C0220687[trait identifier] AND "MGZ Medical Genetics Center"[submitter - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709665	NM_013275.6(ANKRD11):c.7569G>A (p.Arg2523=)	ANKRD11	Single nucleotide variant (synonymous variant)	KBG syndrome	GUncertain significance
Select item 521294	NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs)	ANKRD11 (A2265fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 1709287	NM_013275.6(ANKRD11):c.6101del (p.Leu2034fs)	ANKRD11 (L2034fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 1709973	NM_013275.6(ANKRD11):c.4634del (p.Pro1545fs)	ANKRD11 (P1545fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 1709080	NM_013275.6(ANKRD11):c.4373AGA[3] (p.Lys1461del)	ANKRD11 (K1461del)	Microsatellite (inframe_deletion)	not provided +1 more	GUncertain significance
Select item 488985	NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter)	ANKRD11 (R1363*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 812782	NM_013275.6(ANKRD11):c.3309dup (p.Asp1104fs)	ANKRD11 (D1104fs)	Duplication (frameshift variant)	KBG syndrome +1 more	GPathogenic
Select item 1709653	NM_013275.6(ANKRD11):c.2063dup (p.His689fs)	ANKRD11 (H689fs)	Duplication (frameshift variant)	KBG syndrome	GLikely 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 1709607	NM_013275.6(ANKRD11):c.1119del (p.Glu374fs)	ANKRD11 (E374fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 1709395	NM_013275.6(ANKRD11):c.1063C>T (p.Gln355Ter)	ANKRD11 (Q355*)	Single nucleotide variant (nonsense)	KBG syndrome	GLikely pathogenic