C0220687[trait identifier] AND "Molecular Genetics Lab, CHRU Brest"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024235	NM_013275.6(ANKRD11):c.6748_6757del (p.Pro2250fs)	ANKRD11 (P2250fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 3024307	NM_013275.6(ANKRD11):c.6685G>T (p.Glu2229Ter)	ANKRD11 (E2229*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic
Select item 975179	NM_013275.6(ANKRD11):c.2618_2619del (p.Val873fs)	ANKRD11 (V873fs)	Microsatellite (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 265689	NM_013275.6(ANKRD11):c.2175_2178del (p.Asn725fs)	ANKRD11 (N725fs)	Microsatellite (frameshift variant)	KBG syndrome +1 more	GPathogenic/Likely pathogenic
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 3024327	NM_013275.6(ANKRD11):c.1518_1536del (p.Leu507fs)	ANKRD11 (L507fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 3024296	NM_013275.6(ANKRD11):c.637del (p.Tyr213fs)	ANKRD11 (Y213fs)	Deletion (frameshift variant +1 more)	KBG syndrome	GLikely pathogenic
Select item 3024283	NM_013275.6(ANKRD11):c.496G>T (p.Glu166Ter)	ANKRD11 (E166*)	Single nucleotide variant (nonsense +1 more)	KBG syndrome	GLikely pathogenic

ClinVar