ClinVar Miner

List of variants in gene ANKRD11 reported as pathogenic for KBG syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 51
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HGVS dbSNP
NC_000016.9:g.(?_89334866)_(89355098_?)del
NM_001256182:c.7545delG
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)
NM_013275.6(ANKRD11):c.1458_1459AG[2] (p.Ser488fs) rs1555529645
NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter)
NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter) rs1555529551
NM_013275.6(ANKRD11):c.1898_1902AAACA[1] (p.Lys635fs) rs886041125
NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter) rs1567579525
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013275.6(ANKRD11):c.2047_2048del (p.Lys683fs) rs1567579092
NM_013275.6(ANKRD11):c.2171_2174CAAA[1] (p.Asn725fs) rs886039734
NM_013275.6(ANKRD11):c.2273_2274del (p.Leu758fs)
NM_013275.6(ANKRD11):c.2305del (p.Ser769fs) rs863223320
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs) rs797045027
NM_013275.6(ANKRD11):c.2404_2407del (p.Leu802fs) rs1555529181
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs) rs886039902
NM_013275.6(ANKRD11):c.2454dup (p.Asn819Ter)
NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter) rs1135401804
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter)
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)
NM_013275.6(ANKRD11):c.2824_2825AG[1] (p.Arg942fs)
NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter) rs1057518663
NM_013275.6(ANKRD11):c.3198_3199del (p.His1066fs) rs1567574291
NM_013275.6(ANKRD11):c.3220_3223AAAG[1] (p.Glu1075fs) rs1064794330
NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter) rs761848111
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs) rs1555528400
NM_013275.6(ANKRD11):c.3708_3709del (p.Lys1237fs) rs1567572265
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs) rs886039477
NM_013275.6(ANKRD11):c.3770_3773del (p.Lys1257fs) rs1567571990
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter) rs749632782
NM_013275.6(ANKRD11):c.4270del (p.Ser1424fs)
NM_013275.6(ANKRD11):c.5065del (p.Leu1689fs) rs1567566026
NM_013275.6(ANKRD11):c.5504del (p.Leu1835fs) rs1057519399
NM_013275.6(ANKRD11):c.5682dup (p.Arg1895fs)
NM_013275.6(ANKRD11):c.5951_5952CA[1] (p.Gln1985fs) rs863223321
NM_013275.6(ANKRD11):c.6015dup (p.Gly2006fs) rs879253753
NM_013275.6(ANKRD11):c.618del (p.His206fs)
NM_013275.6(ANKRD11):c.6197_6198delinsAA (p.Phe2066Ter) rs1555525977
NM_013275.6(ANKRD11):c.6210_6211del (p.Lys2070fs) rs863225257
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter) rs763407068
NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter) rs869312713
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter) rs1381957912
NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter)
NM_013275.6(ANKRD11):c.6786_6787insA (p.Pro2263fs) rs1135401815
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs) rs878855327
NM_013275.6(ANKRD11):c.6805_6806TG[1] (p.Ala2270fs)
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter) rs1221781038
NM_013275.6(ANKRD11):c.6968_6975del (p.Ala2323fs) rs1555525115
NM_013275.6(ANKRD11):c.7570-1G>C rs863223319
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter) rs761636251
NM_013275.6(ANKRD11):c.893-1G>C rs1567583835

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