"Diagnostic Laboratory, Strasbourg University Hospital"[submitter] AND - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 973133	NM_013275.6(ANKRD11):c.7189C>T (p.Gln2397Ter)	ANKRD11 (Q2397*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 450818	NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)	ANKRD11 (R2328fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 973134	NM_013275.6(ANKRD11):c.6882_6883del (p.Glu2295fs)	ANKRD11 (E2295fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 973128	NM_013275.6(ANKRD11):c.5575T>C (p.Ser1859Pro)	ANKRD11 (S1859P)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 973138	NM_013275.6(ANKRD11):c.5150A>T (p.Glu1717Val)	ANKRD11 (E1717V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 579848	NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter)	ANKRD11 (Y1402*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 973130	NM_013275.6(ANKRD11):c.4112C>T (p.Ala1371Val)	ANKRD11 (A1371V)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 973135	NM_013275.6(ANKRD11):c.4067del (p.Ser1356fs)	ANKRD11 (S1356fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 418939	NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)	ANKRD11 (Y1028*)	Single nucleotide variant (nonsense)	KBG syndrome +1 more	GPathogenic/Likely pathogenic
Select item 973129	NM_013275.6(ANKRD11):c.2904del (p.Glu969fs)	ANKRD11 (E969fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 973132	NM_013275.6(ANKRD11):c.2262_2265del (p.Glu755fs)	ANKRD11 (E755fs)	Deletion (frameshift variant)	Intellectual disability	GLikely pathogenic
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	Neurodevelopmental delay +11 more	GPathogenic/Likely pathogenic
Select item 973137	NM_013275.6(ANKRD11):c.1677G>A (p.Trp559Ter)	ANKRD11 (W559*)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 973136	NM_013275.6(ANKRD11):c.998del (p.Asn333fs)	ANKRD11 (N333fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 973131	NM_013275.6(ANKRD11):c.87+4del	ANKRD11	Deletion (intron variant)	Intellectual disability	GUncertain significance