"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ANKRD11"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 501282	NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp)	ANKRD11 (R2540W)	Single nucleotide variant (missense variant)	KBG syndrome +1 more	GConflicting classifications of pathogenicity
Select item 589152	NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser)	ANKRD11 (P2290S)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1207839	NM_013275.6(ANKRD11):c.6262G>A (p.Ala2088Thr)	ANKRD11 (A2088T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GLikely benign
Select item 800193	NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile)	ANKRD11 (V2029I)	Single nucleotide variant (missense variant)	ANKRD11-related disorder +3 more	GBenign/Likely benign
Select item 445952	NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu)	ANKRD11 (D1696E)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1492728	NM_013275.6(ANKRD11):c.4925C>T (p.Pro1642Leu)	ANKRD11 (P1642L)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1432636	NM_013275.6(ANKRD11):c.4561G>A (p.Glu1521Lys)	ANKRD11 (E1521K)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 772792	NM_013275.6(ANKRD11):c.4475_4498del (p.1484_1491LLRHHRDE[1])	ANKRD11	Deletion (inframe_deletion)	KBG syndrome +2 more	GLikely benign
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 703225	NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu)	ANKRD11 (P1144L)	Single nucleotide variant (missense variant)	KBG syndrome +2 more	GBenign/Likely benign
Select item 1476013	NM_013275.6(ANKRD11):c.3340T>A (p.Tyr1114Asn)	ANKRD11 (Y1114N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 489328	NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)	ANKRD11 (Y659*)	Single nucleotide variant (nonsense)	KBG syndrome +1 more	GPathogenic/Likely pathogenic
Select item 587996	NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr)	ANKRD11 (A618T)	Single nucleotide variant (missense variant)	KBG syndrome +3 more	GBenign/Likely benign
Select item 585401	NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly)	ANKRD11 (A615G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1254160	NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu)	ANKRD11 (H526L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 445449	NM_013275.6(ANKRD11):c.744+18C>G	ANKRD11	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign