likely pathogenic

ClinVar