Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_013275.6(ANKRD11):c.7570-1G>C	SNV Germline	Chr16:89274958	Pathogenic	KBG syndrome	No Assertion Criteria Provided	CA278904	rs_863223319	1 SubmittersRCV000023875
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)	SNV Germline	Chr16:89268645	Pathogenic/Likely pathogenic	Inborn genetic diseases KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA204730	rs_797044900	4 SubmittersRCV000190724 RCV001781565
NM_013275.6(ANKRD11):c.7569+1G>A	SNV Germline	Chr16:89275092	Pathogenic	Inborn genetic diseases Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA204700	rs_797044890	4 SubmittersRCV000190712 RCV000335440 RCV001265123
NM_013275.6(ANKRD11):c.3098G>T (p.Ser1033Ile)	SNV Germline	Chr16:89283444	Conflicting classifications of pathogenicity	not specified KBG syndrome	Criteria Provided Conflicting Classifications	CA249396	rs_201522384	2 SubmittersRCV000203190 RCV001853267
NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter)	SNV Germline	Chr16:89280070	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA353445	rs_869312713	1 SubmittersRCV000209927
NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter)	SNV Germline	Chr16:89282980	Pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603423	rs_761848111	5 SubmittersRCV000266509 RCV000578369
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)	SNV Germline	Chr16:89284345	Pathogenic/Likely pathogenic	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10603433	rs_886041791	8 SubmittersRCV000389598 RCV000455520 RCV000622829
NM_013275.6(ANKRD11):c.7234C>T (p.Gln2412Ter)	SNV Germline	Chr16:89279308	Pathogenic/Likely pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA10603561	rs_886042019	2 SubmittersRCV000269007 RCV003129819
NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter)	SNV Germline	Chr16:89284741	Pathogenic	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA10603567	rs_772229371	6 SubmittersRCV000317010 RCV001251665 RCV004649114
NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser)	SNV Germline	Chr16:89285409	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome ANKRD11-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242852	rs_202203523	8 SubmittersRCV000399740 RCV002519101 RCV003947839 RCV004984774
NM_013275.6(ANKRD11):c.674C>T (p.Ala225Val)	SNV Germline	Chr16:89288598	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8243014	rs_746852311	2 SubmittersRCV000413362 RCV004594053
NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter)	SNV Germline	Chr16:89283420	Pathogenic	KBG syndrome	No Assertion Criteria Provided	CA16043692	rs_1057518663	1 SubmittersRCV000414961
NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp)	SNV Germline	Chr16:89270872	Likely pathogenic	KBG syndrome	No Assertion Criteria Provided	CA397146575	rs_1555521799	1 SubmittersRCV000498680
NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter)	SNV Germline	Chr16:89280330	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA16044381	rs_763407068	3 SubmittersRCV000417107
NM_013275.6(ANKRD11):c.7519C>A (p.Gln2507Lys)	SNV Germline	Chr16:89275143	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241118	rs_572878194	4 SubmittersRCV000441526 RCV002314126 RCV003766184
NM_013275.6(ANKRD11):c.7570-1G>A	SNV Germline	Chr16:89274958	Pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16607487	rs_863223319	2 SubmittersRCV000418665 RCV005410902
NM_013275.6(ANKRD11):c.7806+4G>A	SNV Germline	Chr16:89270813	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome ANKRD11-related disorder	Criteria Provided Conflicting Classifications	CA8241011	rs_373180876	4 SubmittersRCV001698191 RCV002522518 RCV003942438
NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)	SNV Germline	Chr16:89283458	Pathogenic/Likely pathogenic	Condition: not provided KBG syndrome Intellectual disability	Criteria Provided Multiple Submitters No Conflicts	CA16620308	rs_1064793539	4 SubmittersRCV000479193 RCV000824827 RCV001249507
NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)	SNV Germline	Chr16:89268656	Conflicting classifications of pathogenicity	Condition: not provided Intellectual disability ANKRD11-related disorder KBG syndrome	Criteria Provided Conflicting Classifications	CA397145398	rs_1131691512	4 SubmittersRCV000493206 RCV001251206 RCV003403140 RCV003766774
NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly)	SNV Germline	Chr16:89279188	Pathogenic/Likely pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397148533	rs_1064795497	2 SubmittersRCV000493430 RCV002275041
NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln)	SNV Germline	Chr16:89283858	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases ANKRD11-related disorder	Criteria Provided Conflicting Classifications	CA8242536	rs_199800166	4 SubmittersRCV000493061 RCV000696596 RCV002318599 RCV003424046
NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter)	SNV Germline	Chr16:89283895	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397161845	rs_1135401804	1 SubmittersRCV000496122
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter)	SNV Germline	Chr16:89279872	Pathogenic	KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397150251	rs_1381957912	2 SubmittersRCV000503738
NM_013275.6(ANKRD11):c.3418G>A (p.Ala1140Thr)	SNV Germline	Chr16:89283124	Conflicting classifications of pathogenicity	not specified Condition: not provided KBG syndrome Inborn genetic diseases ANKRD11-related disorder	Criteria Provided Conflicting Classifications	CA8242370	rs_369869329	6 SubmittersRCV000502009 RCV001584210 RCV001865596 RCV002455963 RCV003932813
NM_013275.6(ANKRD11):c.2805G>A (p.Ser935=)	SNV Germline	Chr16:89283737	Conflicting classifications of pathogenicity	not specified KBG syndrome	Criteria Provided Conflicting Classifications	CA8242507	rs_149751840	2 SubmittersRCV000503563 RCV002524149
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter)	SNV Germline	Chr16:89279695	Pathogenic	KBG syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA397149854	rs_1221781038	4 SubmittersRCV000509301 RCV000624386
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)	SNV Germline	Chr16:89280430	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome ANKRD11-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241582	rs_200724087	8 SubmittersRCV000514296 RCV002060210 RCV003960211 RCV002358395
NM_013275.6(ANKRD11):c.227-5C>G	SNV Germline	Chr16:89291188	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA624452751	rs_1303795065	2 SubmittersRCV000522416 RCV003640907
NM_013275.6(ANKRD11):c.4609G>A (p.Gly1537Ser)	SNV Germline	Chr16:89281933	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA397157201	rs_1347006212	2 SubmittersRCV000547170 RCV002316528
NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter)	SNV Germline	Chr16:89282254	Likely pathogenic	KBG syndrome	No Assertion Criteria Provided	CA397157902	rs_1555527929	1 SubmittersRCV000578293
NM_013275.6(ANKRD11):c.5974A>T (p.Lys1992Ter)	SNV Germline	Chr16:89280568	Likely pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397152308	rs_763207005	2 SubmittersRCV000578970 RCV005411495
NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter)	SNV Germline	Chr16:89282455	Pathogenic	Condition: not provided KBG syndrome Global developmental delay	Criteria Provided Multiple Submitters No Conflicts	CA397158341	rs_1364690005	7 SubmittersRCV000579355 RCV001261256 RCV001376681
NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)	SNV Germline	Chr16:89284565	Pathogenic/Likely pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397163483	rs_749201074	7 SubmittersRCV000579343 RCV000763390
NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp)	SNV Germline	Chr16:89274909	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397147655	rs_1555523386	5 SubmittersRCV000595302 RCV000765318
NM_013275.6(ANKRD11):c.3872A>G (p.Glu1291Gly)	SNV Germline	Chr16:89282670	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8242272	rs_377605019	2 SubmittersRCV001698043 RCV005091720
NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter)	SNV Germline	Chr16:89279215	Pathogenic	Inborn genetic diseases KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397148601	rs_1555524861	3 SubmittersRCV000622818 RCV002510579
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys)	SNV Germline	Chr16:89305206	Pathogenic	Inborn genetic diseases KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397163853	rs_1555535454	2 SubmittersRCV000623658 RCV001855302
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)	SNV Germline	Chr16:89279623	Conflicting classifications of pathogenicity	KBG syndrome Atypical behavior Seizure Macrocephaly Global developmental delay Hand tremor Condition: not provided Inborn genetic diseases ANKRD11-related disorder	Criteria Provided Conflicting Classifications	CA286509669	rs_575642464	10 SubmittersRCV000625153 RCV000626913 RCV000710575 RCV002317376 RCV003945569
NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter)	SNV Germline	Chr16:89282836	Likely pathogenic	KBG syndrome	No Assertion Criteria Provided	CA397159193	rs_1555528356	2 SubmittersRCV000656734
NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter)	SNV Germline	Chr16:89305272	Pathogenic	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA397164189	rs_749607205	5 SubmittersRCV000657789 RCV001218595 RCV006663099
NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter)	SNV Germline	Chr16:89284863	Pathogenic	KBG syndrome	No Assertion Criteria Provided	CA397164437	rs_1555529551	1 SubmittersRCV000677406
NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter)	SNV Germline	Chr16:89284594	Pathogenic	KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397163550	rs_1567579525	2 SubmittersRCV000679907
NM_013275.6(ANKRD11):c.893-1G>C	SNV Germline	Chr16:89285650	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397166225	rs_1567583835	1 SubmittersRCV000679913
NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter)	SNV Germline	Chr16:89286064	Pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397166292	rs_761636251	3 SubmittersRCV000679912 RCV001200610
NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter)	SNV Germline	Chr16:89282336	Pathogenic	KBG syndrome Intellectual disability Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397158076	rs_749632782	5 SubmittersRCV000703231 RCV001249512 RCV002245612
NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu)	SNV Germline	Chr16:89279962	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases ANKRD11-related disorder	Criteria Provided Conflicting Classifications	CA8241395	rs_201589586	6 SubmittersRCV000710567 RCV000810332 RCV002317935 RCV003918146
NM_013275.6(ANKRD11):c.3197A>G (p.His1066Arg)	SNV Germline	Chr16:89283345	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8242407	rs_747326096	2 SubmittersRCV002316809 RCV006612466
NM_013275.6(ANKRD11):c.7090G>A (p.Ala2364Thr)	SNV Germline	Chr16:89279452	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA397149350	rs_999130123	2 SubmittersRCV002313519 RCV006464059
NM_013275.6(ANKRD11):c.7087C>G (p.Pro2363Ala)	SNV Germline	Chr16:89279455	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241296	rs_769501453	4 SubmittersRCV001726322 RCV002315365 RCV002533021
NM_013275.6(ANKRD11):c.6283C>G (p.Leu2095Val)	SNV Germline	Chr16:89280259	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241507	rs_772144411	2 SubmittersRCV002314473 RCV006464053
NM_013275.6(ANKRD11):c.3577G>A (p.Ala1193Thr)	SNV Germline	Chr16:89282965	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8242330	rs_111737495	2 SubmittersRCV002316850 RCV005092097
NM_013275.6(ANKRD11):c.3005G>A (p.Arg1002Gln)	SNV Germline	Chr16:89283537	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242450	rs_757870881	2 SubmittersRCV000919649 RCV002312357
NM_013275.6(ANKRD11):c.5726C>T (p.Pro1909Leu)	SNV Germline	Chr16:89280816	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241743	rs_780224924	2 SubmittersRCV002316043 RCV003525947
NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu)	SNV Germline	Chr16:89284779	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242700	rs_202142344	4 SubmittersRCV001862052 RCV001556943 RCV002317981
NM_013275.6(ANKRD11):c.449C>T (p.Thr150Met)	SNV Germline	Chr16:89290777	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8243083	rs_777070083	2 SubmittersRCV002315295 RCV003525950
NM_013275.6(ANKRD11):c.3097A>T (p.Ser1033Cys)	SNV Germline	Chr16:89283445	Conflicting classifications of pathogenicity	not specified KBG syndrome	Criteria Provided Conflicting Classifications	CA8242427	rs_201929972	2 SubmittersRCV000736054 RCV003640937
NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter)	SNV Germline	Chr16:89283850	Pathogenic	Condition: not provided Global developmental delay KBG syndrome ANKRD11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA8242534	rs_780011005	8 SubmittersRCV000760640 RCV001376676 RCV001388447 RCV004723158
NM_013275.6(ANKRD11):c.2283C>G (p.Tyr761Ter)	SNV Germline	Chr16:89284259	Pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397162774	rs_1567578243	2 SubmittersRCV000760633 RCV006694842
NM_013275.6(ANKRD11):c.424C>T (p.Gln142Ter)	SNV Germline	Chr16:89290802	Pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397167488	rs_1567592494	2 SubmittersRCV000760905 RCV001805842
NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys)	SNV Germline	Chr16:89270870	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397146565	rs_1567537304	4 SubmittersRCV000761964 RCV002272345
NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys)	SNV Germline	Chr16:89270888	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397146650	rs_1567537413	5 SubmittersRCV000761965 RCV000820125
NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu)	SNV Germline	Chr16:89280106	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA397151159	rs_1283976400	4 SubmittersRCV000818820 RCV001664438 RCV002537436 RCV005902075
NM_013275.6(ANKRD11):c.2707C>T (p.Pro903Ser)	SNV Germline	Chr16:89283835	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8242531	rs_764784295	2 SubmittersRCV000805540 RCV006265288
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile)	SNV Germline	Chr16:89305316	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8243223	rs_149152296	5 SubmittersRCV000797710 RCV001571105 RCV001816856 RCV003166159
NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)	SNV Germline	Chr16:89284215	Pathogenic/Likely pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397162676	rs_1597461100	3 SubmittersRCV000824865 RCV001090543
NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala)	SNV Germline	Chr16:89284536	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397163415	rs_1597462279	1 SubmittersRCV000850526
NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter)	SNV Germline	Chr16:89279800	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397150112	rs_1597435896	1 SubmittersRCV000851508
NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter)	SNV Germline	Chr16:89284921	Pathogenic	KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397164569	rs_1156815415	2 SubmittersRCV000856742
NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)	SNV Germline	Chr16:89285170	Pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397165093	rs_900492387	9 SubmittersRCV000856736 RCV001569459
NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg)	SNV Germline	Chr16:89282673	Conflicting classifications of pathogenicity	KBG syndrome not specified	Criteria Provided Conflicting Classifications	CA8242273	rs_764356904	2 SubmittersRCV003640943 RCV003987746
NM_013275.6(ANKRD11):c.6760G>A (p.Gly2254Arg)	SNV Germline	Chr16:89279782	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA286509813	rs_1003478010	2 SubmittersRCV002363338 RCV002540102
NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser)	SNV Germline	Chr16:89282589	Conflicting classifications of pathogenicity	KBG syndrome	Criteria Provided Conflicting Classifications	CA8242245	rs_570483616	2 SubmittersRCV001333688
NM_013275.6(ANKRD11):c.2213G>A (p.Arg738His)	SNV Germline	Chr16:89284329	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases KBG syndrome ANKRD11-related disorder not specified	Criteria Provided Conflicting Classifications	CA8242617	rs_370690185	7 SubmittersRCV000991528 RCV002427441 RCV002550627 RCV004740529 RCV006702389
NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)	SNV Germline	Chr16:89283826	Pathogenic	KBG syndrome Condition: not provided Inborn genetic diseases Monogenic short statue	Criteria Provided Multiple Submitters No Conflicts	CA397161447	rs_929007085	9 SubmittersRCV000995491 RCV003151261 RCV005367658 RCV005865444
NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter)	SNV Germline	Chr16:89283838	Pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397161625	rs_1597459649	2 SubmittersRCV000995492 RCV001268876
NM_013275.6(ANKRD11):c.7571A>G (p.Glu2524Gly)	SNV Germline	Chr16:89274956	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397147760	rs_2033513257	1 SubmittersRCV001031010
NM_013275.6(ANKRD11):c.6622T>G (p.Ser2208Ala)	SNV Germline	Chr16:89279920	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8241379	rs_778171762	3 SubmittersRCV001034330 RCV002372738 RCV003411958
NM_013275.6(ANKRD11):c.2695G>A (p.Asp899Asn)	SNV Germline	Chr16:89283847	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA397161668	rs_1423885373	3 SubmittersRCV001034115 RCV002552441 RCV006687261
NM_013275.6(ANKRD11):c.7111G>T (p.Ala2371Ser)	SNV Germline	Chr16:89279431	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8241295	rs_747911603	5 SubmittersRCV001069182 RCV002365776 RCV005865455
NM_013275.6(ANKRD11):c.6571C>T (p.Pro2191Ser)	SNV Germline	Chr16:89279971	Conflicting classifications of pathogenicity	KBG syndrome not specified	Criteria Provided Conflicting Classifications	CA8241398	rs_757615498	2 SubmittersRCV001037777 RCV006687273
NM_013275.6(ANKRD11):c.5315C>T (p.Ser1772Leu)	SNV Germline	Chr16:89281227	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241879	rs_776119333	3 SubmittersRCV001053696 RCV002348406
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)	SNV Germline	Chr16:89283523	Pathogenic/Likely pathogenic	Condition: not provided KBG syndrome Inborn genetic diseases Developmental disorder	Criteria Provided Multiple Submitters No Conflicts	CA397160785	rs_752918694	6 SubmittersRCV001090541 RCV001195875 RCV001266682 RCV003127628
NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter)	SNV Germline	Chr16:89284030	Pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397162239	rs_2034471125	4 SubmittersRCV001090542 RCV002287467
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)	SNV Germline	Chr16:89275127	Pathogenic/Likely pathogenic	KBG syndrome Condition: not provided See cases Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA397147848	rs_2033535934	8 SubmittersRCV001199356 RCV001268505 RCV003128563 RCV003373020
NM_013275.6(ANKRD11):c.3467G>A (p.Arg1156Gln)	SNV Germline	Chr16:89283075	Conflicting classifications of pathogenicity	KBG syndrome	Criteria Provided Conflicting Classifications	CA8242352	rs_775910970	2 SubmittersRCV001197512
NM_013275.6(ANKRD11):c.301G>A (p.Gly101Arg)	SNV Germline	Chr16:89291109	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA397167762	rs_1373571533	4 SubmittersRCV001198183 RCV002436773 RCV003425985
NM_013275.6(ANKRD11):c.6130G>A (p.Val2044Ile)	SNV Germline	Chr16:89280412	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241574	rs_372141194	3 SubmittersRCV001232466 RCV001547478 RCV002563225
NM_013275.6(ANKRD11):c.5833G>T (p.Glu1945Ter)	SNV Germline	Chr16:89280709	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397152628	rs_1184729090	1 SubmittersRCV001233188
NM_013275.6(ANKRD11):c.1677G>A (p.Trp559Ter)	SNV Germline	Chr16:89284865	Pathogenic	Intellectual disability KBG syndrome	Criteria Provided Single Submitter	CA397164444	rs_1411134954	2 SubmittersRCV001249519 RCV006466119
NM_013275.6(ANKRD11):c.6095C>T (p.Pro2032Leu)	SNV Germline	Chr16:89280447	Conflicting classifications of pathogenicity	Intellectual disability Condition: not provided KBG syndrome not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241592	rs_746355740	5 SubmittersRCV001251657 RCV003416125 RCV005094198 RCV005437037 RCV005601727
NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter)	SNV Germline	Chr3:9448427	Pathogenic	KBG syndrome	No Assertion Criteria Provided	CA351700754	rs_925484505	1 SubmittersRCV001261244
NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter)	SNV Unknown	Chr16:89268526	Likely pathogenic	KBG syndrome	No Assertion Criteria Provided	CA397144996	rs_972669347	1 SubmittersRCV001261291
NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)	SNV Germline	Chr16:89275098	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA397147787	rs_2033533123	4 SubmittersRCV001261290 RCV005409792
NM_013275.6(ANKRD11):c.4786G>T (p.Glu1596Ter)	SNV Germline	Chr16:89281756	Pathogenic	KBG syndrome	No Assertion Criteria Provided	CA397156803	rs_2034270521	1 SubmittersRCV001261258
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)	SNV Germline	Chr16:89282611	Pathogenic/Likely pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397158677	rs_2034353033	6 SubmittersRCV001261255 RCV002245907
NM_013275.6(ANKRD11):c.2350G>T (p.Glu784Ter)	SNV Germline	Chr16:89284192	Pathogenic	KBG syndrome	No Assertion Criteria Provided	CA397162617	rs_2034483683	1 SubmittersRCV001261250
NM_013275.6(ANKRD11):c.2299A>T (p.Lys767Ter)	SNV Germline	Chr16:89284243	Pathogenic	KBG syndrome	No Assertion Criteria Provided	CA397162732	rs_2034488113	1 SubmittersRCV001261249
NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter)	SNV Germline	Chr16:89270834	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397146388	rs_2033085976	2 SubmittersRCV001265429
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)	SNV Germline	Chr16:89275128	Pathogenic/Likely pathogenic	Sudden unexplained death in childhood Inborn genetic diseases KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397147849	rs_2033536147	9 SubmittersRCV001788440 RCV001266209 RCV002283537 RCV001788439
NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter)	SNV Germline	Chr16:89285224	Pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397165218	rs_771973198	3 SubmittersRCV001268594 RCV003526064
NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter)	SNV Germline	Chr16:89281105	Pathogenic	KBG syndrome Condition: not provided	Criteria Provided Single Submitter	CA397154223	rs_2034195603	2 SubmittersRCV001283778 RCV005645248
NM_013275.6(ANKRD11):c.6159G>C (p.Ala2053=)	SNV Germline	Chr16:89280383	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA497373275	rs_368315956	2 SubmittersRCV001287988 RCV002542987
NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter)	SNV Germline	Chr16:89282324	Pathogenic	Global developmental delay KBG syndrome ANKRD11-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA397158057	rs_764501022	3 SubmittersRCV001376680 RCV003399060 RCV003898274
NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter)	SNV Germline	Chr16:89281792	Pathogenic	KBG syndrome Condition: not provided	Criteria Provided Single Submitter	CA397156892	rs_2034272227	2 SubmittersRCV001293721 RCV003442825
NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln)	SNV Germline	Chr16:89274920	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA397147680	rs_2033511172	6 SubmittersRCV001310342 RCV002275348 RCV005660101
NM_013275.6(ANKRD11):c.6821C>G (p.Pro2274Arg)	SNV Germline	Chr16:89279721	Conflicting classifications of pathogenicity	KBG syndrome not specified	Criteria Provided Conflicting Classifications	CA397149905	rs_1325611711	2 SubmittersRCV001312971 RCV005437074
NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter)	SNV Germline	Chr16:89281397	Pathogenic	KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397155450	rs_1298649064	2 SubmittersRCV001330445
NM_013275.6(ANKRD11):c.3651C>A (p.Tyr1217Ter)	SNV Germline	Chr16:89282891	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397159321	rs_2034378960	1 SubmittersRCV001328684
NM_013275.6(ANKRD11):c.7519C>T (p.Gln2507Ter)	SNV Germline	Chr16:89275143	Pathogenic	KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA8241117	rs_572878194	2 SubmittersRCV001333694
NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter)	SNV Germline	Chr16:89280891	Pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397153333	rs_1555526636	4 SubmittersRCV001333690 RCV002307729
NM_013275.6(ANKRD11):c.5550C>G (p.Tyr1850Ter)	SNV Germline	Chr16:89280992	Pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397153743	rs_2034182420	2 SubmittersRCV001333689 RCV003327507
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser)	SNV Germline	Chr16:89283268	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242390	rs_773172347	6 SubmittersRCV001333685 RCV001552703 RCV002322263
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln)	SNV Germline	Chr16:89291034	Conflicting classifications of pathogenicity	KBG syndrome	Criteria Provided Conflicting Classifications	CA397167605	rs_1276607391	2 SubmittersRCV001333687
NM_013275.6(ANKRD11):c.87+13C>T	SNV Germline	Chr16:89316920	Conflicting classifications of pathogenicity	KBG syndrome	Criteria Provided Conflicting Classifications	CA8243278	rs_201730053	2 SubmittersRCV001333695
NM_013275.6(ANKRD11):c.7523A>T (p.Gln2508Leu)	SNV Germline	Chr16:89275139	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397147870	rs_2151703297	1 SubmittersRCV001526574
NM_013275.6(ANKRD11):c.1591G>A (p.Ala531Thr)	SNV Germline	Chr16:89284951	Conflicting classifications of pathogenicity	KBG syndrome not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA8242736	rs_756332789	3 SubmittersRCV001873770 RCV005437252 RCV001531867
NM_013275.6(ANKRD11):c.6113A>C (p.Lys2038Thr)	SNV Germline	Chr16:89280429	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241580	rs_370006772	3 SubmittersRCV001546883 RCV002359166 RCV002568285
NM_013275.6(ANKRD11):c.2028T>G (p.Asn676Lys)	SNV Germline	Chr16:89284514	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8242644	rs_754370770	2 SubmittersRCV001550535 RCV002568320
NM_013275.6(ANKRD11):c.4168G>A (p.Gly1390Ser)	SNV Germline	Chr16:89282374	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8242194	rs_201207422	3 SubmittersRCV001556751 RCV003339675 RCV006557536
NM_013275.6(ANKRD11):c.2880G>C (p.Glu960Asp)	SNV Germline	Chr16:89283662	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8242489	rs_201826191	6 SubmittersRCV001561623 RCV002440799 RCV002568409
NM_013275.6(ANKRD11):c.2833G>A (p.Ala945Thr)	SNV Germline	Chr16:89283709	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8242502	rs_201376347	2 SubmittersRCV001562671 RCV002568416
NM_013275.6(ANKRD11):c.891G>C (p.Thr297=)	SNV Germline	Chr16:89286040	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8242912	rs_191287362	2 SubmittersRCV001563237 RCV002573181
NM_013275.6(ANKRD11):c.2314C>G (p.Arg772Gly)	SNV Germline	Chr16:89284228	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8242598	rs_750596755	2 SubmittersRCV001566496 RCV002573200
NM_013275.6(ANKRD11):c.1360G>A (p.Val454Met)	SNV Germline	Chr16:89285182	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases ANKRD11-related disorder	Criteria Provided Conflicting Classifications	CA8242796	rs_149569330	6 SubmittersRCV001564223 RCV001837016 RCV002386461 RCV003966198
NM_013275.6(ANKRD11):c.6899C>T (p.Ala2300Val)	SNV Germline	Chr16:89279643	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases ANKRD11-related disorder not specified	Criteria Provided Conflicting Classifications	CA286509692	rs_903253722	5 SubmittersRCV001572151 RCV002570783 RCV002573216 RCV003966206 RCV006702644
NM_013275.6(ANKRD11):c.6896C>T (p.Ala2299Val)	SNV Germline	Chr16:89279646	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA286509699	rs_999284780	3 SubmittersRCV001571165 RCV002368592 RCV003526083
NM_013275.6(ANKRD11):c.5654G>A (p.Ser1885Asn)	SNV Germline	Chr16:89280888	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome not specified	Criteria Provided Conflicting Classifications	CA286513582	rs_113110683	3 SubmittersRCV001568913 RCV003526081 RCV006702641
NM_013275.6(ANKRD11):c.6254G>C (p.Cys2085Ser)	SNV Germline	Chr16:89280288	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241517	rs_755786402	3 SubmittersRCV001575869 RCV003640973 RCV006713610
NM_013275.6(ANKRD11):c.2917C>T (p.Arg973Trp)	SNV Germline	Chr16:89283625	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242475	rs_202099475	3 SubmittersRCV001577960 RCV001866077 RCV002440815
NM_013275.6(ANKRD11):c.809C>T (p.Pro270Leu)	SNV Germline	Chr16:89286122	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397166407	rs_1451972961	2 SubmittersRCV001574192 RCV001726600
NM_013275.6(ANKRD11):c.7806+1G>T	SNV Germline	Chr16:89270816	Pathogenic	Condition: not provided KBG syndrome	Criteria Provided Single Submitter	CA397146297	rs_2151675590	3 SubmittersRCV001580078 RCV001866094
NM_013275.6(ANKRD11):c.2890G>A (p.Gly964Ser)	SNV Germline	Chr16:89283652	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Monogenic short statue	Criteria Provided Conflicting Classifications	CA8242485	rs_375695945	4 SubmittersRCV001589338 RCV005094829 RCV006742360
NM_013275.6(ANKRD11):c.5216G>A (p.Cys1739Tyr)	SNV Germline	Chr16:89281326	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases ANKRD11-related disorder	Criteria Provided Conflicting Classifications	CA8241909	rs_757264535	4 SubmittersRCV001585200 RCV002579445 RCV002579446 RCV003910919
NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter)	SNV Germline	Chr16:89279350	Pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397149004	rs_1265287370	3 SubmittersRCV001586797 RCV001882723
NM_013275.6(ANKRD11):c.3978G>A (p.Thr1326=)	SNV Germline	Chr16:89282564	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases KBG syndrome Gastric cancer	Criteria Provided Conflicting Classifications	CA8242236	rs_200351769	4 SubmittersRCV001593602 RCV002370233 RCV003640974 RCV005919263
NM_013275.6(ANKRD11):c.2678G>A (p.Arg893Gln)	SNV Germline	Chr16:89283864	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397161721	rs_1298734986	2 SubmittersRCV001588302 RCV003526089
NM_013275.6(ANKRD11):c.7714-3C>A	SNV Germline	Chr16:89270912	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases ANKRD11-related disorder not specified Nonpapillary renal cell carcinoma Acute myeloid leukemia Melanoma	Criteria Provided Conflicting Classifications	CA8241027	rs_199741062	6 SubmittersRCV001598531 RCV001866243 RCV002405266 RCV003399410 RCV005437297 RCV005915336 RCV005915335 RCV005915337
NM_013275.6(ANKRD11):c.1403G>A (p.Arg468His)	SNV Germline	Chr16:89285139	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397165029	rs_1194186968	3 SubmittersRCV001663291 RCV005361688
NM_013275.6(ANKRD11):c.3930C>G (p.Asp1310Glu)	SNV Germline	Chr16:89282612	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8242255	rs_777949492	2 SubmittersRCV001664966 RCV002539596
NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)	SNV Germline	Chr16:89281315	Pathogenic/Likely pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397155089	rs_2151745705	3 SubmittersRCV001665461 RCV002275215
NM_013275.6(ANKRD11):c.4579G>A (p.Asp1527Asn)	SNV Germline	Chr16:89281963	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8242078	rs_777979146	2 SubmittersRCV001658871 RCV002538551
NM_013275.6(ANKRD11):c.4582G>A (p.Ala1528Thr)	SNV Germline	Chr16:89281960	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397157265	rs_2151749063	2 SubmittersRCV001732300 RCV006467805
NM_013275.6(ANKRD11):c.3944C>T (p.Pro1315Leu)	SNV Germline	Chr16:89282598	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242249	rs_186068075	3 SubmittersRCV001732712 RCV002032722 RCV002359228
NM_013275.6(ANKRD11):c.6416C>T (p.Pro2139Leu)	SNV Germline	Chr16:89280126	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8241457	rs_753112904	3 SubmittersRCV001758186 RCV005057566
NM_013275.6(ANKRD11):c.397+1G>A	SNV Germline	Chr16:89291012	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397167557	rs_2151797766	1 SubmittersRCV001775254
NM_013275.6(ANKRD11):c.226+1G>A	SNV Germline	Chr16:89305205	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397163849	rs_2151869895	1 SubmittersRCV001775380
NM_013275.6(ANKRD11):c.7407C>G (p.Tyr2469Ter)	SNV Germline	Chr16:89279135	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397148415	rs_370673579	1 SubmittersRCV001785936
NM_013275.6(ANKRD11):c.1861A>T (p.Lys621Ter)	SNV Germline	Chr16:89284681	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397163759	rs_2151762320	1 SubmittersRCV001785937
NM_013275.6(ANKRD11):c.3155T>C (p.Phe1052Ser)	SNV Germline	Chr16:89283387	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA286518367	rs_1003255370	2 SubmittersRCV001786971 RCV002541253
NM_013275.6(ANKRD11):c.5237C>A (p.Thr1746Lys)	SNV Germline	Chr16:89281305	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397155047	rs_561668093	2 SubmittersRCV001794574 RCV002541270
NM_013275.6(ANKRD11):c.4534C>T (p.Arg1512Cys)	SNV Germline	Chr16:89282008	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8242085	rs_372367879	3 SubmittersRCV001794629 RCV003136158
NM_013275.6(ANKRD11):c.2089G>T (p.Glu697Ter)	SNV Germline	Chr16:89284453	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397163224	rs_2151761457	1 SubmittersRCV001809045
NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter)	SNV Germline	Chr16:89279398	Pathogenic/Likely pathogenic	KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397149199	rs_2151730563	3 SubmittersRCV001809047
NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter)	SNV Germline	Chr16:89285533	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397165942	rs_2151766442	1 SubmittersRCV001814749
NM_013275.6(ANKRD11):c.7750G>A (p.Ala2584Thr)	SNV Germline	Chr16:89270873	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA286504588	rs_150393722	2 SubmittersRCV001822149 RCV002542494
NM_013275.6(ANKRD11):c.4970C>T (p.Ser1657Leu)	SNV Germline	Chr16:89281572	Conflicting classifications of pathogenicity	not specified KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241998	rs_749114664	3 SubmittersRCV001817366 RCV002542527 RCV004988766
NM_013275.6(ANKRD11):c.6218C>T (p.Pro2073Leu)	SNV Germline	Chr16:89280324	Conflicting classifications of pathogenicity	not specified KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241529	rs_770387752	3 SubmittersRCV001820362 RCV003136178 RCV006713704
NM_013275.6(ANKRD11):c.1232C>A (p.Ser411Ter)	SNV Germline	Chr16:89285310	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397165394	rs_1414996600	1 SubmittersRCV002275237
NM_013275.6(ANKRD11):c.2523G>A (p.Trp841Ter)	SNV Germline	Chr16:89284019	Pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397162217	rs_2151759503	2 SubmittersRCV002275238 RCV006266904
NM_013275.6(ANKRD11):c.4261G>T (p.Glu1421Ter)	SNV Germline	Chr16:89282281	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397157963	rs_148501903	1 SubmittersRCV002275260
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)	SNV Germline	Chr16:89274921	Pathogenic/Likely pathogenic	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA397147681	rs_2151701893	7 SubmittersRCV002222732 RCV002275261 RCV003163977
NM_013275.6(ANKRD11):c.1459G>T (p.Glu487Ter)	SNV Germline	Chr16:89285083	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397164911	rs_2151764291	1 SubmittersRCV002275263
NM_013275.6(ANKRD11):c.2368G>T (p.Glu790Ter)	SNV Germline	Chr16:89284174	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397162574	rs_2151760280	1 SubmittersRCV002275227
NM_013275.6(ANKRD11):c.4217A>T (p.Tyr1406Phe)	SNV Germline	Chr16:89282325	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA286516219	rs_943784682	3 SubmittersRCV001839165 RCV005361751
NM_013275.6(ANKRD11):c.3044C>T (p.Pro1015Leu)	SNV Germline	Chr16:89283498	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8242441	rs_200650209	3 SubmittersRCV002047769 RCV004694120
NM_013275.6(ANKRD11):c.1432T>C (p.Ser478Pro)	SNV Germline	Chr16:89285110	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA286521415	rs_372688828	3 SubmittersRCV001935461 RCV002555668 RCV003416576
NM_013275.6(ANKRD11):c.568G>T (p.Glu190Ter)	SNV Germline	Chr16:89290658	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397167174	rs_2151796546	1 SubmittersRCV002002346
NM_013275.6(ANKRD11):c.6623C>A (p.Ser2208Ter)	SNV Germline	Chr16:89279919	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397150348	rs_2151734908	1 SubmittersRCV001993115
NM_013275.6(ANKRD11):c.7714-1G>C	SNV Germline	Chr16:89270910	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397146723	rs_2151676035	1 SubmittersRCV001995585
NM_013275.6(ANKRD11):c.893-2A>G	SNV Germline	Chr16:89285651	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397166228	rs_2151766883	1 SubmittersRCV002041749
NM_013275.6(ANKRD11):c.3442G>A (p.Gly1148Ser)	SNV Germline	Chr16:89283100	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Multiple congenital anomalies/dysmorphic syndrome	Criteria Provided Conflicting Classifications	CA8242357	rs_143417087	3 SubmittersRCV002225956 RCV002033644 RCV005626576
NM_013275.6(ANKRD11):c.4681C>T (p.Pro1561Ser)	SNV Germline	Chr16:89281861	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8242053	rs_750132258	2 SubmittersRCV001941131 RCV004546688
NM_013275.6(ANKRD11):c.2728A>G (p.Arg910Gly)	SNV Germline	Chr16:89283814	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8242524	rs_763212052	4 SubmittersRCV001918205 RCV002425222 RCV004693929
NM_013275.6(ANKRD11):c.5197G>A (p.Ala1733Thr)	SNV Germline	Chr16:89281345	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241913	rs_780508146	2 SubmittersRCV001960861 RCV002569187
NM_013275.6(ANKRD11):c.4925C>T (p.Pro1642Leu)	SNV Germline	Chr16:89281617	Conflicting classifications of pathogenicity	KBG syndrome not specified	Criteria Provided Conflicting Classifications	CA8242015	rs_753598147	3 SubmittersRCV001981184 RCV005433595
NM_013275.6(ANKRD11):c.6766C>T (p.Gln2256Ter)	SNV Germline	Chr16:89279776	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397150064	rs_1168428802	1 SubmittersRCV002077377
NM_013275.6(ANKRD11):c.3724G>T (p.Ala1242Ser)	SNV Germline	Chr16:89282818	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA397159152	rs_1193737081	3 SubmittersRCV002222848 RCV005058156 RCV006717781
NM_013275.6(ANKRD11):c.7544T>C (p.Leu2515Pro)	SNV Germline	Chr16:89275118	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397147829	rs_2151703162	1 SubmittersRCV002226843
NM_013275.6(ANKRD11):c.5974A>C (p.Lys1992Gln)	SNV Germline	Chr16:89280568	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA286511003	rs_763207005	1 SubmittersRCV002226935
NM_013275.6(ANKRD11):c.7470+1G>C	SNV Germline	Chr16:89279071	Pathogenic	KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397148275	rs_2151728882	2 SubmittersRCV002227009
NM_013275.6(ANKRD11):c.7765T>C (p.Ser2589Pro)	SNV Germline	Chr16:89270858	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397146510	rs_2151675756	1 SubmittersRCV002248967
NM_013275.6(ANKRD11):c.744G>C (p.Lys248Asn)	SNV Germline	Chr16:89288528	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397166614	rs_2151783410	1 SubmittersRCV002267565
NM_013275.6(ANKRD11):c.7684G>A (p.Glu2562Lys)	SNV Germline	Chr16:89274843	Likely pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397147514	rs_2151701503	2 SubmittersRCV002272599 RCV005232936
NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro)	SNV Germline	Chr16:89279187	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397148532	rs_781584370	1 SubmittersRCV002272706
NM_013275.6(ANKRD11):c.6910G>A (p.Glu2304Lys)	SNV Germline	Chr16:89279632	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA286509685	rs_905177395	3 SubmittersRCV002273126 RCV003101547
NM_013275.6(ANKRD11):c.7481C>G (p.Pro2494Arg)	SNV Germline	Chr16:89275181	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397147959	rs_2151703550	1 SubmittersRCV002273362
NM_013275.6(ANKRD11):c.1669C>G (p.Pro557Ala)	SNV Germline	Chr16:89284873	Pathogenic	KBG syndrome	No Assertion Criteria Provided	CA397164460	rs_1372321169	1 SubmittersRCV003107984
NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter)	SNV Unknown	Chr16:89280883	Pathogenic	KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397153302	rs_2151742685	2 SubmittersRCV002275893
NM_013275.6(ANKRD11):c.7470+5G>C	SNV Germline	Chr16:89279067	Pathogenic	KBG syndrome EBV-positive nodal T- and NK-cell lymphoma	Criteria Provided Single Submitter	CA2580092256	rs_1555524784	2 SubmittersRCV002285202 RCV004558920
NM_013275.6(ANKRD11):c.5623G>A (p.Val1875Ile)	SNV Germline	Chr16:89280919	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241775	rs_367577142	3 SubmittersRCV002285776 RCV003526124 RCV003097692
NM_013275.6(ANKRD11):c.5146G>T (p.Glu1716Ter)	SNV Germline	Chr16:89281396	Pathogenic/Likely pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397155449	rs_2034229995	2 SubmittersRCV002287585 RCV004591867
NM_013275.6(ANKRD11):c.4306G>T (p.Glu1436Ter)	SNV Germline	Chr16:89282236	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397157859	rs_1439069684	1 SubmittersRCV002287609
NM_013275.6(ANKRD11):c.1063C>T (p.Gln355Ter)	SNV Germline	Chr16:89285479	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397165796	rs_2544246392	1 SubmittersRCV002289210
NM_013275.6(ANKRD11):c.3241G>A (p.Asp1081Asn)	SNV Germline	Chr16:89283301	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397160264	rs_1384052546	3 SubmittersRCV002324795 RCV003426385 RCV003102337
NM_013275.6(ANKRD11):c.3973T>A (p.Phe1325Ile)	SNV Germline	Chr16:89282569	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8242239	rs_138543822	2 SubmittersRCV002357719 RCV003641020
NM_013275.6(ANKRD11):c.3571G>C (p.Ala1191Pro)	SNV Germline	Chr16:89282971	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8242335	rs_753250848	2 SubmittersRCV002455017 RCV003641018
NM_013275.6(ANKRD11):c.1147A>G (p.Ile383Val)	SNV Germline	Chr16:89285395	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8242847	rs_371142732	2 SubmittersRCV002455024 RCV003099591
NM_013275.6(ANKRD11):c.5473A>G (p.Met1825Val)	SNV Germline	Chr16:89281069	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA286514027	rs_745531507	2 SubmittersRCV002349804 RCV003108034
NM_013275.6(ANKRD11):c.5911G>C (p.Val1971Leu)	SNV Germline	Chr16:89280631	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241676	rs_199737737	3 SubmittersRCV002355761 RCV003098053
NM_013275.6(ANKRD11):c.6235G>A (p.Val2079Met)	SNV Germline	Chr16:89280307	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241522	rs_375484982	2 SubmittersRCV002366592 RCV003641032
NM_013275.6(ANKRD11):c.6559C>G (p.Pro2187Ala)	SNV Germline	Chr16:89279983	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA397150589	rs_1399387605	2 SubmittersRCV002364390 RCV004720364
NM_013275.6(ANKRD11):c.4991C>T (p.Ala1664Val)	SNV Germline	Chr16:89281551	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241983	rs_201160642	2 SubmittersRCV002351369 RCV003096558
NM_013275.6(ANKRD11):c.5231A>T (p.His1744Leu)	SNV Germline	Chr16:89281311	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome ANKRD11-related disorder	Criteria Provided Conflicting Classifications	CA8241900	rs_762398457	4 SubmittersRCV002340862 RCV003096665 RCV004741284
NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)	SNV Germline	Chr16:89270887	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA397146647	rs_1250432793	4 SubmittersRCV002400752 RCV003103434 RCV004797996
NM_013275.6(ANKRD11):c.1843G>A (p.Ala615Thr)	SNV Germline	Chr16:89284699	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8242678	rs_776780527	3 SubmittersRCV002412888 RCV003418516 RCV003100883
NM_013275.6(ANKRD11):c.2706G>C (p.Glu902Asp)	SNV Germline	Chr16:89283836	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA397161617	rs_750158756	2 SubmittersRCV002437418 RCV003641049
NM_013275.6(ANKRD11):c.439C>T (p.Gln147Ter)	SNV Germline	Chr16:89290787	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397167454	rs_2544306022	1 SubmittersRCV002465455
NM_013275.6(ANKRD11):c.3812C>A (p.Ser1271Ter)	SNV Germline	Chr16:89282730	Pathogenic	KBG syndrome Paediatric disorders	Criteria Provided Multiple Submitters No Conflicts	CA397158941	rs_767520089	2 SubmittersRCV002471459 RCV006742373
NM_013275.6(ANKRD11):c.626G>A (p.Cys209Tyr)	SNV Germline	Chr16:89288646	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397167031	rs_760037330	1 SubmittersRCV002470392
NM_013275.6(ANKRD11):c.7290C>G (p.Tyr2430Ter)	SNV Germline	Chr16:89279252	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397148689	rs_766583993	1 SubmittersRCV002470545
NM_013275.6(ANKRD11):c.6496A>G (p.Met2166Val)	SNV Germline	Chr16:89280046	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241425	rs_149834477	2 SubmittersRCV003074238 RCV005655170
NM_013275.6(ANKRD11):c.2087A>C (p.Lys696Thr)	SNV Germline	Chr16:89284455	Conflicting classifications of pathogenicity	KBG syndrome ANKRD11-related disorder Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA8242635	rs_773188476	5 SubmittersRCV003091345 RCV003943772 RCV005351104 RCV005419559
NM_013275.6(ANKRD11):c.6076G>A (p.Ala2026Thr)	SNV Germline	Chr16:89280466	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241603	rs_752781169	2 SubmittersRCV002585203 RCV002585202
NM_013275.6(ANKRD11):c.2882G>A (p.Arg961His)	SNV Germline	Chr16:89283660	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242487	rs_750887042	2 SubmittersRCV002611629 RCV005602001
NM_013275.6(ANKRD11):c.6188A>G (p.Glu2063Gly)	SNV Germline	Chr16:89280354	Conflicting classifications of pathogenicity	KBG syndrome not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241544	rs_373782987	3 SubmittersRCV002629644 RCV004587444 RCV004985264
NM_013275.6(ANKRD11):c.5935C>G (p.Leu1979Val)	SNV Germline	Chr16:89280607	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8241671	rs_774653782	4 SubmittersRCV002612308 RCV004654157 RCV006733464
NM_013275.6(ANKRD11):c.1802G>A (p.Arg601Gln)	SNV Germline	Chr16:89284740	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8242693	rs_371119186	3 SubmittersRCV002739115 RCV003108230 RCV003420524
NM_013275.6(ANKRD11):c.5434C>T (p.Gln1812Ter)	SNV Germline	Chr16:89281108	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397154239	rs_2544228051	1 SubmittersRCV002601806
NM_013275.6(ANKRD11):c.1415G>A (p.Arg472Gln)	SNV Germline	Chr16:89285127	Conflicting classifications of pathogenicity	KBG syndrome not specified Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242780	rs_777453130	3 SubmittersRCV002695324 RCV003403889 RCV005655061
NM_013275.6(ANKRD11):c.4608C>A (p.Asp1536Glu)	SNV Germline	Chr16:89281934	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA397157202	rs_759416890	2 SubmittersRCV002716477 RCV005655071
NM_013275.6(ANKRD11):c.2822G>A (p.Arg941Lys)	SNV Germline	Chr16:89283720	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA286518863	rs_557043654	3 SubmittersRCV002811044 RCV006651190 RCV006721424
NM_013275.6(ANKRD11):c.6045C>A (p.Tyr2015Ter)	SNV Germline	Chr16:89280497	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397152174	rs_2544224725	1 SubmittersRCV002866452
NM_013275.6(ANKRD11):c.1373G>A (p.Arg458Gln)	SNV Germline	Chr16:89285169	Conflicting classifications of pathogenicity	KBG syndrome not specified	Criteria Provided Conflicting Classifications	CA8242794	rs_778960311	2 SubmittersRCV002867934 RCV006460276
NM_013275.6(ANKRD11):c.4912C>T (p.Pro1638Ser)	SNV Germline	Chr16:89281630	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA8242018	rs_113527563	3 SubmittersRCV002891146 RCV003418629 RCV006703256
NM_013275.6(ANKRD11):c.5990C>T (p.Ala1997Val)	SNV Germline	Chr16:89280552	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241644	rs_370272709	3 SubmittersRCV002882137 RCV004642054
NM_013275.6(ANKRD11):c.6694C>T (p.Arg2232Cys)	SNV Germline	Chr16:89279848	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241364	rs_760007187	3 SubmittersRCV002937174 RCV003418641 RCV004983187
NM_013275.6(ANKRD11):c.6307C>G (p.Leu2103Val)	SNV Germline	Chr16:89280235	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241502	rs_749215903	2 SubmittersRCV002937603 RCV004983192
NM_013275.6(ANKRD11):c.5468C>G (p.Ser1823Cys)	SNV Germline	Chr16:89281074	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241833	rs_372569223	2 SubmittersRCV002918890 RCV002918891
NM_013275.6(ANKRD11):c.7952T>C (p.Met2651Thr)	SNV Germline	Chr16:89268518	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA397144979	rs_1448454894	2 SubmittersRCV002904486 RCV005655117
NM_013275.6(ANKRD11):c.2314C>T (p.Arg772Trp)	SNV Germline	Chr16:89284228	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242597	rs_750596755	2 SubmittersRCV002962057 RCV003367922
NM_013275.6(ANKRD11):c.1079C>T (p.Pro360Leu)	SNV Germline	Chr16:89285463	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242862	rs_752417963	2 SubmittersRCV002963219 RCV005362943
NM_013275.6(ANKRD11):c.5230C>G (p.His1744Asp)	SNV Germline	Chr16:89281312	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8241901	rs_770511968	3 SubmittersRCV002970865 RCV006733412
NM_013275.6(ANKRD11):c.5480C>T (p.Pro1827Leu)	SNV Germline	Chr16:89281062	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241829	rs_778780920	2 SubmittersRCV003002816 RCV004642103
NM_013275.6(ANKRD11):c.6088G>A (p.Ala2030Thr)	SNV Germline	Chr16:89280454	Conflicting classifications of pathogenicity	Inborn genetic diseases Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA8241595	rs_747661700	3 SubmittersRCV002682681 RCV003128962 RCV003526223
NM_013275.6(ANKRD11):c.5989G>A (p.Ala1997Thr)	SNV Germline	Chr16:89280553	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241645	rs_775491352	2 SubmittersRCV002703030 RCV003641057
NM_013275.6(ANKRD11):c.6695G>C (p.Arg2232Pro)	SNV Germline	Chr16:89279847	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA286509862	rs_929429805	2 SubmittersRCV002813915 RCV005233110
NM_013275.6(ANKRD11):c.2846G>A (p.Arg949Gln)	SNV Germline	Chr16:89283696	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8242498	rs_775618210	2 SubmittersRCV002974200 RCV005098973
NM_013275.6(ANKRD11):c.5089C>T (p.Gln1697Ter)	SNV Germline	Chr16:89281453	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397155673	rs_2544229680	1 SubmittersRCV003140585
NM_013275.6(ANKRD11):c.7225G>T (p.Glu2409Ter)	SNV Germline	Chr16:89279317	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397148877	rs_2544218863	1 SubmittersRCV003132749
NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)	SNV Germline	Chr16:89282759	Conflicting classifications of pathogenicity	KBG syndrome	Criteria Provided Conflicting Classifications	CA397159010	rs_1294714307	2 SubmittersRCV003141423
NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn)	SNV Germline	Chr16:89280427	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided ANKRD11-related disorder	Criteria Provided Conflicting Classifications	CA8241579	rs_376679880	4 SubmittersRCV003141425 RCV003420581 RCV003946449
NM_013275.6(ANKRD11):c.2759G>C (p.Arg920Thr)	SNV Germline	Chr16:89283783	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA286518970	rs_773527879	2 SubmittersRCV003141426 RCV003886614
NM_013275.6(ANKRD11):c.4369A>T (p.Lys1457Ter)	SNV Unknown	Chr16:89282173	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397157726	rs_763217037	1 SubmittersRCV003148017
NM_013275.6(ANKRD11):c.5364C>G (p.Tyr1788Ter)	SNV Unknown	Chr16:89281178	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397154539	rs_958706615	1 SubmittersRCV003148031
NM_013275.6(ANKRD11):c.7663T>C (p.Cys2555Arg)	SNV Germline	Chr16:89274864	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397147559	rs_2544178749	2 SubmittersRCV003223977 RCV003988095
NM_013275.6(ANKRD11):c.4765C>T (p.Gln1589Ter)	SNV Germline	Chr16:89281777	Pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts	CA397156855	rs_2544231225	2 SubmittersRCV003223986 RCV005863850
NM_013275.6(ANKRD11):c.744+1G>T	SNV Germline	Chr16:89288527	Pathogenic	KBG syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA397166609	rs_2544278666	2 SubmittersRCV003224939 RCV005602031
NM_013275.6(ANKRD11):c.505G>T (p.Glu169Ter)	SNV Germline	Chr16:89290721	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397167304	rs_2544305829	1 SubmittersRCV003388942
NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)	SNV Germline	Chr16:89279560	Pathogenic/Likely pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397149584	rs_1567553783	3 SubmittersRCV003388945 RCV006259437
NM_013275.6(ANKRD11):c.7048C>T (p.Gln2350Ter)	SNV Germline	Chr16:89279494	Pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA397149436	rs_2544219631	2 SubmittersRCV003388946 RCV005054452
NM_013275.6(ANKRD11):c.3779C>A (p.Ser1260Ter)	SNV Germline	Chr16:89282763	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397159020	rs_2544235765	1 SubmittersRCV003388950
NM_013275.6(ANKRD11):c.4117A>T (p.Lys1373Ter)	SNV Germline	Chr16:89282425	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397158276	rs_376874848	1 SubmittersRCV003388952
NM_013275.6(ANKRD11):c.7754G>A (p.Arg2585His)	SNV Germline	Chr16:89270869	Pathogenic/Likely pathogenic	Condition: not provided ANKRD11-related disorder KBG syndrome Inborn genetic diseases	Criteria Provided Multiple Submitters No Conflicts	CA397146563	rs_1567537296	5 SubmittersRCV003236991 RCV003900993 RCV005603823 RCV005655249
NM_013275.6(ANKRD11):c.7682C>G (p.Ser2561Cys)	SNV Germline	Chr16:89274845	Conflicting classifications of pathogenicity	Inborn genetic diseases ANKRD11-related disorder KBG syndrome	Criteria Provided Conflicting Classifications	CA8241062	rs_147434505	3 SubmittersRCV003243613 RCV003395734 RCV003525382
NM_013275.6(ANKRD11):c.6620C>T (p.Pro2207Leu)	SNV Germline	Chr16:89279922	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241381	rs_771395581	2 SubmittersRCV003240439 RCV006697631
NM_013275.6(ANKRD11):c.4413C>G (p.Asp1471Glu)	SNV Germline	Chr16:89282129	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA286515892	rs_557025834	2 SubmittersRCV003341368 RCV003641089
NM_013275.6(ANKRD11):c.1825A>G (p.Ser609Gly)	SNV Germline	Chr16:89284717	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome ANKRD11-related disorder not specified	Criteria Provided Conflicting Classifications	CA8242686	rs_141168665	4 SubmittersRCV003368778 RCV003525391 RCV003954094 RCV005406669
NM_013275.6(ANKRD11):c.1970T>A (p.Phe657Tyr)	SNV Germline	Chr16:89284572	Conflicting classifications of pathogenicity	ANKRD11-related disorder KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242654	rs_374714172	3 SubmittersRCV003421148 RCV003641095 RCV005353178
NM_013275.6(ANKRD11):c.6902C>T (p.Ala2301Val)	SNV Germline	Chr16:89279640	Conflicting classifications of pathogenicity	ANKRD11-related disorder KBG syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA397149744	rs_1456207017	4 SubmittersRCV003399600 RCV003525396 RCV004985341 RCV006733581
NM_013275.6(ANKRD11):c.2557A>G (p.Lys853Glu)	SNV Germline	Chr16:89283985	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242560	rs_779145849	3 SubmittersRCV003413049 RCV005100040 RCV005353181
NM_013275.6(ANKRD11):c.6607C>T (p.Leu2203Phe)	SNV Germline	Chr16:89279935	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241385	rs_776150975	2 SubmittersRCV003526717 RCV004985396
NM_013275.6(ANKRD11):c.1609A>C (p.Ser537Arg)	SNV Germline	Chr16:89284933	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242735	rs_138975807	2 SubmittersRCV003525825 RCV004985391
NM_013275.6(ANKRD11):c.6529G>A (p.Gly2177Arg)	SNV Germline	Chr16:89280013	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA8241411	rs_752658811	3 SubmittersRCV003526908 RCV004369196 RCV004765882
NM_013275.6(ANKRD11):c.6622T>C (p.Ser2208Pro)	SNV Germline	Chr16:89279920	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA397150349	rs_778171762	2 SubmittersRCV003526917 RCV006307402
NM_013275.6(ANKRD11):c.87+6G>A	SNV Germline	Chr16:89316927	Conflicting classifications of pathogenicity	KBG syndrome not specified	Criteria Provided Conflicting Classifications	CA8243281	rs_764058065	2 SubmittersRCV003526898 RCV005435213
NM_013275.6(ANKRD11):c.4670C>T (p.Pro1557Leu)	SNV Germline	Chr16:89281872	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8242055	rs_371945379	3 SubmittersRCV003526902 RCV006733601
NM_013275.6(ANKRD11):c.5345C>T (p.Pro1782Leu)	SNV Germline	Chr16:89281197	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8241871	rs_371566102	2 SubmittersRCV003527110 RCV004636775
NM_013275.6(ANKRD11):c.6766C>G (p.Gln2256Glu)	SNV Germline	Chr16:89279776	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA397150065	rs_1168428802	2 SubmittersRCV003527293 RCV004369296
NM_013275.6(ANKRD11):c.4858C>A (p.Leu1620Ile)	SNV Germline	Chr16:89281684	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242030	rs_760243743	2 SubmittersRCV003526569 RCV005655312
NM_013275.6(ANKRD11):c.7433T>C (p.Leu2478Pro)	SNV Germline	Chr16:89279109	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397148359	rs_2544218340	1 SubmittersRCV003641780
NM_013275.6(ANKRD11):c.5524A>T (p.Lys1842Ter)	SNV Germline	Chr16:89281018	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397153860	rs_2544227565	1 SubmittersRCV003641714
NM_013275.6(ANKRD11):c.4928C>T (p.Pro1643Leu)	SNV Germline	Chr16:89281614	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242013	rs_147690079	2 SubmittersRCV003640477 RCV005602069
NM_013275.6(ANKRD11):c.1295C>T (p.Thr432Met)	SNV Germline	Chr16:89285247	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8242812	rs_148472572	2 SubmittersRCV003640451 RCV005426198
NM_013275.6(ANKRD11):c.6806G>C (p.Cys2269Ser)	SNV Germline	Chr16:89279736	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA397149937	rs_1445518002	2 SubmittersRCV003640694 RCV006714021
NM_013275.6(ANKRD11):c.4507G>A (p.Ala1503Thr)	SNV Germline	Chr16:89282035	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242093	rs_537684815	2 SubmittersRCV003640857 RCV006307435
NM_013275.6(ANKRD11):c.6733C>A (p.Pro2245Thr)	SNV Germline	Chr16:89279809	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases Condition: not provided	Criteria Provided Conflicting Classifications	CA8241350	rs_756897044	3 SubmittersRCV003642105 RCV004654324 RCV006264127
NM_013275.6(ANKRD11):c.649G>A (p.Ala217Thr)	SNV Germline	Chr16:89288623	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA397166972	rs_201064656	2 SubmittersRCV003861771 RCV004759331
NM_013275.6(ANKRD11):c.5335C>T (p.Pro1779Ser)	SNV Germline	Chr16:89281207	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA8241873	rs_147706206	3 SubmittersRCV003856677 RCV005353314 RCV006455800
NM_013275.6(ANKRD11):c.5335C>G (p.Pro1779Ala)	SNV Germline	Chr16:89281207	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA286514323	rs_147706206	2 SubmittersRCV003874319 RCV005602602
NM_013275.6(ANKRD11):c.496G>T (p.Glu166Ter)	SNV Germline	Chr16:89290730	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397167325	rs_2544305862	1 SubmittersRCV003883329
NM_013275.6(ANKRD11):c.6685G>T (p.Glu2229Ter)	SNV Germline	Chr16:89279857	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397150218	rs_1490081896	1 SubmittersRCV003883353
NM_013275.6(ANKRD11):c.5606C>G (p.Pro1869Arg)	SNV Germline	Chr16:89280936	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome	Criteria Provided Conflicting Classifications	CA397153506	rs_1486454956	2 SubmittersRCV003887067 RCV004720405
NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)	SNV Germline	Chr16:89279275	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397148741	rs_1191286670	1 SubmittersRCV003985998
NM_013275.6(ANKRD11):c.7535G>C (p.Arg2512Pro)	SNV Germline	Chr16:89275127	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397147847	rs_2033535934	1 SubmittersRCV003995136
NM_013275.6(ANKRD11):c.7590T>A (p.Cys2530Ter)	SNV Germline	Chr16:89274937	Pathogenic	KBG syndrome	Criteria Provided Single Submitter	CA397147718	rs_2151701964	1 SubmittersRCV004018029
NM_013275.6(ANKRD11):c.2918G>A (p.Arg973Gln)	SNV Germline	Chr16:89283624	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8242473	rs_769464008	2 SubmittersRCV004413638 RCV005104527
NM_013275.6(ANKRD11):c.430A>G (p.Thr144Ala)	SNV Germline	Chr16:89290796	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA397167476	rs_1258046672	3 SubmittersRCV004413711 RCV005104529 RCV005620495
NM_013275.6(ANKRD11):c.5627C>T (p.Thr1876Ile)	SNV Germline	Chr16:89280915	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications	CA8241773	rs_529132215	2 SubmittersRCV004413837 RCV006483974
NM_013275.6(ANKRD11):c.6431A>G (p.Gln2144Arg)	SNV Germline	Chr16:89280111	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA8241450	rs_765205440	3 SubmittersRCV004415909 RCV005104530 RCV004810676
NM_013275.6(ANKRD11):c.4287T>A (p.Asp1429Glu)	SNV Germline	Chr16:89282255	Conflicting classifications of pathogenicity	Condition: not provided KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA8242161	rs_369930119	3 SubmittersRCV004547167 RCV005100817 RCV006307502
NM_013275.6(ANKRD11):c.6168C>G (p.Tyr2056Ter)	SNV Unknown	Chr16:89280374	Likely pathogenic	KBG syndrome	No Assertion Criteria Provided		rs_535355840	1 SubmittersRCV004557246
NM_013275.6(ANKRD11):c.2983A>T (p.Lys995Ter)	SNV Germline	Chr16:89283559	Pathogenic	KBG syndrome	Criteria Provided Single Submitter		rs_2544239147	1 SubmittersRCV004585213
NM_013275.6(ANKRD11):c.7323C>G (p.Tyr2441Ter)	SNV Germline	Chr16:89279219	Pathogenic	KBG syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_776613041	2 SubmittersRCV004595411
NM_013275.6(ANKRD11):c.1763C>A (p.Ser588Ter)	SNV Germline	Chr16:89284779	Likely pathogenic	KBG syndrome	No Assertion Criteria Provided			1 SubmittersRCV004767608
NM_013275.6(ANKRD11):c.867C>G (p.Tyr289Ter)	SNV Germline	Chr16:89286064	Pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV004719528 RCV006646605
NM_013275.6(ANKRD11):c.316C>T (p.Arg106Ter)	SNV Germline	Chr16:89291094	Pathogenic/Likely pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV004727664 RCV004819257
NM_013275.6(ANKRD11):c.6295G>T (p.Glu2099Ter)	SNV Germline	Chr16:89280247	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004764516
NM_013275.6(ANKRD11):c.6075C>G (p.Tyr2025Ter)	SNV Germline	Chr16:89280467	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004764811
NM_013275.6(ANKRD11):c.4061C>G (p.Ser1354Ter)	SNV Germline	Chr16:89282481	Pathogenic	KBG syndrome	No Assertion Criteria Provided			1 SubmittersRCV004768465
NM_013275.6(ANKRD11):c.7660G>A (p.Ala2554Thr)	SNV Germline	Chr16:89274867	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV004789842 RCV005639601
NM_013275.6(ANKRD11):c.6360G>A (p.Trp2120Ter)	SNV Germline	Chr16:89280182	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004799048
NM_013275.6(ANKRD11):c.6628G>T (p.Glu2210Ter)	SNV Unknown	Chr16:89279914	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004819982
NM_013275.6(ANKRD11):c.7806+2T>C	SNV Germline	Chr16:89270815	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004821159
NM_013275.6(ANKRD11):c.4510A>T (p.Thr1504Ser)	SNV Germline	Chr16:89282032	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004984425 RCV006484547
NM_013275.6(ANKRD11):c.4622A>G (p.Glu1541Gly)	SNV Germline	Chr16:89281920	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004984426 RCV006484548
NM_013275.6(ANKRD11):c.3825C>G (p.Asp1275Glu)	SNV Germline	Chr16:89282717	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004984429 RCV006484549
NM_013275.6(ANKRD11):c.7806G>C (p.Lys2602Asn)	SNV Germline	Chr16:89270817	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005017892
NM_013275.6(ANKRD11):c.6843A>G (p.Gln2281=)	SNV Germline	Chr16:89279699	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005112492 RCV005000791
NM_013275.6(ANKRD11):c.2650G>A (p.Asp884Asn)	SNV Germline	Chr16:89283892	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005082417 RCV006651816
NM_013275.6(ANKRD11):c.2242C>G (p.Leu748Val)	SNV Germline	Chr16:89284300	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005080029 RCV006307584
NM_013275.6(ANKRD11):c.6319C>T (p.Arg2107Cys)	SNV Germline	Chr16:89280223	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005085663 RCV006657124
NM_013275.6(ANKRD11):c.6593G>A (p.Arg2198Gln)	SNV Germline	Chr16:89279949	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005105839 RCV005353401
NM_013275.6(ANKRD11):c.5960T>C (p.Phe1987Ser)	SNV Germline	Chr16:89280582	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications			3 SubmittersRCV005133998 RCV005244101 RCV005657481
NM_013275.6(ANKRD11):c.745-2A>G	SNV Germline	Chr16:89286188	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005125149
NM_013275.6(ANKRD11):c.3028G>T (p.Glu1010Ter)	SNV Germline	Chr16:89283514	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005139822
NM_013275.6(ANKRD11):c.112A>C (p.Lys38Gln)	SNV Germline	Chr16:89305320	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases Cervical cancer	Criteria Provided Conflicting Classifications			3 SubmittersRCV005145959 RCV006307595 RCV005937886
NM_013275.6(ANKRD11):c.3641C>T (p.Thr1214Ile)	SNV Germline	Chr16:89282901	Conflicting classifications of pathogenicity	KBG syndrome Condition: not provided	Criteria Provided Conflicting Classifications			2 SubmittersRCV005176851 RCV005861398
NM_013275.6(ANKRD11):c.1286C>A (p.Ser429Ter)	SNV Germline	Chr16:89285256	Pathogenic	KBG syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005193674 RCV005223201
NM_013275.6(ANKRD11):c.3666C>G (p.Asp1222Glu)	SNV Germline	Chr16:89282876	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005179494 RCV005365474
NM_013275.6(ANKRD11):c.4361A>G (p.Asn1454Ser)	SNV Germline	Chr16:89282181	Conflicting classifications of pathogenicity	KBG syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications			2 SubmittersRCV005202290 RCV006332491
NM_013275.6(ANKRD11):c.1357A>T (p.Lys453Ter)	SNV Germline	Chr16:89285185	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005207712
NM_013275.6(ANKRD11):c.2321C>G (p.Ser774Ter)	SNV Germline	Chr16:89284221	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005230879
NM_013275.6(ANKRD11):c.7567C>T (p.Arg2523Trp)	SNV Germline	Chr16:89275095	Pathogenic/Likely pathogenic	Condition: not provided KBG syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005233780 RCV006649041
NM_013275.6(ANKRD11):c.3342C>A (p.Tyr1114Ter)	SNV Germline	Chr16:89283200	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005403708
NM_013275.6(ANKRD11):c.745-10T>A	SNV Unknown	Chr16:89286196	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005411010
NM_013275.6(ANKRD11):c.1201A>T (p.Lys401Ter)	SNV Germline	Chr16:89285341	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005415966
NM_013275.6(ANKRD11):c.3937C>T (p.Gln1313Ter)	SNV Germline	Chr16:89282605	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005415971
NM_013275.6(ANKRD11):c.892+1G>A	SNV Germline	Chr16:89286038	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005415981
NM_013275.6(ANKRD11):c.6500C>T (p.Pro2167Leu)	SNV Germline	Chr16:89280042	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005603048 RCV006484792
NM_013275.6(ANKRD11):c.6350C>T (p.Pro2117Leu)	SNV Germline	Chr16:89280192	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005599821 RCV006632409
NM_013275.6(ANKRD11):c.6320G>A (p.Arg2107His)	SNV Germline	Chr16:89280222	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005599905 RCV006568328
NM_013275.6(ANKRD11):c.2752G>T (p.Glu918Ter)	SNV Germline	Chr16:89283790	Pathogenic	Inborn genetic diseases KBG syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005599914 RCV006737166
NM_013275.6(ANKRD11):c.7688T>A (p.Val2563Asp)	SNV Germline	Chr16:89274839	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005603989
NM_013275.6(ANKRD11):c.6227C>T (p.Pro2076Leu)	SNV Germline	Chr16:89280315	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV005659507 RCV006484979
NM_013275.6(ANKRD11):c.6382G>T (p.Glu2128Ter)	SNV Germline	Chr16:89280160	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005880799
NM_013275.6(ANKRD11):c.5553C>G (p.Tyr1851Ter)	SNV Germline	Chr16:89280989	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005880889
NM_013275.6(ANKRD11):c.4330G>T (p.Glu1444Ter)	SNV Germline	Chr16:89282212	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006257417
NM_013275.6(ANKRD11):c.3339G>A (p.Trp1113Ter)	SNV Germline	Chr16:89283203	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006257844
NM_013275.6(ANKRD11):c.1819A>T (p.Lys607Ter)	SNV Germline	Chr16:89284723	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006257845
NM_013275.6(ANKRD11):c.6610G>T (p.Glu2204Ter)	SNV Germline	Chr16:89279932	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006262288
NM_001844.5(COL2A1):c.2240G>A (p.Gly747Asp)	SNV Germline	Chr12:47982563	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006262295
NM_013275.6(ANKRD11):c.5550C>A (p.Tyr1850Ter)	SNV Germline	Chr16:89280992	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006271434
NM_013275.6(ANKRD11):c.1623G>C (p.Gln541His)	SNV Germline	Chr16:89284919	Conflicting classifications of pathogenicity	Inborn genetic diseases KBG syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV006320621 RCV006475521
NM_013275.6(ANKRD11):c.605G>A (p.Trp202Ter)	SNV Germline	Chr16:89288667	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006449759
NM_013275.6(ANKRD11):c.3520G>T (p.Glu1174Ter)	SNV Germline	Chr16:89283022	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006453329
NM_013275.6(ANKRD11):c.2086A>T (p.Lys696Ter)	SNV Germline	Chr16:89284456	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006515379
NM_013275.6(ANKRD11):c.3769A>T (p.Lys1257Ter)	SNV Germline	Chr16:89282773	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006515238
NM_013275.6(ANKRD11):c.3730A>T (p.Lys1244Ter)	SNV Germline	Chr16:89282812	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006514357
NM_013275.6(ANKRD11):c.3190G>T (p.Glu1064Ter)	SNV Germline	Chr16:89283352	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006520088
NM_013275.6(ANKRD11):c.7213C>T (p.Gln2405Ter)	SNV Germline	Chr16:89279329	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006541225
NM_013275.6(ANKRD11):c.7684G>T (p.Glu2562Ter)	SNV Germline	Chr16:89274843	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006597640
NM_013275.6(ANKRD11):c.745-2A>C	SNV Germline	Chr16:89286188	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006645652
NM_013275.6(ANKRD11):c.741C>G (p.Tyr247Ter)	SNV Unknown	Chr16:89288531	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006646854
NM_013275.6(ANKRD11):c.2233G>T (p.Glu745Ter)	SNV Germline	Chr16:89284309	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006649793
NM_013275.6(ANKRD11):c.3718G>T (p.Glu1240Ter)	SNV Unknown	Chr16:89282824	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006684100
NM_013275.6(ANKRD11):c.6418G>T (p.Glu2140Ter)	SNV Germline	Chr16:89280124	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006694750
NM_013275.6(ANKRD11):c.2428G>T (p.Glu810Ter)	SNV Germline	Chr16:89284114	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006694753
NM_013275.6(ANKRD11):c.4471G>T (p.Glu1491Ter)	SNV Germline	Chr16:89282071	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006706663
NM_013275.6(ANKRD11):c.5918G>A (p.Trp1973Ter)	SNV Germline	Chr16:89280624	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006703671
NM_013275.6(ANKRD11):c.7428C>A (p.Tyr2476Ter)	SNV Germline	Chr16:89279114	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006704002
NM_013275.6(ANKRD11):c.7569+1G>C	SNV Germline	Chr16:89275092	Likely pathogenic	KBG syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV006705266
NM_013275.6(ANKRD11):c.6623C>G (p.Ser2208Ter)	SNV Germline	Chr16:89279919	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006706324
NM_013275.6(ANKRD11):c.5036G>A (p.Trp1679Ter)	SNV Germline	Chr16:89281506	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006707231
NM_013275.6(ANKRD11):c.5225C>A (p.Ser1742Ter)	SNV Germline	Chr16:89281317	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006707282
NM_013275.6(ANKRD11):c.5657T>G (p.Leu1886Ter)	SNV Germline	Chr16:89280885	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006708627
NM_013275.6(ANKRD11):c.3364G>T (p.Glu1122Ter)	SNV Germline	Chr16:89283178	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006708629
NM_013275.6(ANKRD11):c.5638G>T (p.Glu1880Ter)	SNV Germline	Chr16:89280904	Pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006736122
NM_013275.6(ANKRD11):c.3139C>T (p.Gln1047Ter)	SNV Germline	Chr16:89283403	Likely pathogenic	KBG syndrome	Criteria Provided Single Submitter			1 SubmittersRCV006741067

NM_013275.6(ANKRD11):c.7570-1G>C

SNV
Germline

Chr16:89274958

Pathogenic

KBG syndrome

No Assertion Criteria Provided

CA278904

rs_863223319

1 SubmittersRCV000023875

NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)

SNV
Germline

Chr16:89268645

Pathogenic/Likely pathogenic

Inborn genetic diseases
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA204730

rs_797044900

4 SubmittersRCV000190724 RCV001781565

NM_013275.6(ANKRD11):c.7569+1G>A

SNV
Germline

Chr16:89275092

Pathogenic

Inborn genetic diseases
Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA204700

rs_797044890

4 SubmittersRCV000190712 RCV000335440 RCV001265123

NM_013275.6(ANKRD11):c.3098G>T (p.Ser1033Ile)

SNV
Germline

Chr16:89283444

Conflicting classifications of pathogenicity

not specified
KBG syndrome

Criteria Provided
Conflicting Classifications

CA249396

rs_201522384

2 SubmittersRCV000203190 RCV001853267

NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter)

SNV
Germline

Chr16:89280070

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA353445

rs_869312713

1 SubmittersRCV000209927

NM_013275.6(ANKRD11):c.3562C>T (p.Arg1188Ter)

SNV
Germline

Chr16:89282980

Pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603423

rs_761848111

5 SubmittersRCV000266509 RCV000578369

NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)

SNV
Germline

Chr16:89284345

Pathogenic/Likely pathogenic

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10603433

rs_886041791

8 SubmittersRCV000389598 RCV000455520 RCV000622829

NM_013275.6(ANKRD11):c.7234C>T (p.Gln2412Ter)

SNV
Germline

Chr16:89279308

Pathogenic/Likely pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA10603561

rs_886042019

2 SubmittersRCV000269007 RCV003129819

NM_013275.6(ANKRD11):c.1801C>T (p.Arg601Ter)

SNV
Germline

Chr16:89284741

Pathogenic

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA10603567

rs_772229371

6 SubmittersRCV000317010 RCV001251665 RCV004649114

NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser)

SNV
Germline

Chr16:89285409

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
ANKRD11-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242852

rs_202203523

8 SubmittersRCV000399740 RCV002519101 RCV003947839 RCV004984774

NM_013275.6(ANKRD11):c.674C>T (p.Ala225Val)

SNV
Germline

Chr16:89288598

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8243014

rs_746852311

2 SubmittersRCV000413362 RCV004594053

NM_013275.6(ANKRD11):c.3122C>A (p.Ser1041Ter)

SNV
Germline

Chr16:89283420

Pathogenic

KBG syndrome

No Assertion Criteria Provided

CA16043692

rs_1057518663

1 SubmittersRCV000414961

NM_013275.6(ANKRD11):c.7751C>A (p.Ala2584Asp)

SNV
Germline

Chr16:89270872

Likely pathogenic

KBG syndrome

No Assertion Criteria Provided

CA397146575

rs_1555521799

1 SubmittersRCV000498680

NM_013275.6(ANKRD11):c.6212C>G (p.Ser2071Ter)

SNV
Germline

Chr16:89280330

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA16044381

rs_763407068

3 SubmittersRCV000417107

NM_013275.6(ANKRD11):c.7519C>A (p.Gln2507Lys)

SNV
Germline

Chr16:89275143

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241118

rs_572878194

4 SubmittersRCV000441526 RCV002314126 RCV003766184

NM_013275.6(ANKRD11):c.7570-1G>A

SNV
Germline

Chr16:89274958

Pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA16607487

rs_863223319

2 SubmittersRCV000418665 RCV005410902

NM_013275.6(ANKRD11):c.7806+4G>A

SNV
Germline

Chr16:89270813

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
ANKRD11-related disorder

Criteria Provided
Conflicting Classifications

CA8241011

rs_373180876

4 SubmittersRCV001698191 RCV002522518 RCV003942438

NM_013275.6(ANKRD11):c.3084C>A (p.Tyr1028Ter)

SNV
Germline

Chr16:89283458

Pathogenic/Likely pathogenic

Condition: not provided
KBG syndrome
Intellectual disability

Criteria Provided
Multiple Submitters
No Conflicts

CA16620308

rs_1064793539

4 SubmittersRCV000479193 RCV000824827 RCV001249507

NM_013275.6(ANKRD11):c.7814T>G (p.Leu2605Arg)

SNV
Germline

Chr16:89268656

Conflicting classifications of pathogenicity

Condition: not provided
Intellectual disability
ANKRD11-related disorder
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397145398

rs_1131691512

4 SubmittersRCV000493206 RCV001251206 RCV003403140 RCV003766774

NM_013275.6(ANKRD11):c.7354C>G (p.Arg2452Gly)

SNV
Germline

Chr16:89279188

Pathogenic/Likely pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397148533

rs_1064795497

2 SubmittersRCV000493430 RCV002275041

NM_013275.6(ANKRD11):c.2684G>A (p.Arg895Gln)

SNV
Germline

Chr16:89283858

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases
ANKRD11-related disorder

Criteria Provided
Conflicting Classifications

CA8242536

rs_199800166

4 SubmittersRCV000493061 RCV000696596 RCV002318599 RCV003424046

NM_013275.6(ANKRD11):c.2647G>T (p.Glu883Ter)

SNV
Germline

Chr16:89283895

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397161845

rs_1135401804

1 SubmittersRCV000496122

NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter)

SNV
Germline

Chr16:89279872

Pathogenic

KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397150251

rs_1381957912

2 SubmittersRCV000503738

NM_013275.6(ANKRD11):c.3418G>A (p.Ala1140Thr)

SNV
Germline

Chr16:89283124

Conflicting classifications of pathogenicity

not specified
Condition: not provided
KBG syndrome
Inborn genetic diseases
ANKRD11-related disorder

Criteria Provided
Conflicting Classifications

CA8242370

rs_369869329

6 SubmittersRCV000502009 RCV001584210 RCV001865596 RCV002455963 RCV003932813

NM_013275.6(ANKRD11):c.2805G>A (p.Ser935=)

SNV
Germline

Chr16:89283737

Conflicting classifications of pathogenicity

not specified
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242507

rs_149751840

2 SubmittersRCV000503563 RCV002524149

NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter)

SNV
Germline

Chr16:89279695

Pathogenic

KBG syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA397149854

rs_1221781038

4 SubmittersRCV000509301 RCV000624386

NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu)

SNV
Germline

Chr16:89280430

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
ANKRD11-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241582

rs_200724087

8 SubmittersRCV000514296 RCV002060210 RCV003960211 RCV002358395

NM_013275.6(ANKRD11):c.227-5C>G

SNV
Germline

Chr16:89291188

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA624452751

rs_1303795065

2 SubmittersRCV000522416 RCV003640907

NM_013275.6(ANKRD11):c.4609G>A (p.Gly1537Ser)

SNV
Germline

Chr16:89281933

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397157201

rs_1347006212

2 SubmittersRCV000547170 RCV002316528

NM_013275.6(ANKRD11):c.4288A>T (p.Lys1430Ter)

SNV
Germline

Chr16:89282254

Likely pathogenic

KBG syndrome

No Assertion Criteria Provided

CA397157902

rs_1555527929

1 SubmittersRCV000578293

NM_013275.6(ANKRD11):c.5974A>T (p.Lys1992Ter)

SNV
Germline

Chr16:89280568

Likely pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397152308

rs_763207005

2 SubmittersRCV000578970 RCV005411495

NM_013275.6(ANKRD11):c.4087C>T (p.Arg1363Ter)

SNV
Germline

Chr16:89282455

Pathogenic

Condition: not provided
KBG syndrome
Global developmental delay

Criteria Provided
Multiple Submitters
No Conflicts

CA397158341

rs_1364690005

7 SubmittersRCV000579355 RCV001261256 RCV001376681

NM_013275.6(ANKRD11):c.1977C>G (p.Tyr659Ter)

SNV
Germline

Chr16:89284565

Pathogenic/Likely pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397163483

rs_749201074

7 SubmittersRCV000579343 RCV000763390

NM_013275.6(ANKRD11):c.7618C>T (p.Arg2540Trp)

SNV
Germline

Chr16:89274909

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397147655

rs_1555523386

5 SubmittersRCV000595302 RCV000765318

NM_013275.6(ANKRD11):c.3872A>G (p.Glu1291Gly)

SNV
Germline

Chr16:89282670

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242272

rs_377605019

2 SubmittersRCV001698043 RCV005091720

NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter)

SNV
Germline

Chr16:89279215

Pathogenic

Inborn genetic diseases
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397148601

rs_1555524861

3 SubmittersRCV000622818 RCV002510579

NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys)

SNV
Germline

Chr16:89305206

Pathogenic

Inborn genetic diseases
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397163853

rs_1555535454

2 SubmittersRCV000623658 RCV001855302

NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)

SNV
Germline

Chr16:89279623

Conflicting classifications of pathogenicity

KBG syndrome
Atypical behavior
Seizure
Macrocephaly
Global developmental delay
Hand tremor
Condition: not provided
Inborn genetic diseases
ANKRD11-related disorder

Criteria Provided
Conflicting Classifications

CA286509669

rs_575642464

10 SubmittersRCV000625153 RCV000626913 RCV000710575 RCV002317376 RCV003945569

NM_013275.6(ANKRD11):c.3706C>T (p.Gln1236Ter)

SNV
Germline

Chr16:89282836

Likely pathogenic

KBG syndrome

No Assertion Criteria Provided

CA397159193

rs_1555528356

2 SubmittersRCV000656734

NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter)

SNV
Germline

Chr16:89305272

Pathogenic

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA397164189

rs_749607205

5 SubmittersRCV000657789 RCV001218595 RCV006663099

NM_013275.6(ANKRD11):c.1679C>G (p.Ser560Ter)

SNV
Germline

Chr16:89284863

Pathogenic

KBG syndrome

No Assertion Criteria Provided

CA397164437

rs_1555529551

1 SubmittersRCV000677406

NM_013275.6(ANKRD11):c.1948C>T (p.Gln650Ter)

SNV
Germline

Chr16:89284594

Pathogenic

KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397163550

rs_1567579525

2 SubmittersRCV000679907

NM_013275.6(ANKRD11):c.893-1G>C

SNV
Germline

Chr16:89285650

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397166225

rs_1567583835

1 SubmittersRCV000679913

NM_013275.6(ANKRD11):c.867C>A (p.Tyr289Ter)

SNV
Germline

Chr16:89286064

Pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397166292

rs_761636251

3 SubmittersRCV000679912 RCV001200610

NM_013275.6(ANKRD11):c.4206C>G (p.Tyr1402Ter)

SNV
Germline

Chr16:89282336

Pathogenic

KBG syndrome
Intellectual disability
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397158076

rs_749632782

5 SubmittersRCV000703231 RCV001249512 RCV002245612

NM_013275.6(ANKRD11):c.6580C>G (p.Gln2194Glu)

SNV
Germline

Chr16:89279962

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases
ANKRD11-related disorder

Criteria Provided
Conflicting Classifications

CA8241395

rs_201589586

6 SubmittersRCV000710567 RCV000810332 RCV002317935 RCV003918146

NM_013275.6(ANKRD11):c.3197A>G (p.His1066Arg)

SNV
Germline

Chr16:89283345

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242407

rs_747326096

2 SubmittersRCV002316809 RCV006612466

NM_013275.6(ANKRD11):c.7090G>A (p.Ala2364Thr)

SNV
Germline

Chr16:89279452

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397149350

rs_999130123

2 SubmittersRCV002313519 RCV006464059

NM_013275.6(ANKRD11):c.7087C>G (p.Pro2363Ala)

SNV
Germline

Chr16:89279455

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241296

rs_769501453

4 SubmittersRCV001726322 RCV002315365 RCV002533021

NM_013275.6(ANKRD11):c.6283C>G (p.Leu2095Val)

SNV
Germline

Chr16:89280259

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241507

rs_772144411

2 SubmittersRCV002314473 RCV006464053

NM_013275.6(ANKRD11):c.3577G>A (p.Ala1193Thr)

SNV
Germline

Chr16:89282965

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242330

rs_111737495

2 SubmittersRCV002316850 RCV005092097

NM_013275.6(ANKRD11):c.3005G>A (p.Arg1002Gln)

SNV
Germline

Chr16:89283537

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242450

rs_757870881

2 SubmittersRCV000919649 RCV002312357

NM_013275.6(ANKRD11):c.5726C>T (p.Pro1909Leu)

SNV
Germline

Chr16:89280816

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241743

rs_780224924

2 SubmittersRCV002316043 RCV003525947

NM_013275.6(ANKRD11):c.1763C>T (p.Ser588Leu)

SNV
Germline

Chr16:89284779

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242700

rs_202142344

4 SubmittersRCV001862052 RCV001556943 RCV002317981

NM_013275.6(ANKRD11):c.449C>T (p.Thr150Met)

SNV
Germline

Chr16:89290777

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8243083

rs_777070083

2 SubmittersRCV002315295 RCV003525950

NM_013275.6(ANKRD11):c.3097A>T (p.Ser1033Cys)

SNV
Germline

Chr16:89283445

Conflicting classifications of pathogenicity

not specified
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242427

rs_201929972

2 SubmittersRCV000736054 RCV003640937

NM_013275.6(ANKRD11):c.2692C>T (p.Arg898Ter)

SNV
Germline

Chr16:89283850

Pathogenic

Condition: not provided
Global developmental delay
KBG syndrome
ANKRD11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA8242534

rs_780011005

8 SubmittersRCV000760640 RCV001376676 RCV001388447 RCV004723158

NM_013275.6(ANKRD11):c.2283C>G (p.Tyr761Ter)

SNV
Germline

Chr16:89284259

Pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397162774

rs_1567578243

2 SubmittersRCV000760633 RCV006694842

NM_013275.6(ANKRD11):c.424C>T (p.Gln142Ter)

SNV
Germline

Chr16:89290802

Pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397167488

rs_1567592494

2 SubmittersRCV000760905 RCV001805842

NM_013275.6(ANKRD11):c.7753C>T (p.Arg2585Cys)

SNV
Germline

Chr16:89270870

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397146565

rs_1567537304

4 SubmittersRCV000761964 RCV002272345

NM_013275.6(ANKRD11):c.7735C>T (p.Arg2579Cys)

SNV
Germline

Chr16:89270888

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397146650

rs_1567537413

5 SubmittersRCV000761965 RCV000820125

NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu)

SNV
Germline

Chr16:89280106

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA397151159

rs_1283976400

4 SubmittersRCV000818820 RCV001664438 RCV002537436 RCV005902075

NM_013275.6(ANKRD11):c.2707C>T (p.Pro903Ser)

SNV
Germline

Chr16:89283835

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8242531

rs_764784295

2 SubmittersRCV000805540 RCV006265288

NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile)

SNV
Germline

Chr16:89305316

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8243223

rs_149152296

5 SubmittersRCV000797710 RCV001571105 RCV001816856 RCV003166159

NM_013275.6(ANKRD11):c.2327T>G (p.Leu776Ter)

SNV
Germline

Chr16:89284215

Pathogenic/Likely pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397162676

rs_1597461100

3 SubmittersRCV000824865 RCV001090543

NM_013275.6(ANKRD11):c.2006A>C (p.Asp669Ala)

SNV
Germline

Chr16:89284536

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397163415

rs_1597462279

1 SubmittersRCV000850526

NM_013275.6(ANKRD11):c.6742C>T (p.Gln2248Ter)

SNV
Germline

Chr16:89279800

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397150112

rs_1597435896

1 SubmittersRCV000851508

NM_013275.6(ANKRD11):c.1621C>T (p.Gln541Ter)

SNV
Germline

Chr16:89284921

Pathogenic

KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397164569

rs_1156815415

2 SubmittersRCV000856742

NM_013275.6(ANKRD11):c.1372C>T (p.Arg458Ter)

SNV
Germline

Chr16:89285170

Pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397165093

rs_900492387

9 SubmittersRCV000856736 RCV001569459

NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg)

SNV
Germline

Chr16:89282673

Conflicting classifications of pathogenicity

KBG syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8242273

rs_764356904

2 SubmittersRCV003640943 RCV003987746

NM_013275.6(ANKRD11):c.6760G>A (p.Gly2254Arg)

SNV
Germline

Chr16:89279782

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA286509813

rs_1003478010

2 SubmittersRCV002363338 RCV002540102

NM_013275.6(ANKRD11):c.3953C>G (p.Thr1318Ser)

SNV
Germline

Chr16:89282589

Conflicting classifications of pathogenicity

KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242245

rs_570483616

2 SubmittersRCV001333688

NM_013275.6(ANKRD11):c.2213G>A (p.Arg738His)

SNV
Germline

Chr16:89284329

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
KBG syndrome
ANKRD11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8242617

rs_370690185

7 SubmittersRCV000991528 RCV002427441 RCV002550627 RCV004740529 RCV006702389

NM_013275.6(ANKRD11):c.2716C>T (p.Arg906Ter)

SNV
Germline

Chr16:89283826

Pathogenic

KBG syndrome
Condition: not provided
Inborn genetic diseases
Monogenic short statue

Criteria Provided
Multiple Submitters
No Conflicts

CA397161447

rs_929007085

9 SubmittersRCV000995491 RCV003151261 RCV005367658 RCV005865444

NM_013275.6(ANKRD11):c.2704G>T (p.Glu902Ter)

SNV
Germline

Chr16:89283838

Pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397161625

rs_1597459649

2 SubmittersRCV000995492 RCV001268876

NM_013275.6(ANKRD11):c.7571A>G (p.Glu2524Gly)

SNV
Germline

Chr16:89274956

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397147760

rs_2033513257

1 SubmittersRCV001031010

NM_013275.6(ANKRD11):c.6622T>G (p.Ser2208Ala)

SNV
Germline

Chr16:89279920

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8241379

rs_778171762

3 SubmittersRCV001034330 RCV002372738 RCV003411958

NM_013275.6(ANKRD11):c.2695G>A (p.Asp899Asn)

SNV
Germline

Chr16:89283847

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA397161668

rs_1423885373

3 SubmittersRCV001034115 RCV002552441 RCV006687261

NM_013275.6(ANKRD11):c.7111G>T (p.Ala2371Ser)

SNV
Germline

Chr16:89279431

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8241295

rs_747911603

5 SubmittersRCV001069182 RCV002365776 RCV005865455

NM_013275.6(ANKRD11):c.6571C>T (p.Pro2191Ser)

SNV
Germline

Chr16:89279971

Conflicting classifications of pathogenicity

KBG syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8241398

rs_757615498

2 SubmittersRCV001037777 RCV006687273

NM_013275.6(ANKRD11):c.5315C>T (p.Ser1772Leu)

SNV
Germline

Chr16:89281227

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241879

rs_776119333

3 SubmittersRCV001053696 RCV002348406

NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)

SNV
Germline

Chr16:89283523

Pathogenic/Likely pathogenic

Condition: not provided
KBG syndrome
Inborn genetic diseases
Developmental disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA397160785

rs_752918694

6 SubmittersRCV001090541 RCV001195875 RCV001266682 RCV003127628

NM_013275.6(ANKRD11):c.2512C>T (p.Arg838Ter)

SNV
Germline

Chr16:89284030

Pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397162239

rs_2034471125

4 SubmittersRCV001090542 RCV002287467

NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)

SNV
Germline

Chr16:89275127

Pathogenic/Likely pathogenic

KBG syndrome
Condition: not provided
See cases
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA397147848

rs_2033535934

8 SubmittersRCV001199356 RCV001268505 RCV003128563 RCV003373020

NM_013275.6(ANKRD11):c.3467G>A (p.Arg1156Gln)

SNV
Germline

Chr16:89283075

Conflicting classifications of pathogenicity

KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242352

rs_775910970

2 SubmittersRCV001197512

NM_013275.6(ANKRD11):c.301G>A (p.Gly101Arg)

SNV
Germline

Chr16:89291109

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397167762

rs_1373571533

4 SubmittersRCV001198183 RCV002436773 RCV003425985

NM_013275.6(ANKRD11):c.6130G>A (p.Val2044Ile)

SNV
Germline

Chr16:89280412

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241574

rs_372141194

3 SubmittersRCV001232466 RCV001547478 RCV002563225

NM_013275.6(ANKRD11):c.5833G>T (p.Glu1945Ter)

SNV
Germline

Chr16:89280709

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397152628

rs_1184729090

1 SubmittersRCV001233188

NM_013275.6(ANKRD11):c.1677G>A (p.Trp559Ter)

SNV
Germline

Chr16:89284865

Pathogenic

Intellectual disability
KBG syndrome

Criteria Provided
Single Submitter

CA397164444

rs_1411134954

2 SubmittersRCV001249519 RCV006466119

NM_013275.6(ANKRD11):c.6095C>T (p.Pro2032Leu)

SNV
Germline

Chr16:89280447

Conflicting classifications of pathogenicity

Intellectual disability
Condition: not provided
KBG syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241592

rs_746355740

5 SubmittersRCV001251657 RCV003416125 RCV005094198 RCV005437037 RCV005601727

NM_001080517.3(SETD5):c.2143C>T (p.Gln715Ter)

SNV
Germline

Chr3:9448427

Pathogenic

KBG syndrome

No Assertion Criteria Provided

CA351700754

rs_925484505

1 SubmittersRCV001261244

NM_013275.6(ANKRD11):c.7944C>A (p.Tyr2648Ter)

SNV
Unknown

Chr16:89268526

Likely pathogenic

KBG syndrome

No Assertion Criteria Provided

CA397144996

rs_972669347

1 SubmittersRCV001261291

NM_013275.6(ANKRD11):c.7564G>A (p.Glu2522Lys)

SNV
Germline

Chr16:89275098

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397147787

rs_2033533123

4 SubmittersRCV001261290 RCV005409792

NM_013275.6(ANKRD11):c.4786G>T (p.Glu1596Ter)

SNV
Germline

Chr16:89281756

Pathogenic

KBG syndrome

No Assertion Criteria Provided

CA397156803

rs_2034270521

1 SubmittersRCV001261258

NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)

SNV
Germline

Chr16:89282611

Pathogenic/Likely pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397158677

rs_2034353033

6 SubmittersRCV001261255 RCV002245907

NM_013275.6(ANKRD11):c.2350G>T (p.Glu784Ter)

SNV
Germline

Chr16:89284192

Pathogenic

KBG syndrome

No Assertion Criteria Provided

CA397162617

rs_2034483683

1 SubmittersRCV001261250

NM_013275.6(ANKRD11):c.2299A>T (p.Lys767Ter)

SNV
Germline

Chr16:89284243

Pathogenic

KBG syndrome

No Assertion Criteria Provided

CA397162732

rs_2034488113

1 SubmittersRCV001261249

NM_013275.6(ANKRD11):c.7789A>T (p.Lys2597Ter)

SNV
Germline

Chr16:89270834

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397146388

rs_2033085976

2 SubmittersRCV001265429

NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp)

SNV
Germline

Chr16:89275128

Pathogenic/Likely pathogenic

Sudden unexplained death in childhood
Inborn genetic diseases
KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397147849

rs_2033536147

9 SubmittersRCV001788440 RCV001266209 RCV002283537 RCV001788439

NM_013275.6(ANKRD11):c.1318C>T (p.Arg440Ter)

SNV
Germline

Chr16:89285224

Pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397165218

rs_771973198

3 SubmittersRCV001268594 RCV003526064

NM_013275.6(ANKRD11):c.5437C>T (p.Gln1813Ter)

SNV
Germline

Chr16:89281105

Pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA397154223

rs_2034195603

2 SubmittersRCV001283778 RCV005645248

NM_013275.6(ANKRD11):c.6159G>C (p.Ala2053=)

SNV
Germline

Chr16:89280383

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA497373275

rs_368315956

2 SubmittersRCV001287988 RCV002542987

NM_013275.6(ANKRD11):c.4218C>A (p.Tyr1406Ter)

SNV
Germline

Chr16:89282324

Pathogenic

Global developmental delay
KBG syndrome
ANKRD11-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA397158057

rs_764501022

3 SubmittersRCV001376680 RCV003399060 RCV003898274

NM_013275.6(ANKRD11):c.4750G>T (p.Glu1584Ter)

SNV
Germline

Chr16:89281792

Pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA397156892

rs_2034272227

2 SubmittersRCV001293721 RCV003442825

NM_013275.6(ANKRD11):c.7607G>A (p.Arg2536Gln)

SNV
Germline

Chr16:89274920

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397147680

rs_2033511172

6 SubmittersRCV001310342 RCV002275348 RCV005660101

NM_013275.6(ANKRD11):c.6821C>G (p.Pro2274Arg)

SNV
Germline

Chr16:89279721

Conflicting classifications of pathogenicity

KBG syndrome
not specified

Criteria Provided
Conflicting Classifications

CA397149905

rs_1325611711

2 SubmittersRCV001312971 RCV005437074

NM_013275.6(ANKRD11):c.5145C>G (p.Tyr1715Ter)

SNV
Germline

Chr16:89281397

Pathogenic

KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397155450

rs_1298649064

2 SubmittersRCV001330445

NM_013275.6(ANKRD11):c.3651C>A (p.Tyr1217Ter)

SNV
Germline

Chr16:89282891

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397159321

rs_2034378960

1 SubmittersRCV001328684

NM_013275.6(ANKRD11):c.7519C>T (p.Gln2507Ter)

SNV
Germline

Chr16:89275143

Pathogenic

KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA8241117

rs_572878194

2 SubmittersRCV001333694

NM_013275.6(ANKRD11):c.5651C>G (p.Ser1884Ter)

SNV
Germline

Chr16:89280891

Pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397153333

rs_1555526636

4 SubmittersRCV001333690 RCV002307729

NM_013275.6(ANKRD11):c.5550C>G (p.Tyr1850Ter)

SNV
Germline

Chr16:89280992

Pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397153743

rs_2034182420

2 SubmittersRCV001333689 RCV003327507

NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser)

SNV
Germline

Chr16:89283268

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242390

rs_773172347

6 SubmittersRCV001333685 RCV001552703 RCV002322263

NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln)

SNV
Germline

Chr16:89291034

Conflicting classifications of pathogenicity

KBG syndrome

Criteria Provided
Conflicting Classifications

CA397167605

rs_1276607391

2 SubmittersRCV001333687

NM_013275.6(ANKRD11):c.87+13C>T

SNV
Germline

Chr16:89316920

Conflicting classifications of pathogenicity

KBG syndrome

Criteria Provided
Conflicting Classifications

CA8243278

rs_201730053

2 SubmittersRCV001333695

NM_013275.6(ANKRD11):c.7523A>T (p.Gln2508Leu)

SNV
Germline

Chr16:89275139

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397147870

rs_2151703297

1 SubmittersRCV001526574

NM_013275.6(ANKRD11):c.1591G>A (p.Ala531Thr)

SNV
Germline

Chr16:89284951

Conflicting classifications of pathogenicity

KBG syndrome
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8242736

rs_756332789

3 SubmittersRCV001873770 RCV005437252 RCV001531867

NM_013275.6(ANKRD11):c.6113A>C (p.Lys2038Thr)

SNV
Germline

Chr16:89280429

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241580

rs_370006772

3 SubmittersRCV001546883 RCV002359166 RCV002568285

NM_013275.6(ANKRD11):c.2028T>G (p.Asn676Lys)

SNV
Germline

Chr16:89284514

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242644

rs_754370770

2 SubmittersRCV001550535 RCV002568320

NM_013275.6(ANKRD11):c.4168G>A (p.Gly1390Ser)

SNV
Germline

Chr16:89282374

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242194

rs_201207422

3 SubmittersRCV001556751 RCV003339675 RCV006557536

NM_013275.6(ANKRD11):c.2880G>C (p.Glu960Asp)

SNV
Germline

Chr16:89283662

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242489

rs_201826191

6 SubmittersRCV001561623 RCV002440799 RCV002568409

NM_013275.6(ANKRD11):c.2833G>A (p.Ala945Thr)

SNV
Germline

Chr16:89283709

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242502

rs_201376347

2 SubmittersRCV001562671 RCV002568416

NM_013275.6(ANKRD11):c.891G>C (p.Thr297=)

SNV
Germline

Chr16:89286040

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242912

rs_191287362

2 SubmittersRCV001563237 RCV002573181

NM_013275.6(ANKRD11):c.2314C>G (p.Arg772Gly)

SNV
Germline

Chr16:89284228

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242598

rs_750596755

2 SubmittersRCV001566496 RCV002573200

NM_013275.6(ANKRD11):c.1360G>A (p.Val454Met)

SNV
Germline

Chr16:89285182

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases
ANKRD11-related disorder

Criteria Provided
Conflicting Classifications

CA8242796

rs_149569330

6 SubmittersRCV001564223 RCV001837016 RCV002386461 RCV003966198

NM_013275.6(ANKRD11):c.6899C>T (p.Ala2300Val)

SNV
Germline

Chr16:89279643

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases
ANKRD11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA286509692

rs_903253722

5 SubmittersRCV001572151 RCV002570783 RCV002573216 RCV003966206 RCV006702644

NM_013275.6(ANKRD11):c.6896C>T (p.Ala2299Val)

SNV
Germline

Chr16:89279646

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA286509699

rs_999284780

3 SubmittersRCV001571165 RCV002368592 RCV003526083

NM_013275.6(ANKRD11):c.5654G>A (p.Ser1885Asn)

SNV
Germline

Chr16:89280888

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
not specified

Criteria Provided
Conflicting Classifications

CA286513582

rs_113110683

3 SubmittersRCV001568913 RCV003526081 RCV006702641

NM_013275.6(ANKRD11):c.6254G>C (p.Cys2085Ser)

SNV
Germline

Chr16:89280288

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241517

rs_755786402

3 SubmittersRCV001575869 RCV003640973 RCV006713610

NM_013275.6(ANKRD11):c.2917C>T (p.Arg973Trp)

SNV
Germline

Chr16:89283625

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242475

rs_202099475

3 SubmittersRCV001577960 RCV001866077 RCV002440815

NM_013275.6(ANKRD11):c.809C>T (p.Pro270Leu)

SNV
Germline

Chr16:89286122

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397166407

rs_1451972961

2 SubmittersRCV001574192 RCV001726600

NM_013275.6(ANKRD11):c.7806+1G>T

SNV
Germline

Chr16:89270816

Pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Single Submitter

CA397146297

rs_2151675590

3 SubmittersRCV001580078 RCV001866094

NM_013275.6(ANKRD11):c.2890G>A (p.Gly964Ser)

SNV
Germline

Chr16:89283652

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Monogenic short statue

Criteria Provided
Conflicting Classifications

CA8242485

rs_375695945

4 SubmittersRCV001589338 RCV005094829 RCV006742360

NM_013275.6(ANKRD11):c.5216G>A (p.Cys1739Tyr)

SNV
Germline

Chr16:89281326

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases
ANKRD11-related disorder

Criteria Provided
Conflicting Classifications

CA8241909

rs_757264535

4 SubmittersRCV001585200 RCV002579445 RCV002579446 RCV003910919

NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter)

SNV
Germline

Chr16:89279350

Pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397149004

rs_1265287370

3 SubmittersRCV001586797 RCV001882723

NM_013275.6(ANKRD11):c.3978G>A (p.Thr1326=)

SNV
Germline

Chr16:89282564

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
KBG syndrome
Gastric cancer

Criteria Provided
Conflicting Classifications

CA8242236

rs_200351769

4 SubmittersRCV001593602 RCV002370233 RCV003640974 RCV005919263

NM_013275.6(ANKRD11):c.2678G>A (p.Arg893Gln)

SNV
Germline

Chr16:89283864

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397161721

rs_1298734986

2 SubmittersRCV001588302 RCV003526089

NM_013275.6(ANKRD11):c.7714-3C>A

SNV
Germline

Chr16:89270912

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases
ANKRD11-related disorder
not specified
Nonpapillary renal cell carcinoma
Acute myeloid leukemia
Melanoma

Criteria Provided
Conflicting Classifications

CA8241027

rs_199741062

6 SubmittersRCV001598531 RCV001866243 RCV002405266 RCV003399410 RCV005437297 RCV005915336 RCV005915335 RCV005915337

NM_013275.6(ANKRD11):c.1403G>A (p.Arg468His)

SNV
Germline

Chr16:89285139

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397165029

rs_1194186968

3 SubmittersRCV001663291 RCV005361688

NM_013275.6(ANKRD11):c.3930C>G (p.Asp1310Glu)

SNV
Germline

Chr16:89282612

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242255

rs_777949492

2 SubmittersRCV001664966 RCV002539596

NM_013275.6(ANKRD11):c.5227C>T (p.Gln1743Ter)

SNV
Germline

Chr16:89281315

Pathogenic/Likely pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397155089

rs_2151745705

3 SubmittersRCV001665461 RCV002275215

NM_013275.6(ANKRD11):c.4579G>A (p.Asp1527Asn)

SNV
Germline

Chr16:89281963

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242078

rs_777979146

2 SubmittersRCV001658871 RCV002538551

NM_013275.6(ANKRD11):c.4582G>A (p.Ala1528Thr)

SNV
Germline

Chr16:89281960

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397157265

rs_2151749063

2 SubmittersRCV001732300 RCV006467805

NM_013275.6(ANKRD11):c.3944C>T (p.Pro1315Leu)

SNV
Germline

Chr16:89282598

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242249

rs_186068075

3 SubmittersRCV001732712 RCV002032722 RCV002359228

NM_013275.6(ANKRD11):c.6416C>T (p.Pro2139Leu)

SNV
Germline

Chr16:89280126

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241457

rs_753112904

3 SubmittersRCV001758186 RCV005057566

NM_013275.6(ANKRD11):c.397+1G>A

SNV
Germline

Chr16:89291012

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397167557

rs_2151797766

1 SubmittersRCV001775254

NM_013275.6(ANKRD11):c.226+1G>A

SNV
Germline

Chr16:89305205

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397163849

rs_2151869895

1 SubmittersRCV001775380

NM_013275.6(ANKRD11):c.7407C>G (p.Tyr2469Ter)

SNV
Germline

Chr16:89279135

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397148415

rs_370673579

1 SubmittersRCV001785936

NM_013275.6(ANKRD11):c.1861A>T (p.Lys621Ter)

SNV
Germline

Chr16:89284681

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397163759

rs_2151762320

1 SubmittersRCV001785937

NM_013275.6(ANKRD11):c.3155T>C (p.Phe1052Ser)

SNV
Germline

Chr16:89283387

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA286518367

rs_1003255370

2 SubmittersRCV001786971 RCV002541253

NM_013275.6(ANKRD11):c.5237C>A (p.Thr1746Lys)

SNV
Germline

Chr16:89281305

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397155047

rs_561668093

2 SubmittersRCV001794574 RCV002541270

NM_013275.6(ANKRD11):c.4534C>T (p.Arg1512Cys)

SNV
Germline

Chr16:89282008

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242085

rs_372367879

3 SubmittersRCV001794629 RCV003136158

NM_013275.6(ANKRD11):c.2089G>T (p.Glu697Ter)

SNV
Germline

Chr16:89284453

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397163224

rs_2151761457

1 SubmittersRCV001809045

NM_013275.6(ANKRD11):c.7144C>T (p.Gln2382Ter)

SNV
Germline

Chr16:89279398

Pathogenic/Likely pathogenic

KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397149199

rs_2151730563

3 SubmittersRCV001809047

NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter)

SNV
Germline

Chr16:89285533

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397165942

rs_2151766442

1 SubmittersRCV001814749

NM_013275.6(ANKRD11):c.7750G>A (p.Ala2584Thr)

SNV
Germline

Chr16:89270873

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA286504588

rs_150393722

2 SubmittersRCV001822149 RCV002542494

NM_013275.6(ANKRD11):c.4970C>T (p.Ser1657Leu)

SNV
Germline

Chr16:89281572

Conflicting classifications of pathogenicity

not specified
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241998

rs_749114664

3 SubmittersRCV001817366 RCV002542527 RCV004988766

NM_013275.6(ANKRD11):c.6218C>T (p.Pro2073Leu)

SNV
Germline

Chr16:89280324

Conflicting classifications of pathogenicity

not specified
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241529

rs_770387752

3 SubmittersRCV001820362 RCV003136178 RCV006713704

NM_013275.6(ANKRD11):c.1232C>A (p.Ser411Ter)

SNV
Germline

Chr16:89285310

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397165394

rs_1414996600

1 SubmittersRCV002275237

NM_013275.6(ANKRD11):c.2523G>A (p.Trp841Ter)

SNV
Germline

Chr16:89284019

Pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397162217

rs_2151759503

2 SubmittersRCV002275238 RCV006266904

NM_013275.6(ANKRD11):c.4261G>T (p.Glu1421Ter)

SNV
Germline

Chr16:89282281

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397157963

rs_148501903

1 SubmittersRCV002275260

NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)

SNV
Germline

Chr16:89274921

Pathogenic/Likely pathogenic

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA397147681

rs_2151701893

7 SubmittersRCV002222732 RCV002275261 RCV003163977

NM_013275.6(ANKRD11):c.1459G>T (p.Glu487Ter)

SNV
Germline

Chr16:89285083

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397164911

rs_2151764291

1 SubmittersRCV002275263

NM_013275.6(ANKRD11):c.2368G>T (p.Glu790Ter)

SNV
Germline

Chr16:89284174

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397162574

rs_2151760280

1 SubmittersRCV002275227

NM_013275.6(ANKRD11):c.4217A>T (p.Tyr1406Phe)

SNV
Germline

Chr16:89282325

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA286516219

rs_943784682

3 SubmittersRCV001839165 RCV005361751

NM_013275.6(ANKRD11):c.3044C>T (p.Pro1015Leu)

SNV
Germline

Chr16:89283498

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8242441

rs_200650209

3 SubmittersRCV002047769 RCV004694120

NM_013275.6(ANKRD11):c.1432T>C (p.Ser478Pro)

SNV
Germline

Chr16:89285110

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286521415

rs_372688828

3 SubmittersRCV001935461 RCV002555668 RCV003416576

NM_013275.6(ANKRD11):c.568G>T (p.Glu190Ter)

SNV
Germline

Chr16:89290658

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397167174

rs_2151796546

1 SubmittersRCV002002346

NM_013275.6(ANKRD11):c.6623C>A (p.Ser2208Ter)

SNV
Germline

Chr16:89279919

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397150348

rs_2151734908

1 SubmittersRCV001993115

NM_013275.6(ANKRD11):c.7714-1G>C

SNV
Germline

Chr16:89270910

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397146723

rs_2151676035

1 SubmittersRCV001995585

NM_013275.6(ANKRD11):c.893-2A>G

SNV
Germline

Chr16:89285651

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397166228

rs_2151766883

1 SubmittersRCV002041749

NM_013275.6(ANKRD11):c.3442G>A (p.Gly1148Ser)

SNV
Germline

Chr16:89283100

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Multiple congenital anomalies/dysmorphic syndrome

Criteria Provided
Conflicting Classifications

CA8242357

rs_143417087

3 SubmittersRCV002225956 RCV002033644 RCV005626576

NM_013275.6(ANKRD11):c.4681C>T (p.Pro1561Ser)

SNV
Germline

Chr16:89281861

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8242053

rs_750132258

2 SubmittersRCV001941131 RCV004546688

NM_013275.6(ANKRD11):c.2728A>G (p.Arg910Gly)

SNV
Germline

Chr16:89283814

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8242524

rs_763212052

4 SubmittersRCV001918205 RCV002425222 RCV004693929

NM_013275.6(ANKRD11):c.5197G>A (p.Ala1733Thr)

SNV
Germline

Chr16:89281345

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241913

rs_780508146

2 SubmittersRCV001960861 RCV002569187

NM_013275.6(ANKRD11):c.4925C>T (p.Pro1642Leu)

SNV
Germline

Chr16:89281617

Conflicting classifications of pathogenicity

KBG syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8242015

rs_753598147

3 SubmittersRCV001981184 RCV005433595

NM_013275.6(ANKRD11):c.6766C>T (p.Gln2256Ter)

SNV
Germline

Chr16:89279776

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397150064

rs_1168428802

1 SubmittersRCV002077377

NM_013275.6(ANKRD11):c.3724G>T (p.Ala1242Ser)

SNV
Germline

Chr16:89282818

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397159152

rs_1193737081

3 SubmittersRCV002222848 RCV005058156 RCV006717781

NM_013275.6(ANKRD11):c.7544T>C (p.Leu2515Pro)

SNV
Germline

Chr16:89275118

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397147829

rs_2151703162

1 SubmittersRCV002226843

NM_013275.6(ANKRD11):c.5974A>C (p.Lys1992Gln)

SNV
Germline

Chr16:89280568

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA286511003

rs_763207005

1 SubmittersRCV002226935

NM_013275.6(ANKRD11):c.7470+1G>C

SNV
Germline

Chr16:89279071

Pathogenic

KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397148275

rs_2151728882

2 SubmittersRCV002227009

NM_013275.6(ANKRD11):c.7765T>C (p.Ser2589Pro)

SNV
Germline

Chr16:89270858

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397146510

rs_2151675756

1 SubmittersRCV002248967

NM_013275.6(ANKRD11):c.744G>C (p.Lys248Asn)

SNV
Germline

Chr16:89288528

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397166614

rs_2151783410

1 SubmittersRCV002267565

NM_013275.6(ANKRD11):c.7684G>A (p.Glu2562Lys)

SNV
Germline

Chr16:89274843

Likely pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397147514

rs_2151701503

2 SubmittersRCV002272599 RCV005232936

NM_013275.6(ANKRD11):c.7355G>C (p.Arg2452Pro)

SNV
Germline

Chr16:89279187

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397148532

rs_781584370

1 SubmittersRCV002272706

NM_013275.6(ANKRD11):c.6910G>A (p.Glu2304Lys)

SNV
Germline

Chr16:89279632

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA286509685

rs_905177395

3 SubmittersRCV002273126 RCV003101547

NM_013275.6(ANKRD11):c.7481C>G (p.Pro2494Arg)

SNV
Germline

Chr16:89275181

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397147959

rs_2151703550

1 SubmittersRCV002273362

NM_013275.6(ANKRD11):c.1669C>G (p.Pro557Ala)

SNV
Germline

Chr16:89284873

Pathogenic

KBG syndrome

No Assertion Criteria Provided

CA397164460

rs_1372321169

1 SubmittersRCV003107984

NM_013275.6(ANKRD11):c.5659C>T (p.Gln1887Ter)

SNV
Unknown

Chr16:89280883

Pathogenic

KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397153302

rs_2151742685

2 SubmittersRCV002275893

NM_013275.6(ANKRD11):c.7470+5G>C

SNV
Germline

Chr16:89279067

Pathogenic

KBG syndrome
EBV-positive nodal T- and NK-cell lymphoma

Criteria Provided
Single Submitter

CA2580092256

rs_1555524784

2 SubmittersRCV002285202 RCV004558920

NM_013275.6(ANKRD11):c.5623G>A (p.Val1875Ile)

SNV
Germline

Chr16:89280919

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241775

rs_367577142

3 SubmittersRCV002285776 RCV003526124 RCV003097692

NM_013275.6(ANKRD11):c.5146G>T (p.Glu1716Ter)

SNV
Germline

Chr16:89281396

Pathogenic/Likely pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397155449

rs_2034229995

2 SubmittersRCV002287585 RCV004591867

NM_013275.6(ANKRD11):c.4306G>T (p.Glu1436Ter)

SNV
Germline

Chr16:89282236

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397157859

rs_1439069684

1 SubmittersRCV002287609

NM_013275.6(ANKRD11):c.1063C>T (p.Gln355Ter)

SNV
Germline

Chr16:89285479

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397165796

rs_2544246392

1 SubmittersRCV002289210

NM_013275.6(ANKRD11):c.3241G>A (p.Asp1081Asn)

SNV
Germline

Chr16:89283301

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397160264

rs_1384052546

3 SubmittersRCV002324795 RCV003426385 RCV003102337

NM_013275.6(ANKRD11):c.3973T>A (p.Phe1325Ile)

SNV
Germline

Chr16:89282569

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242239

rs_138543822

2 SubmittersRCV002357719 RCV003641020

NM_013275.6(ANKRD11):c.3571G>C (p.Ala1191Pro)

SNV
Germline

Chr16:89282971

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242335

rs_753250848

2 SubmittersRCV002455017 RCV003641018

NM_013275.6(ANKRD11):c.1147A>G (p.Ile383Val)

SNV
Germline

Chr16:89285395

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242847

rs_371142732

2 SubmittersRCV002455024 RCV003099591

NM_013275.6(ANKRD11):c.5473A>G (p.Met1825Val)

SNV
Germline

Chr16:89281069

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA286514027

rs_745531507

2 SubmittersRCV002349804 RCV003108034

NM_013275.6(ANKRD11):c.5911G>C (p.Val1971Leu)

SNV
Germline

Chr16:89280631

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241676

rs_199737737

3 SubmittersRCV002355761 RCV003098053

NM_013275.6(ANKRD11):c.6235G>A (p.Val2079Met)

SNV
Germline

Chr16:89280307

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241522

rs_375484982

2 SubmittersRCV002366592 RCV003641032

NM_013275.6(ANKRD11):c.6559C>G (p.Pro2187Ala)

SNV
Germline

Chr16:89279983

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397150589

rs_1399387605

2 SubmittersRCV002364390 RCV004720364

NM_013275.6(ANKRD11):c.4991C>T (p.Ala1664Val)

SNV
Germline

Chr16:89281551

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241983

rs_201160642

2 SubmittersRCV002351369 RCV003096558

NM_013275.6(ANKRD11):c.5231A>T (p.His1744Leu)

SNV
Germline

Chr16:89281311

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome
ANKRD11-related disorder

Criteria Provided
Conflicting Classifications

CA8241900

rs_762398457

4 SubmittersRCV002340862 RCV003096665 RCV004741284

NM_013275.6(ANKRD11):c.7736G>A (p.Arg2579His)

SNV
Germline

Chr16:89270887

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397146647

rs_1250432793

4 SubmittersRCV002400752 RCV003103434 RCV004797996

NM_013275.6(ANKRD11):c.1843G>A (p.Ala615Thr)

SNV
Germline

Chr16:89284699

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242678

rs_776780527

3 SubmittersRCV002412888 RCV003418516 RCV003100883

NM_013275.6(ANKRD11):c.2706G>C (p.Glu902Asp)

SNV
Germline

Chr16:89283836

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397161617

rs_750158756

2 SubmittersRCV002437418 RCV003641049

NM_013275.6(ANKRD11):c.439C>T (p.Gln147Ter)

SNV
Germline

Chr16:89290787

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397167454

rs_2544306022

1 SubmittersRCV002465455

NM_013275.6(ANKRD11):c.3812C>A (p.Ser1271Ter)

SNV
Germline

Chr16:89282730

Pathogenic

KBG syndrome
Paediatric disorders

Criteria Provided
Multiple Submitters
No Conflicts

CA397158941

rs_767520089

2 SubmittersRCV002471459 RCV006742373

NM_013275.6(ANKRD11):c.626G>A (p.Cys209Tyr)

SNV
Germline

Chr16:89288646

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397167031

rs_760037330

1 SubmittersRCV002470392

NM_013275.6(ANKRD11):c.7290C>G (p.Tyr2430Ter)

SNV
Germline

Chr16:89279252

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397148689

rs_766583993

1 SubmittersRCV002470545

NM_013275.6(ANKRD11):c.6496A>G (p.Met2166Val)

SNV
Germline

Chr16:89280046

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241425

rs_149834477

2 SubmittersRCV003074238 RCV005655170

NM_013275.6(ANKRD11):c.2087A>C (p.Lys696Thr)

SNV
Germline

Chr16:89284455

Conflicting classifications of pathogenicity

KBG syndrome
ANKRD11-related disorder
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8242635

rs_773188476

5 SubmittersRCV003091345 RCV003943772 RCV005351104 RCV005419559

NM_013275.6(ANKRD11):c.6076G>A (p.Ala2026Thr)

SNV
Germline

Chr16:89280466

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241603

rs_752781169

2 SubmittersRCV002585203 RCV002585202

NM_013275.6(ANKRD11):c.2882G>A (p.Arg961His)

SNV
Germline

Chr16:89283660

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242487

rs_750887042

2 SubmittersRCV002611629 RCV005602001

NM_013275.6(ANKRD11):c.6188A>G (p.Glu2063Gly)

SNV
Germline

Chr16:89280354

Conflicting classifications of pathogenicity

KBG syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241544

rs_373782987

3 SubmittersRCV002629644 RCV004587444 RCV004985264

NM_013275.6(ANKRD11):c.5935C>G (p.Leu1979Val)

SNV
Germline

Chr16:89280607

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8241671

rs_774653782

4 SubmittersRCV002612308 RCV004654157 RCV006733464

NM_013275.6(ANKRD11):c.1802G>A (p.Arg601Gln)

SNV
Germline

Chr16:89284740

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8242693

rs_371119186

3 SubmittersRCV002739115 RCV003108230 RCV003420524

NM_013275.6(ANKRD11):c.5434C>T (p.Gln1812Ter)

SNV
Germline

Chr16:89281108

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397154239

rs_2544228051

1 SubmittersRCV002601806

NM_013275.6(ANKRD11):c.1415G>A (p.Arg472Gln)

SNV
Germline

Chr16:89285127

Conflicting classifications of pathogenicity

KBG syndrome
not specified
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242780

rs_777453130

3 SubmittersRCV002695324 RCV003403889 RCV005655061

NM_013275.6(ANKRD11):c.4608C>A (p.Asp1536Glu)

SNV
Germline

Chr16:89281934

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397157202

rs_759416890

2 SubmittersRCV002716477 RCV005655071

NM_013275.6(ANKRD11):c.2822G>A (p.Arg941Lys)

SNV
Germline

Chr16:89283720

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA286518863

rs_557043654

3 SubmittersRCV002811044 RCV006651190 RCV006721424

NM_013275.6(ANKRD11):c.6045C>A (p.Tyr2015Ter)

SNV
Germline

Chr16:89280497

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397152174

rs_2544224725

1 SubmittersRCV002866452

NM_013275.6(ANKRD11):c.1373G>A (p.Arg458Gln)

SNV
Germline

Chr16:89285169

Conflicting classifications of pathogenicity

KBG syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8242794

rs_778960311

2 SubmittersRCV002867934 RCV006460276

NM_013275.6(ANKRD11):c.4912C>T (p.Pro1638Ser)

SNV
Germline

Chr16:89281630

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA8242018

rs_113527563

3 SubmittersRCV002891146 RCV003418629 RCV006703256

NM_013275.6(ANKRD11):c.5990C>T (p.Ala1997Val)

SNV
Germline

Chr16:89280552

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241644

rs_370272709

3 SubmittersRCV002882137 RCV004642054

NM_013275.6(ANKRD11):c.6694C>T (p.Arg2232Cys)

SNV
Germline

Chr16:89279848

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241364

rs_760007187

3 SubmittersRCV002937174 RCV003418641 RCV004983187

NM_013275.6(ANKRD11):c.6307C>G (p.Leu2103Val)

SNV
Germline

Chr16:89280235

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241502

rs_749215903

2 SubmittersRCV002937603 RCV004983192

NM_013275.6(ANKRD11):c.5468C>G (p.Ser1823Cys)

SNV
Germline

Chr16:89281074

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241833

rs_372569223

2 SubmittersRCV002918890 RCV002918891

NM_013275.6(ANKRD11):c.7952T>C (p.Met2651Thr)

SNV
Germline

Chr16:89268518

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397144979

rs_1448454894

2 SubmittersRCV002904486 RCV005655117

NM_013275.6(ANKRD11):c.2314C>T (p.Arg772Trp)

SNV
Germline

Chr16:89284228

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242597

rs_750596755

2 SubmittersRCV002962057 RCV003367922

NM_013275.6(ANKRD11):c.1079C>T (p.Pro360Leu)

SNV
Germline

Chr16:89285463

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242862

rs_752417963

2 SubmittersRCV002963219 RCV005362943

NM_013275.6(ANKRD11):c.5230C>G (p.His1744Asp)

SNV
Germline

Chr16:89281312

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8241901

rs_770511968

3 SubmittersRCV002970865 RCV006733412

NM_013275.6(ANKRD11):c.5480C>T (p.Pro1827Leu)

SNV
Germline

Chr16:89281062

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241829

rs_778780920

2 SubmittersRCV003002816 RCV004642103

NM_013275.6(ANKRD11):c.6088G>A (p.Ala2030Thr)

SNV
Germline

Chr16:89280454

Conflicting classifications of pathogenicity

Inborn genetic diseases
Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241595

rs_747661700

3 SubmittersRCV002682681 RCV003128962 RCV003526223

NM_013275.6(ANKRD11):c.5989G>A (p.Ala1997Thr)

SNV
Germline

Chr16:89280553

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241645

rs_775491352

2 SubmittersRCV002703030 RCV003641057

NM_013275.6(ANKRD11):c.6695G>C (p.Arg2232Pro)

SNV
Germline

Chr16:89279847

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA286509862

rs_929429805

2 SubmittersRCV002813915 RCV005233110

NM_013275.6(ANKRD11):c.2846G>A (p.Arg949Gln)

SNV
Germline

Chr16:89283696

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242498

rs_775618210

2 SubmittersRCV002974200 RCV005098973

NM_013275.6(ANKRD11):c.5089C>T (p.Gln1697Ter)

SNV
Germline

Chr16:89281453

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397155673

rs_2544229680

1 SubmittersRCV003140585

NM_013275.6(ANKRD11):c.7225G>T (p.Glu2409Ter)

SNV
Germline

Chr16:89279317

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397148877

rs_2544218863

1 SubmittersRCV003132749

NM_013275.6(ANKRD11):c.3783C>G (p.Asp1261Glu)

SNV
Germline

Chr16:89282759

Conflicting classifications of pathogenicity

KBG syndrome

Criteria Provided
Conflicting Classifications

CA397159010

rs_1294714307

2 SubmittersRCV003141423

NM_013275.6(ANKRD11):c.6115G>A (p.Asp2039Asn)

SNV
Germline

Chr16:89280427

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided
ANKRD11-related disorder

Criteria Provided
Conflicting Classifications

CA8241579

rs_376679880

4 SubmittersRCV003141425 RCV003420581 RCV003946449

NM_013275.6(ANKRD11):c.2759G>C (p.Arg920Thr)

SNV
Germline

Chr16:89283783

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA286518970

rs_773527879

2 SubmittersRCV003141426 RCV003886614

NM_013275.6(ANKRD11):c.4369A>T (p.Lys1457Ter)

SNV
Unknown

Chr16:89282173

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397157726

rs_763217037

1 SubmittersRCV003148017

NM_013275.6(ANKRD11):c.5364C>G (p.Tyr1788Ter)

SNV
Unknown

Chr16:89281178

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397154539

rs_958706615

1 SubmittersRCV003148031

NM_013275.6(ANKRD11):c.7663T>C (p.Cys2555Arg)

SNV
Germline

Chr16:89274864

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397147559

rs_2544178749

2 SubmittersRCV003223977 RCV003988095

NM_013275.6(ANKRD11):c.4765C>T (p.Gln1589Ter)

SNV
Germline

Chr16:89281777

Pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA397156855

rs_2544231225

2 SubmittersRCV003223986 RCV005863850

NM_013275.6(ANKRD11):c.744+1G>T

SNV
Germline

Chr16:89288527

Pathogenic

KBG syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA397166609

rs_2544278666

2 SubmittersRCV003224939 RCV005602031

NM_013275.6(ANKRD11):c.505G>T (p.Glu169Ter)

SNV
Germline

Chr16:89290721

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397167304

rs_2544305829

1 SubmittersRCV003388942

NM_013275.6(ANKRD11):c.6982C>T (p.Arg2328Ter)

SNV
Germline

Chr16:89279560

Pathogenic/Likely pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397149584

rs_1567553783

3 SubmittersRCV003388945 RCV006259437

NM_013275.6(ANKRD11):c.7048C>T (p.Gln2350Ter)

SNV
Germline

Chr16:89279494

Pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA397149436

rs_2544219631

2 SubmittersRCV003388946 RCV005054452

NM_013275.6(ANKRD11):c.3779C>A (p.Ser1260Ter)

SNV
Germline

Chr16:89282763

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397159020

rs_2544235765

1 SubmittersRCV003388950

NM_013275.6(ANKRD11):c.4117A>T (p.Lys1373Ter)

SNV
Germline

Chr16:89282425

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397158276

rs_376874848

1 SubmittersRCV003388952

NM_013275.6(ANKRD11):c.7754G>A (p.Arg2585His)

SNV
Germline

Chr16:89270869

Pathogenic/Likely pathogenic

Condition: not provided
ANKRD11-related disorder
KBG syndrome
Inborn genetic diseases

Criteria Provided
Multiple Submitters
No Conflicts

CA397146563

rs_1567537296

5 SubmittersRCV003236991 RCV003900993 RCV005603823 RCV005655249

NM_013275.6(ANKRD11):c.7682C>G (p.Ser2561Cys)

SNV
Germline

Chr16:89274845

Conflicting classifications of pathogenicity

Inborn genetic diseases
ANKRD11-related disorder
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241062

rs_147434505

3 SubmittersRCV003243613 RCV003395734 RCV003525382

NM_013275.6(ANKRD11):c.6620C>T (p.Pro2207Leu)

SNV
Germline

Chr16:89279922

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241381

rs_771395581

2 SubmittersRCV003240439 RCV006697631

NM_013275.6(ANKRD11):c.4413C>G (p.Asp1471Glu)

SNV
Germline

Chr16:89282129

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA286515892

rs_557025834

2 SubmittersRCV003341368 RCV003641089

NM_013275.6(ANKRD11):c.1825A>G (p.Ser609Gly)

SNV
Germline

Chr16:89284717

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome
ANKRD11-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA8242686

rs_141168665

4 SubmittersRCV003368778 RCV003525391 RCV003954094 RCV005406669

NM_013275.6(ANKRD11):c.1970T>A (p.Phe657Tyr)

SNV
Germline

Chr16:89284572

Conflicting classifications of pathogenicity

ANKRD11-related disorder
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242654

rs_374714172

3 SubmittersRCV003421148 RCV003641095 RCV005353178

NM_013275.6(ANKRD11):c.6902C>T (p.Ala2301Val)

SNV
Germline

Chr16:89279640

Conflicting classifications of pathogenicity

ANKRD11-related disorder
KBG syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397149744

rs_1456207017

4 SubmittersRCV003399600 RCV003525396 RCV004985341 RCV006733581

NM_013275.6(ANKRD11):c.2557A>G (p.Lys853Glu)

SNV
Germline

Chr16:89283985

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242560

rs_779145849

3 SubmittersRCV003413049 RCV005100040 RCV005353181

NM_013275.6(ANKRD11):c.6607C>T (p.Leu2203Phe)

SNV
Germline

Chr16:89279935

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241385

rs_776150975

2 SubmittersRCV003526717 RCV004985396

NM_013275.6(ANKRD11):c.1609A>C (p.Ser537Arg)

SNV
Germline

Chr16:89284933

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242735

rs_138975807

2 SubmittersRCV003525825 RCV004985391

NM_013275.6(ANKRD11):c.6529G>A (p.Gly2177Arg)

SNV
Germline

Chr16:89280013

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8241411

rs_752658811

3 SubmittersRCV003526908 RCV004369196 RCV004765882

NM_013275.6(ANKRD11):c.6622T>C (p.Ser2208Pro)

SNV
Germline

Chr16:89279920

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397150349

rs_778171762

2 SubmittersRCV003526917 RCV006307402

NM_013275.6(ANKRD11):c.87+6G>A

SNV
Germline

Chr16:89316927

Conflicting classifications of pathogenicity

KBG syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8243281

rs_764058065

2 SubmittersRCV003526898 RCV005435213

NM_013275.6(ANKRD11):c.4670C>T (p.Pro1557Leu)

SNV
Germline

Chr16:89281872

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8242055

rs_371945379

3 SubmittersRCV003526902 RCV006733601

NM_013275.6(ANKRD11):c.5345C>T (p.Pro1782Leu)

SNV
Germline

Chr16:89281197

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8241871

rs_371566102

2 SubmittersRCV003527110 RCV004636775

NM_013275.6(ANKRD11):c.6766C>G (p.Gln2256Glu)

SNV
Germline

Chr16:89279776

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397150065

rs_1168428802

2 SubmittersRCV003527293 RCV004369296

NM_013275.6(ANKRD11):c.4858C>A (p.Leu1620Ile)

SNV
Germline

Chr16:89281684

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242030

rs_760243743

2 SubmittersRCV003526569 RCV005655312

NM_013275.6(ANKRD11):c.7433T>C (p.Leu2478Pro)

SNV
Germline

Chr16:89279109

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397148359

rs_2544218340

1 SubmittersRCV003641780

NM_013275.6(ANKRD11):c.5524A>T (p.Lys1842Ter)

SNV
Germline

Chr16:89281018

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397153860

rs_2544227565

1 SubmittersRCV003641714

NM_013275.6(ANKRD11):c.4928C>T (p.Pro1643Leu)

SNV
Germline

Chr16:89281614

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242013

rs_147690079

2 SubmittersRCV003640477 RCV005602069

NM_013275.6(ANKRD11):c.1295C>T (p.Thr432Met)

SNV
Germline

Chr16:89285247

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8242812

rs_148472572

2 SubmittersRCV003640451 RCV005426198

NM_013275.6(ANKRD11):c.6806G>C (p.Cys2269Ser)

SNV
Germline

Chr16:89279736

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA397149937

rs_1445518002

2 SubmittersRCV003640694 RCV006714021

NM_013275.6(ANKRD11):c.4507G>A (p.Ala1503Thr)

SNV
Germline

Chr16:89282035

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242093

rs_537684815

2 SubmittersRCV003640857 RCV006307435

NM_013275.6(ANKRD11):c.6733C>A (p.Pro2245Thr)

SNV
Germline

Chr16:89279809

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8241350

rs_756897044

3 SubmittersRCV003642105 RCV004654324 RCV006264127

NM_013275.6(ANKRD11):c.649G>A (p.Ala217Thr)

SNV
Germline

Chr16:89288623

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397166972

rs_201064656

2 SubmittersRCV003861771 RCV004759331

NM_013275.6(ANKRD11):c.5335C>T (p.Pro1779Ser)

SNV
Germline

Chr16:89281207

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA8241873

rs_147706206

3 SubmittersRCV003856677 RCV005353314 RCV006455800

NM_013275.6(ANKRD11):c.5335C>G (p.Pro1779Ala)

SNV
Germline

Chr16:89281207

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA286514323

rs_147706206

2 SubmittersRCV003874319 RCV005602602

NM_013275.6(ANKRD11):c.496G>T (p.Glu166Ter)

SNV
Germline

Chr16:89290730

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397167325

rs_2544305862

1 SubmittersRCV003883329

NM_013275.6(ANKRD11):c.6685G>T (p.Glu2229Ter)

SNV
Germline

Chr16:89279857

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397150218

rs_1490081896

1 SubmittersRCV003883353

NM_013275.6(ANKRD11):c.5606C>G (p.Pro1869Arg)

SNV
Germline

Chr16:89280936

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome

Criteria Provided
Conflicting Classifications

CA397153506

rs_1486454956

2 SubmittersRCV003887067 RCV004720405

NM_013275.6(ANKRD11):c.7267A>T (p.Lys2423Ter)

SNV
Germline

Chr16:89279275

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397148741

rs_1191286670

1 SubmittersRCV003985998

NM_013275.6(ANKRD11):c.7535G>C (p.Arg2512Pro)

SNV
Germline

Chr16:89275127

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397147847

rs_2033535934

1 SubmittersRCV003995136

NM_013275.6(ANKRD11):c.7590T>A (p.Cys2530Ter)

SNV
Germline

Chr16:89274937

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

CA397147718

rs_2151701964

1 SubmittersRCV004018029

NM_013275.6(ANKRD11):c.2918G>A (p.Arg973Gln)

SNV
Germline

Chr16:89283624

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8242473

rs_769464008

2 SubmittersRCV004413638 RCV005104527

NM_013275.6(ANKRD11):c.430A>G (p.Thr144Ala)

SNV
Germline

Chr16:89290796

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA397167476

rs_1258046672

3 SubmittersRCV004413711 RCV005104529 RCV005620495

NM_013275.6(ANKRD11):c.5627C>T (p.Thr1876Ile)

SNV
Germline

Chr16:89280915

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

CA8241773

rs_529132215

2 SubmittersRCV004413837 RCV006483974

NM_013275.6(ANKRD11):c.6431A>G (p.Gln2144Arg)

SNV
Germline

Chr16:89280111

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8241450

rs_765205440

3 SubmittersRCV004415909 RCV005104530 RCV004810676

NM_013275.6(ANKRD11):c.4287T>A (p.Asp1429Glu)

SNV
Germline

Chr16:89282255

Conflicting classifications of pathogenicity

Condition: not provided
KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA8242161

rs_369930119

3 SubmittersRCV004547167 RCV005100817 RCV006307502

NM_013275.6(ANKRD11):c.6168C>G (p.Tyr2056Ter)

SNV
Unknown

Chr16:89280374

Likely pathogenic

KBG syndrome

No Assertion Criteria Provided

rs_535355840

1 SubmittersRCV004557246

NM_013275.6(ANKRD11):c.2983A>T (p.Lys995Ter)

SNV
Germline

Chr16:89283559

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

rs_2544239147

1 SubmittersRCV004585213

NM_013275.6(ANKRD11):c.7323C>G (p.Tyr2441Ter)

SNV
Germline

Chr16:89279219

Pathogenic

KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_776613041

2 SubmittersRCV004595411

NM_013275.6(ANKRD11):c.1763C>A (p.Ser588Ter)

SNV
Germline

Chr16:89284779

Likely pathogenic

KBG syndrome

No Assertion Criteria Provided

1 SubmittersRCV004767608

NM_013275.6(ANKRD11):c.867C>G (p.Tyr289Ter)

SNV
Germline

Chr16:89286064

Pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004719528 RCV006646605

NM_013275.6(ANKRD11):c.316C>T (p.Arg106Ter)

SNV
Germline

Chr16:89291094

Pathogenic/Likely pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV004727664 RCV004819257

NM_013275.6(ANKRD11):c.6295G>T (p.Glu2099Ter)

SNV
Germline

Chr16:89280247

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004764516

NM_013275.6(ANKRD11):c.6075C>G (p.Tyr2025Ter)

SNV
Germline

Chr16:89280467

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004764811

NM_013275.6(ANKRD11):c.4061C>G (p.Ser1354Ter)

SNV
Germline

Chr16:89282481

Pathogenic

KBG syndrome

No Assertion Criteria Provided

1 SubmittersRCV004768465

NM_013275.6(ANKRD11):c.7660G>A (p.Ala2554Thr)

SNV
Germline

Chr16:89274867

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004789842 RCV005639601

NM_013275.6(ANKRD11):c.6360G>A (p.Trp2120Ter)

SNV
Germline

Chr16:89280182

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004799048

NM_013275.6(ANKRD11):c.6628G>T (p.Glu2210Ter)

SNV
Unknown

Chr16:89279914

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004819982

NM_013275.6(ANKRD11):c.7806+2T>C

SNV
Germline

Chr16:89270815

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004821159

NM_013275.6(ANKRD11):c.4510A>T (p.Thr1504Ser)

SNV
Germline

Chr16:89282032

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004984425 RCV006484547

NM_013275.6(ANKRD11):c.4622A>G (p.Glu1541Gly)

SNV
Germline

Chr16:89281920

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004984426 RCV006484548

NM_013275.6(ANKRD11):c.3825C>G (p.Asp1275Glu)

SNV
Germline

Chr16:89282717

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004984429 RCV006484549

NM_013275.6(ANKRD11):c.7806G>C (p.Lys2602Asn)

SNV
Germline

Chr16:89270817

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005017892

NM_013275.6(ANKRD11):c.6843A>G (p.Gln2281=)

SNV
Germline

Chr16:89279699

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005112492 RCV005000791

NM_013275.6(ANKRD11):c.2650G>A (p.Asp884Asn)

SNV
Germline

Chr16:89283892

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005082417 RCV006651816

NM_013275.6(ANKRD11):c.2242C>G (p.Leu748Val)

SNV
Germline

Chr16:89284300

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005080029 RCV006307584

NM_013275.6(ANKRD11):c.6319C>T (p.Arg2107Cys)

SNV
Germline

Chr16:89280223

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005085663 RCV006657124

NM_013275.6(ANKRD11):c.6593G>A (p.Arg2198Gln)

SNV
Germline

Chr16:89279949

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005105839 RCV005353401

NM_013275.6(ANKRD11):c.5960T>C (p.Phe1987Ser)

SNV
Germline

Chr16:89280582

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005133998 RCV005244101 RCV005657481

NM_013275.6(ANKRD11):c.745-2A>G

SNV
Germline

Chr16:89286188

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005125149

NM_013275.6(ANKRD11):c.3028G>T (p.Glu1010Ter)

SNV
Germline

Chr16:89283514

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005139822

NM_013275.6(ANKRD11):c.112A>C (p.Lys38Gln)

SNV
Germline

Chr16:89305320

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases
Cervical cancer

Criteria Provided
Conflicting Classifications

3 SubmittersRCV005145959 RCV006307595 RCV005937886

NM_013275.6(ANKRD11):c.3641C>T (p.Thr1214Ile)

SNV
Germline

Chr16:89282901

Conflicting classifications of pathogenicity

KBG syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005176851 RCV005861398

NM_013275.6(ANKRD11):c.1286C>A (p.Ser429Ter)

SNV
Germline

Chr16:89285256

Pathogenic

KBG syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005193674 RCV005223201

NM_013275.6(ANKRD11):c.3666C>G (p.Asp1222Glu)

SNV
Germline

Chr16:89282876

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005179494 RCV005365474

NM_013275.6(ANKRD11):c.4361A>G (p.Asn1454Ser)

SNV
Germline

Chr16:89282181

Conflicting classifications of pathogenicity

KBG syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005202290 RCV006332491

NM_013275.6(ANKRD11):c.1357A>T (p.Lys453Ter)

SNV
Germline

Chr16:89285185

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005207712

NM_013275.6(ANKRD11):c.2321C>G (p.Ser774Ter)

SNV
Germline

Chr16:89284221

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005230879

NM_013275.6(ANKRD11):c.7567C>T (p.Arg2523Trp)

SNV
Germline

Chr16:89275095

Pathogenic/Likely pathogenic

Condition: not provided
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005233780 RCV006649041

NM_013275.6(ANKRD11):c.3342C>A (p.Tyr1114Ter)

SNV
Germline

Chr16:89283200

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005403708

NM_013275.6(ANKRD11):c.745-10T>A

SNV
Unknown

Chr16:89286196

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005411010

NM_013275.6(ANKRD11):c.1201A>T (p.Lys401Ter)

SNV
Germline

Chr16:89285341

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005415966

NM_013275.6(ANKRD11):c.3937C>T (p.Gln1313Ter)

SNV
Germline

Chr16:89282605

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005415971

NM_013275.6(ANKRD11):c.892+1G>A

SNV
Germline

Chr16:89286038

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005415981

NM_013275.6(ANKRD11):c.6500C>T (p.Pro2167Leu)

SNV
Germline

Chr16:89280042

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005603048 RCV006484792

NM_013275.6(ANKRD11):c.6350C>T (p.Pro2117Leu)

SNV
Germline

Chr16:89280192

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005599821 RCV006632409

NM_013275.6(ANKRD11):c.6320G>A (p.Arg2107His)

SNV
Germline

Chr16:89280222

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005599905 RCV006568328

NM_013275.6(ANKRD11):c.2752G>T (p.Glu918Ter)

SNV
Germline

Chr16:89283790

Pathogenic

Inborn genetic diseases
KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005599914 RCV006737166

NM_013275.6(ANKRD11):c.7688T>A (p.Val2563Asp)

SNV
Germline

Chr16:89274839

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005603989

NM_013275.6(ANKRD11):c.6227C>T (p.Pro2076Leu)

SNV
Germline

Chr16:89280315

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV005659507 RCV006484979

NM_013275.6(ANKRD11):c.6382G>T (p.Glu2128Ter)

SNV
Germline

Chr16:89280160

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005880799

NM_013275.6(ANKRD11):c.5553C>G (p.Tyr1851Ter)

SNV
Germline

Chr16:89280989

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005880889

NM_013275.6(ANKRD11):c.4330G>T (p.Glu1444Ter)

SNV
Germline

Chr16:89282212

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006257417

NM_013275.6(ANKRD11):c.3339G>A (p.Trp1113Ter)

SNV
Germline

Chr16:89283203

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006257844

NM_013275.6(ANKRD11):c.1819A>T (p.Lys607Ter)

SNV
Germline

Chr16:89284723

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006257845

NM_013275.6(ANKRD11):c.6610G>T (p.Glu2204Ter)

SNV
Germline

Chr16:89279932

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006262288

NM_001844.5(COL2A1):c.2240G>A (p.Gly747Asp)

SNV
Germline

Chr12:47982563

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006262295

NM_013275.6(ANKRD11):c.5550C>A (p.Tyr1850Ter)

SNV
Germline

Chr16:89280992

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006271434

NM_013275.6(ANKRD11):c.1623G>C (p.Gln541His)

SNV
Germline

Chr16:89284919

Conflicting classifications of pathogenicity

Inborn genetic diseases
KBG syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV006320621 RCV006475521

NM_013275.6(ANKRD11):c.605G>A (p.Trp202Ter)

SNV
Germline

Chr16:89288667

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006449759

NM_013275.6(ANKRD11):c.3520G>T (p.Glu1174Ter)

SNV
Germline

Chr16:89283022

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006453329

NM_013275.6(ANKRD11):c.2086A>T (p.Lys696Ter)

SNV
Germline

Chr16:89284456

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006515379

NM_013275.6(ANKRD11):c.3769A>T (p.Lys1257Ter)

SNV
Germline

Chr16:89282773

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006515238

NM_013275.6(ANKRD11):c.3730A>T (p.Lys1244Ter)

SNV
Germline

Chr16:89282812

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006514357

NM_013275.6(ANKRD11):c.3190G>T (p.Glu1064Ter)

SNV
Germline

Chr16:89283352

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006520088

NM_013275.6(ANKRD11):c.7213C>T (p.Gln2405Ter)

SNV
Germline

Chr16:89279329

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006541225

NM_013275.6(ANKRD11):c.7684G>T (p.Glu2562Ter)

SNV
Germline

Chr16:89274843

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006597640

NM_013275.6(ANKRD11):c.745-2A>C

SNV
Germline

Chr16:89286188

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006645652

NM_013275.6(ANKRD11):c.741C>G (p.Tyr247Ter)

SNV
Unknown

Chr16:89288531

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006646854

NM_013275.6(ANKRD11):c.2233G>T (p.Glu745Ter)

SNV
Germline

Chr16:89284309

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006649793

NM_013275.6(ANKRD11):c.3718G>T (p.Glu1240Ter)

SNV
Unknown

Chr16:89282824

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006684100

NM_013275.6(ANKRD11):c.6418G>T (p.Glu2140Ter)

SNV
Germline

Chr16:89280124

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006694750

NM_013275.6(ANKRD11):c.2428G>T (p.Glu810Ter)

SNV
Germline

Chr16:89284114

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006694753

NM_013275.6(ANKRD11):c.4471G>T (p.Glu1491Ter)

SNV
Germline

Chr16:89282071

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006706663

NM_013275.6(ANKRD11):c.5918G>A (p.Trp1973Ter)

SNV
Germline

Chr16:89280624

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006703671

NM_013275.6(ANKRD11):c.7428C>A (p.Tyr2476Ter)

SNV
Germline

Chr16:89279114

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006704002

NM_013275.6(ANKRD11):c.7569+1G>C

SNV
Germline

Chr16:89275092

Likely pathogenic

KBG syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV006705266

NM_013275.6(ANKRD11):c.6623C>G (p.Ser2208Ter)

SNV
Germline

Chr16:89279919

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006706324

NM_013275.6(ANKRD11):c.5036G>A (p.Trp1679Ter)

SNV
Germline

Chr16:89281506

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006707231

NM_013275.6(ANKRD11):c.5225C>A (p.Ser1742Ter)

SNV
Germline

Chr16:89281317

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006707282

NM_013275.6(ANKRD11):c.5657T>G (p.Leu1886Ter)

SNV
Germline

Chr16:89280885

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006708627

NM_013275.6(ANKRD11):c.3364G>T (p.Glu1122Ter)

SNV
Germline

Chr16:89283178

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006708629

NM_013275.6(ANKRD11):c.5638G>T (p.Glu1880Ter)

SNV
Germline

Chr16:89280904

Pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006736122

NM_013275.6(ANKRD11):c.3139C>T (p.Gln1047Ter)

SNV
Germline

Chr16:89283403

Likely pathogenic

KBG syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV006741067