C0220687[trait identifier] AND "HudsonAlpha Institute for Biotechnolog - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1251944	NM_013275.6(ANKRD11):c.7404_7427del (p.Glu2468_Tyr2476delinsAsp)	ANKRD11	Deletion (inframe_indel)	KBG syndrome	GUncertain significance
Select item 1073378	NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs)	ANKRD11 (S2355fs)	Duplication (frameshift variant)	ANKRD11-related condition +1 more	GPathogenic
Select item 242348	NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs)	ANKRD11 (A2265fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 224159	NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter)	ANKRD11 (E2158*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1251930	NM_013275.6(ANKRD11):c.4055_4058del (p.His1352fs)	ANKRD11 (H1352fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 266033	NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)	ANKRD11 (K803fs)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 209131	NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)	ANKRD11 (E800fs)	Deletion (frameshift variant)	KBG syndrome +3 more	GPathogenic
Select item 280620	NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)	ANKRD11 (R733*)	Single nucleotide variant (nonsense)	KBG syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1707766	NM_013275.6(ANKRD11):c.448A>G (p.Thr150Ala)	ANKRD11 (T150A)	Single nucleotide variant (missense variant +1 more)	KBG syndrome +1 more	GUncertain significance

ClinVar