C0220687[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031774	NM_013275.6(ANKRD11):c.7519C>T (p.Gln2507Ter)	ANKRD11 (Q2507*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1031773	NM_013275.6(ANKRD11):c.7103G>A (p.Arg2368Lys)	ANKRD11 (R2368K)	Single nucleotide variant (missense variant)	KBG syndrome +1 more	GUncertain significance
Select item 1029222	NM_013275.6(ANKRD11):c.6874G>A (p.Asp2292Asn)	ANKRD11 (D2292N)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1029221	NM_013275.6(ANKRD11):c.6860G>C (p.Gly2287Ala)	ANKRD11 (G2287A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1031772	NM_013275.6(ANKRD11):c.6823G>T (p.Ala2275Ser)	ANKRD11 (A2275S)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1029220	NM_013275.6(ANKRD11):c.6694C>A (p.Arg2232Ser)	ANKRD11 (R2232S)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1031771	NM_013275.6(ANKRD11):c.6361G>A (p.Ala2121Thr)	ANKRD11 (A2121T)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1029219	NM_013275.6(ANKRD11):c.6224C>G (p.Ala2075Gly)	ANKRD11 (A2075G)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1029218	NM_013275.6(ANKRD11):c.6206G>A (p.Cys2069Tyr)	ANKRD11 (C2069Y)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 817713	NM_013275.6(ANKRD11):c.5777dup (p.Glu1927fs)	ANKRD11 (E1927fs)	Duplication (frameshift variant)	KBG syndrome +1 more	GPathogenic
Select item 1701027	NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter)	ANKRD11 (Q1887*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1031770	NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter)	ANKRD11 (S1884*)	Single nucleotide variant (nonsense)	KBG syndrome +1 more	GPathogenic
Select item 1031769	NM_013275.6(ANKRD11):c.5550C>G (p.Tyr1850Ter)	ANKRD11 (Y1850*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1029217	NM_013275.6(ANKRD11):c.5543C>T (p.Pro1848Leu)	ANKRD11 (P1848L)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2441751	NM_013275.6(ANKRD11):c.5364C>G (p.Tyr1788Ter)	ANKRD11 (Y1788*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1029215	NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter)	ANKRD11 (Y1715*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 560942	NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs)	ANKRD11 (L1689fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 1029214	NM_013275.6(ANKRD11):c.4553C>G (p.Ser1518Cys)	ANKRD11 (S1518C)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 2441743	NM_013275.6(ANKRD11):c.4369A>T (p.Lys1457Ter)	ANKRD11 (K1457*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1027801	NM_013275.6(ANKRD11):c.4271C>T (p.Ser1424Phe)	ANKRD11 (S1424F)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 798243	NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser)	ANKRD11 (T1318S)	Single nucleotide variant (missense variant)	KBG syndrome	GConflicting classifications of pathogenicity
Select item 560941	NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs)	ANKRD11 (K1257fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 265324	NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs)	ANKRD11 (K1257fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 523956	NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs)	ANKRD11 (K1235fs)	Deletion (frameshift variant)	KBG syndrome +2 more	GPathogenic
Select item 1027800	NM_013275.6(ANKRD11):c.3651C>A (p.Tyr1217Ter)	ANKRD11 (Y1217*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1031767	NM_013275.6(ANKRD11):c.3454A>G (p.Lys1152Glu)	ANKRD11 (K1152E)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 1031766	NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser)	ANKRD11 (P1092S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 420179	NM_013275.6(ANKRD11):c.3224_3227del (p.Glu1075fs)	ANKRD11 (E1075fs)	Microsatellite (frameshift variant)	KBG syndrome +1 more	GPathogenic
Select item 1027799	NM_013275.6(ANKRD11):c.3127C>A (p.Leu1043Met)	ANKRD11 (L1043M)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 374273	NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter)	ANKRD11 (S1041*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
Select item 1031765	NM_013275.6(ANKRD11):c.2793dup (p.Gly932fs)	ANKRD11 (G932fs)	Duplication (frameshift variant)	KBG syndrome	GPathogenic
Select item 1034411	NM_013275.6(ANKRD11):c.2426G>C (p.Arg809Thr)	ANKRD11 (R809T)	Single nucleotide variant (missense variant)	KBG syndrome	GUncertain significance
Select item 209131	NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)	ANKRD11 (E800fs)	Deletion (frameshift variant)	KBG syndrome +3 more	GPathogenic
Select item 1034410	NM_013275.6(ANKRD11):c.2184CAG[1] (p.Ser729del)	ANKRD11 (S729del)	Microsatellite (inframe_deletion)	KBG syndrome	GUncertain significance
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 560940	NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs)	ANKRD11 (K683fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 689739	NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala)	ANKRD11 (D669A)	Single nucleotide variant (missense variant)	KBG syndrome	GLikely pathogenic
Select item 560939	NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter)	ANKRD11 (Q650*)	Single nucleotide variant (nonsense)	KBG syndrome	GPathogenic
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 522136	NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs)	ANKRD11 (S488fs)	Microsatellite (frameshift variant)	not provided +2 more	GPathogenic
Select item 2442110	NM_013275.6(ANKRD11):c.928_934del (p.Pro310fs)	ANKRD11 (P310fs)	Deletion (frameshift variant)	KBG syndrome	GPathogenic
Select item 560944	NM_013275.6(ANKRD11):c.893-1G>C	ANKRD11	Single nucleotide variant (splice acceptor variant)	KBG syndrome	GPathogenic
Select item 560943	NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter)	ANKRD11 (Y289*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1029216	NM_013275.6(ANKRD11):c.521G>T (p.Arg174Leu)	ANKRD11 (R174L)	Single nucleotide variant (missense variant +1 more)	KBG syndrome	GUncertain significance
Select item 1031768	NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln)	ANKRD11 (E126Q)	Single nucleotide variant (missense variant +1 more)	KBG syndrome	GConflicting classifications of pathogenicity
Select item 1027797	NM_013275.6(ANKRD11):c.196G>A (p.Ala66Thr)	ANKRD11 (A66T)	Single nucleotide variant (missense variant +1 more)	KBG syndrome	GUncertain significance
Select item 1031775	NM_013275.6(ANKRD11):c.87+13C>T	ANKRD11	Single nucleotide variant (intron variant)	KBG syndrome	GUncertain significance
Select item 1029223	NM_013275.6(ANKRD11):c.77C>G (p.Thr26Ser)	ANKRD11 (T26S)	Single nucleotide variant (missense variant +1 more)	KBG syndrome	GUncertain significance

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Items: 48