C0220687[trait identifier] AND "Genetics Laboratory, UDIAT-Centre Diag - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1708220	NM_013275.6(ANKRD11):c.7048_7050del (p.Gln2350del)	ANKRD11 (Q2350del)	Deletion (inframe_deletion)	KBG syndrome	GPathogenic
Select item 973134	NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs)	ANKRD11 (E2295fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1708212	NM_013275.6(ANKRD11):c.5146G>T (p.Glu1716Ter)	ANKRD11 (E1716*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 280288	NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs)	ANKRD11 (R1462fs)	Duplication (frameshift variant)	KBG syndrome +3 more	GPathogenic
Select item 1708236	NM_013275.6(ANKRD11):c.4306G>T (p.Glu1436Ter)	ANKRD11 (E1436*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 870866	NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter)	ANKRD11 (R838*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

ClinVar