Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_198525.3(KIF7):c.460C>T (p.Arg154Ter)	SNV Germline	Chr15:89649810	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA020407	rs_387907044	2 SubmittersRCV000023882
NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter)	SNV Germline	Chr15:89631605	Pathogenic	Acrocallosal syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA020318	rs_387907045	4 SubmittersRCV000023883 RCV003329235
NM_198525.3(KIF7):c.3021C>T (p.Ile1007=)	SNV Germline	Chr15:89631585	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome KIF7-related disorder	Criteria Provided Conflicting Classifications	CA020335	rs_142488318	4 SubmittersRCV000082816 RCV001437227 RCV003905074
NM_198525.3(KIF7):c.516G>A (p.Glu172=)	SNV Germline	Chr15:89649754	Conflicting classifications of pathogenicity	not specified Acrocallosal syndrome KIF7-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA020421	rs_199959946	6 SubmittersRCV000193296 RCV000887476 RCV003935073 RCV003390782
NM_198525.3(KIF7):c.612C>T (p.His204=)	SNV Germline	Chr15:89649285	Conflicting classifications of pathogenicity	not specified Acrocallosal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA020433	rs_398124613	5 SubmittersRCV000247230 RCV001086808 RCV000723616
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)	SNV Germline	Chr15:89648478	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome Inborn genetic diseases not specified	Criteria Provided Conflicting Classifications	CA020189	rs_587780375	6 SubmittersRCV000117411 RCV001083297 RCV002528215 RCV001199843
NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp)	SNV Germline	Chr15:89642361	Conflicting classifications of pathogenicity	Condition: not provided Multiple epiphyseal dysplasia, Al-Gazali type Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA020259	rs_141867330	6 SubmittersRCV000724188 RCV001328837 RCV002516619
NM_198525.3(KIF7):c.2586C>T (p.Arg862=)	SNV Germline	Chr15:89633692	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome KIF7-related disorder	Criteria Provided Conflicting Classifications	CA020278	rs_141097070	3 SubmittersRCV000174427 RCV001425627 RCV004742308
NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr)	SNV Germline	Chr15:89633187	Conflicting classifications of pathogenicity	Condition: not provided Multiple epiphyseal dysplasia, Al-Gazali type Acrocallosal syndrome Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications	CA020289	rs_143250090	7 SubmittersRCV000724190 RCV001328838 RCV002516636 RCV005008097
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)	SNV Germline	Chr15:89631625	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided Intellectual disability	Criteria Provided Conflicting Classifications	CA020312	rs_138410949	8 SubmittersRCV000201541 RCV000513744 RCV001252541
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)	SNV Germline	Chr15:89628453	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome Intellectual disability KIF7-related disorder	Criteria Provided Conflicting Classifications	CA020398	rs_145726393	6 SubmittersRCV000175494 RCV001083648 RCV001252540 RCV003895188
NM_198525.3(KIF7):c.3665-5G>A	SNV Germline	Chr15:89628791	Conflicting classifications of pathogenicity	not specified Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA020374	rs_79532879	5 SubmittersRCV000245295 RCV000724100 RCV001088380
NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)	SNV Germline	Chr15:89628537	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA020385	rs_138993311	4 SubmittersRCV000175496 RCV000302149 RCV002516679
NM_198525.3(KIF7):c.3795G>A (p.Thr1265=)	SNV Germline	Chr15:89628656	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome KIF7-related disorder	Criteria Provided Conflicting Classifications	CA020380	rs_148749994	3 SubmittersRCV000175497 RCV002056935 RCV003947485
NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)	SNV Germline	Chr15:89628507	Conflicting classifications of pathogenicity	Acrocallosal syndrome not specified KIF7-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA020390	rs_150248985	9 SubmittersRCV000529413 RCV000175498 RCV004725027 RCV001200207
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter)	SNV Germline	Chr15:89652870	Pathogenic/Likely pathogenic	Condition: not provided Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020438	rs_794727316	5 SubmittersRCV000355275 RCV005016520 RCV001852164
NM_198525.3(KIF7):c.336C>T (p.Leu112=)	SNV Germline	Chr15:89649934	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA020362	rs_794727530	2 SubmittersRCV000177432 RCV001078892
NM_198525.3(KIF7):c.510A>G (p.Glu170=)	SNV Germline	Chr15:89649760	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA020417	rs_761029778	3 SubmittersRCV000177433 RCV002054090
NM_198525.3(KIF7):c.1360C>T (p.Leu454=)	SNV Germline	Chr15:89648338	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA020203	rs_794727743	2 SubmittersRCV000179056 RCV002516786
NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter)	SNV Germline	Chr15:89631662	Pathogenic	Acrocallosal syndrome KIF7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA276009	rs_797045093	3 SubmittersRCV000190601 RCV004742322
NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter)	SNV Germline	Chr15:89629561	Pathogenic	Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277688	rs_778139192	6 SubmittersRCV000201533
NM_198525.3(KIF7):c.2917C>T (p.Arg973Ter)	SNV Germline	Chr15:89631689	Pathogenic	Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA277751	rs_202229910	2 SubmittersRCV000201660
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)	SNV Germline	Chr15:89633777	Conflicting classifications of pathogenicity	not specified Condition: not provided Acrocallosal syndrome Nephronophthisis Intellectual disability	Criteria Provided Conflicting Classifications	CA7728123	rs_138354681	10 SubmittersRCV000239249 RCV000514812 RCV001086870 RCV001328108 RCV005625482
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)	SNV Germline	Chr15:89628491	Conflicting classifications of pathogenicity	not specified Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7727468	rs_141028210	6 SubmittersRCV000250252 RCV000724872 RCV000337447
NM_198525.3(KIF7):c.2192-13C>T	SNV Germline	Chr15:89642418	Conflicting classifications of pathogenicity	not specified Acrocallosal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7728276	rs_201251064	8 SubmittersRCV000251118 RCV000368532 RCV001699093
NM_198525.3(KIF7):c.2079C>A (p.Val693=)	SNV Germline	Chr15:89645125	Conflicting classifications of pathogenicity	not specified Acrocallosal syndrome Condition: not provided Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728334	rs_113112856	5 SubmittersRCV000254086 RCV001422422 RCV000878309 RCV005008221
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)	SNV Germline	Chr15:89648521	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type Acrocallosal syndrome Inborn genetic diseases Hydrolethalus syndrome Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728582	rs_553968087	8 SubmittersRCV000298981 RCV000725358 RCV000764005 RCV002521914 RCV003483603
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)	SNV Germline	Chr15:89642360	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728260	rs_151317163	6 SubmittersRCV000725501 RCV001084827
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)	SNV Germline	Chr15:89629378	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided KIF7-related disorder Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7727686	rs_138196132	11 SubmittersRCV000305823 RCV000725922 RCV003930127 RCV004984779
NM_198525.3(KIF7):c.2861C>T (p.Thr954Met)	SNV Germline	Chr15:89632854	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7727926	rs_141463861	5 SubmittersRCV000364818 RCV001121707 RCV004629176
NM_198525.3(KIF7):c.1444-9G>A	SNV Germline	Chr15:89647721	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728562	rs_761796364	2 SubmittersRCV000396565 RCV003514345
NM_198525.3(KIF7):c.72A>C (p.Pro24=)	SNV Germline	Chr15:89652859	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728691	rs_773325406	4 SubmittersRCV000389628 RCV001413056 RCV005016679
NM_198525.3(KIF7):c.3759C>G (p.Pro1253=)	SNV Germline	Chr15:89628692	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7727547	rs_147767277	2 SubmittersRCV000359297
NM_198525.3(KIF7):c.1290C>T (p.Pro430=)	SNV Germline	Chr15:89648408	Conflicting classifications of pathogenicity	Acrocallosal syndrome not specified	Criteria Provided Conflicting Classifications	CA10636657	rs_886051534	3 SubmittersRCV000344719 RCV000602014
NM_198525.3(KIF7):c.1221C>T (p.Ala407=)	SNV Germline	Chr15:89648477	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA10636659	rs_886051535	2 SubmittersRCV000283817
NM_198525.3(KIF7):c.952G>A (p.Ala318Thr)	SNV Germline	Chr15:89648746	Conflicting classifications of pathogenicity	Acrocallosal syndrome KIF7-related disorder Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications	CA7728596	rs_756368261	4 SubmittersRCV000368715 RCV003920336 RCV005016695
NM_198525.3(KIF7):c.418C>T (p.Leu140=)	SNV Germline	Chr15:89649852	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA10636661	rs_756117745	2 SubmittersRCV000380290
NM_198525.3(KIF7):c.924-14C>T	SNV Germline	Chr15:89648788	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728598	rs_573998309	2 SubmittersRCV000274114
NM_198525.3(KIF7):c.3112-10G>A	SNV Germline	Chr15:89630503	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA10646690	rs_370548253	2 SubmittersRCV000367113
NM_198525.3(KIF7):c.2613G>A (p.Glu871=)	SNV Germline	Chr15:89633246	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7728063	rs_370595622	4 SubmittersRCV000282043 RCV001706496
NM_198525.3(KIF7):c.2364G>C (p.Arg788Ser)	SNV Germline	Chr15:89642233	Conflicting classifications of pathogenicity	Acrocallosal syndrome Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7728219	rs_117123311	4 SubmittersRCV000285504 RCV005010277 RCV004772895
NM_198525.3(KIF7):c.1296G>A (p.Leu432=)	SNV Germline	Chr15:89648402	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided KIF7-related disorder	Criteria Provided Conflicting Classifications	CA10646692	rs_886051533	5 SubmittersRCV000287338 RCV001546168 RCV003920335
NM_198525.3(KIF7):c.960G>A (p.Thr320=)	SNV Germline	Chr15:89648738	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA10646693	rs_886051538	2 SubmittersRCV000314210
NM_198525.3(KIF7):c.3957G>T (p.Gly1319=)	SNV Germline	Chr15:89628494	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA10647474	rs_886051529	2 SubmittersRCV000404350
NM_198525.3(KIF7):c.2337G>A (p.Glu779=)	SNV Germline	Chr15:89642260	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7728232	rs_202089770	4 SubmittersRCV000402656 RCV003391144 RCV004984810
NM_198525.3(KIF7):c.2322C>A (p.Leu774=)	SNV Germline	Chr15:89642275	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728236	rs_145339415	2 SubmittersRCV000308193
NM_198525.3(KIF7):c.2079C>T (p.Val693=)	SNV Germline	Chr15:89645125	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728336	rs_113112856	2 SubmittersRCV000276498
NM_198525.3(KIF7):c.1390A>G (p.Ile464Val)	SNV Germline	Chr15:89648308	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728580	rs_570856269	2 SubmittersRCV000322469
NM_198525.3(KIF7):c.1218C>G (p.Gly406=)	SNV Germline	Chr15:89648480	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA10647497	rs_886051536	2 SubmittersRCV000338853
NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)	SNV Germline	Chr15:89649836	Conflicting classifications of pathogenicity	7 conditions Acrocallosal syndrome Male infertility due to gonadal dysgenesis or sperm disorder	Criteria Provided Conflicting Classifications	CA7728634	rs_758361736	4 SubmittersRCV000415003 RCV000856784 RCV003991576
NM_198525.3(KIF7):c.355A>G (p.Ile119Val)	SNV Germline	Chr15:89649915	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome Hydrolethalus syndrome 2 Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type	Criteria Provided Conflicting Classifications	CA7728645	rs_761226001	4 SubmittersRCV000442397 RCV001861637 RCV005010328
NM_198525.3(KIF7):c.2593-3C>G	SNV Germline	Chr15:89633269	Pathogenic	Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA7728069	rs_774403667	2 SubmittersRCV000616302
NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter)	SNV Germline	Chr15:89645040	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393763646	rs_1555424505	1 SubmittersRCV000610998
NM_198525.3(KIF7):c.3281C>G (p.Ser1094Ter)	SNV Germline	Chr15:89630324	Pathogenic	Condition: not provided Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA393755872	rs_1555423165	2 SubmittersRCV000522960 RCV001381328
NM_198525.3(KIF7):c.157C>T (p.Arg53Ter)	SNV Germline	Chr15:89652774	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA274584468	rs_569323391	1 SubmittersRCV000537774
NM_198525.3(KIF7):c.1740G>A (p.Pro580=)	SNV Germline	Chr15:89646878	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728473	rs_200473560	2 SubmittersRCV000593320 RCV002062065
NM_198525.3(KIF7):c.2191+7C>T	SNV Germline	Chr15:89645006	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications	CA7728296	rs_371970440	3 SubmittersRCV000596660 RCV001854054 RCV002476314
NM_198525.3(KIF7):c.2602C>T (p.Leu868=)	SNV Germline	Chr15:89633257	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728068	rs_151090897	2 SubmittersRCV000593188 RCV001474641
NM_198525.3(KIF7):c.1922+13C>T	SNV Germline	Chr15:89645880	Conflicting classifications of pathogenicity	not specified Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728409	rs_376321790	3 SubmittersRCV000608657 RCV001121814
NM_198525.3(KIF7):c.328+2T>G	SNV Germline	Chr15:89652601	Pathogenic/Likely pathogenic	Inborn genetic diseases Acrocallosal syndrome KIF7-related disorder Condition: not provided Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type	Criteria Provided Multiple Submitters No Conflicts	CA7728659	rs_781752990	7 SubmittersRCV000623466 RCV001377834 RCV004742537 RCV001821754 RCV005010593
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)	SNV Germline	Chr15:89630403	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided KIF7-related disorder	Criteria Provided Conflicting Classifications	CA7727798	rs_147191956	4 SubmittersRCV000638556 RCV001591424 RCV003905722
NM_198525.3(KIF7):c.3518-1G>C	SNV Germline	Chr15:89629123	Likely pathogenic	Acrocallosal syndrome Condition: not provided	Criteria Provided Single Submitter	CA393754386	rs_1567057019	2 SubmittersRCV000689448 RCV000722544
NM_198525.3(KIF7):c.1164C>T (p.Gly388=)	SNV Germline	Chr15:89648534	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided KIF7-related disorder	Criteria Provided Conflicting Classifications	CA274582502	rs_975756878	4 SubmittersRCV000706565 RCV001585660 RCV003892570
NM_198525.3(KIF7):c.67C>T (p.Arg23Ter)	SNV Germline	Chr15:89652864	Pathogenic/Likely pathogenic	Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA393780934	rs_1235928535	2 SubmittersRCV000714581 RCV000714582 RCV005021117
NM_198525.3(KIF7):c.978C>T (p.Val326=)	SNV Germline	Chr15:89648720	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728595	rs_555659148	3 SubmittersRCV000729244 RCV001403025
NM_198525.3(KIF7):c.3753G>T (p.Leu1251=)	SNV Germline	Chr15:89628698	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA274563006	rs_140121479	2 SubmittersRCV000731106 RCV002060999
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=)	SNV Germline	Chr15:89628713	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7727558	rs_144929293	4 SubmittersRCV000732834 RCV001087568
NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu)	SNV Germline	Chr15:89633729	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome not specified	Criteria Provided Conflicting Classifications	CA7728103	rs_141514601	5 SubmittersRCV000732836 RCV001088881 RCV005240516
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)	SNV Germline	Chr15:89628609	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type not specified	Criteria Provided Conflicting Classifications	CA7727508	rs_143877028	6 SubmittersRCV000732838 RCV001087881 RCV001335631 RCV005240517
NM_198525.3(KIF7):c.2191+8G>A	SNV Germline	Chr15:89645005	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728295	rs_776233268	2 SubmittersRCV000733031 RCV002067139
NM_198525.3(KIF7):c.3264C>T (p.Leu1088=)	SNV Germline	Chr15:89630341	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7727782	rs_138764398	3 SubmittersRCV000734379 RCV001423785
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)	SNV Germline	Chr15:89628667	Conflicting classifications of pathogenicity	Acrocallosal syndrome KIF7-related disorder Condition: not provided Inborn genetic diseases Hydrolethalus syndrome 2 Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type	Criteria Provided Conflicting Classifications	CA7727531	rs_142598777	9 SubmittersRCV000808133 RCV004742644 RCV001553033 RCV002537282 RCV003147555 RCV005012343
NM_198525.3(KIF7):c.3061C>T (p.Arg1021Cys)	SNV Germline	Chr15:89631545	Conflicting classifications of pathogenicity	Acrocallosal syndrome Inborn genetic diseases Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA7727843	rs_144493884	4 SubmittersRCV000795850 RCV002537011 RCV005021198 RCV003151811
NM_198525.3(KIF7):c.1643C>T (p.Pro548Leu)	SNV Germline	Chr15:89646975	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided Multiple epiphyseal dysplasia, Al-Gazali type Acrocallosal syndrome Hydrolethalus syndrome 2 Intellectual disability Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7728498	rs_369168569	5 SubmittersRCV000802313 RCV003159164 RCV005012332 RCV005626223 RCV002534702
NM_198525.3(KIF7):c.2173G>A (p.Gly725Ser)	SNV Germline	Chr15:89645031	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided KIF7-related disorder Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type	Criteria Provided Conflicting Classifications	CA7728306	rs_150227461	6 SubmittersRCV000981640 RCV001573893 RCV003906108 RCV005392612
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=)	SNV Germline	Chr15:89628557	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7727488	rs_370333561	2 SubmittersRCV001116731
NM_198525.3(KIF7):c.3637G>A (p.Gly1213Ser)	SNV Germline	Chr15:89629003	Conflicting classifications of pathogenicity	Condition: not provided Inborn genetic diseases Acrocallosal syndrome Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications	CA7727610	rs_143316368	5 SubmittersRCV001732047 RCV002556472 RCV001116734 RCV005012570
NM_198525.3(KIF7):c.3519C>T (p.Asp1173=)	SNV Germline	Chr15:89629121	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7727647	rs_778389919	2 SubmittersRCV001118178
NM_198525.3(KIF7):c.3486G>A (p.Gln1162=)	SNV Germline	Chr15:89629406	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7727690	rs_185689321	2 SubmittersRCV001118179
NM_198525.3(KIF7):c.3477G>A (p.Glu1159=)	SNV Germline	Chr15:89629415	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA274563699	rs_886192389	2 SubmittersRCV001118180
NM_198525.3(KIF7):c.3225G>A (p.Ser1075=)	SNV Germline	Chr15:89630380	Conflicting classifications of pathogenicity	Acrocallosal syndrome KIF7-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA7727791	rs_375802364	4 SubmittersRCV001119732 RCV003898116 RCV005428077
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=)	SNV Germline	Chr15:89630482	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7727810	rs_146808726	2 SubmittersRCV001119733
NM_198525.3(KIF7):c.2421G>A (p.Thr807=)	SNV Germline	Chr15:89633857	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728164	rs_141497185	2 SubmittersRCV001118298
NM_198525.3(KIF7):c.2059C>A (p.Arg687=)	SNV Germline	Chr15:89645145	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728347	rs_138736028	2 SubmittersRCV001121812
NM_198525.3(KIF7):c.2049G>A (p.Gly683=)	SNV Germline	Chr15:89645155	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7728349	rs_141856439	3 SubmittersRCV001121813 RCV003883557
NM_198525.3(KIF7):c.1090C>T (p.Pro364Ser)	SNV Germline	Chr15:89648608	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided Inborn genetic diseases Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications	CA7728587	rs_764965490	5 SubmittersRCV001119933 RCV001563105 RCV002556563 RCV005012574
NM_198525.3(KIF7):c.588G>T (p.Leu196=)	SNV Germline	Chr15:89649309	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728622	rs_191721354	2 SubmittersRCV001115334
NM_198525.3(KIF7):c.3319-13G>A	SNV Germline	Chr15:89629586	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications	CA7727742	rs_371154050	4 SubmittersRCV001118181 RCV004590098 RCV005021451
NM_198525.3(KIF7):c.2592+11C>T	SNV Germline	Chr15:89633675	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728087	rs_78199895	2 SubmittersRCV001116843
NM_198525.3(KIF7):c.530-7C>T	SNV Germline	Chr15:89649374	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA274582925	rs_202043641	2 SubmittersRCV001115335
NM_198525.3(KIF7):c.2152C>T (p.Arg718Cys)	SNV Germline	Chr15:89645052	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA7728314	rs_372882880	4 SubmittersRCV001224507 RCV001587252 RCV004986972
NM_198525.3(KIF7):c.50G>A (p.Arg17Gln)	SNV Germline	Chr15:89652881	Conflicting classifications of pathogenicity	Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Condition: not provided Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2 Acrocallosal syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA274584544	rs_949983017	5 SubmittersRCV001325072 RCV001328840 RCV001576025 RCV004727144 RCV004639567
NM_198525.3(KIF7):c.3505C>T (p.Gln1169Ter)	SNV Germline	Chr15:89629387	Pathogenic	Condition: not provided Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA393754582	rs_1963620354	3 SubmittersRCV001355833 RCV005094474
NM_198525.3(KIF7):c.3235C>T (p.Gln1079Ter)	SNV Germline	Chr15:89630370	Pathogenic/Likely pathogenic	Condition: not provided Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA393755975	rs_1963646325	4 SubmittersRCV001723341 RCV005005997 RCV005094900
NM_198525.3(KIF7):c.1443+2T>C	SNV Germline	Chr15:89648253	Likely pathogenic	Condition: not provided Acrocallosal syndrome Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Multiple Submitters No Conflicts	CA274582369	rs_751900799	3 SubmittersRCV001767173 RCV002540270 RCV005006016
NM_198525.3(KIF7):c.2059C>T (p.Arg687Ter)	SNV Germline	Chr15:89645145	Pathogenic/Likely pathogenic	Condition: not provided Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA7728348	rs_138736028	2 SubmittersRCV001806901 RCV002542369
NM_198525.3(KIF7):c.1561-1G>A	SNV Germline	Chr15:89647058	Likely pathogenic	Hydrolethalus syndrome 2 Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA7728520	rs_763238645	2 SubmittersRCV001814725 RCV001885300
NM_198525.3(KIF7):c.283C>T (p.Gln95Ter)	SNV Germline	Chr15:89652648	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393779643	rs_771463286	1 SubmittersRCV001946770
NM_198525.3(KIF7):c.151C>T (p.Arg51Cys)	SNV Germline	Chr15:89652780	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728683	rs_746429585	2 SubmittersRCV001969497
NM_198525.3(KIF7):c.1546C>T (p.Gln516Ter)	SNV Germline	Chr15:89647610	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393768427	rs_1250146203	1 SubmittersRCV001941524
NM_198525.3(KIF7):c.2345G>A (p.Arg782Gln)	SNV Germline	Chr15:89642252	Conflicting classifications of pathogenicity	Acrocallosal syndrome Inborn genetic diseases Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications	CA7728226	rs_749948143	3 SubmittersRCV001912976 RCV003348598 RCV005006190
NM_198525.3(KIF7):c.2192-1G>A	SNV Germline	Chr15:89642406	Likely pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393762693	rs_1424230161	1 SubmittersRCV001996002
NM_198525.3(KIF7):c.2896-9T>C	SNV Germline	Chr15:89631719	Conflicting classifications of pathogenicity	Acrocallosal syndrome Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications	CA7727890	rs_746943281	2 SubmittersRCV002113891 RCV005017139
NM_198525.3(KIF7):c.518G>A (p.Arg173His)	SNV Germline	Chr15:89649752	Conflicting classifications of pathogenicity	Inborn genetic diseases Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728628	rs_768030553	2 SubmittersRCV003041154 RCV003062510
NM_198525.3(KIF7):c.3366G>A (p.Ser1122=)	SNV Germline	Chr15:89629526	Conflicting classifications of pathogenicity	Acrocallosal syndrome Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications	CA7727725	rs_771583869	2 SubmittersRCV003061173 RCV005019625
NM_198525.3(KIF7):c.3553C>T (p.Gln1185Ter)	SNV Germline	Chr15:89629087	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393754187	rs_767550455	1 SubmittersRCV003078262
NM_198525.3(KIF7):c.2770C>T (p.Gln924Ter)	SNV Germline	Chr15:89632945	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA274567959	rs_372338933	1 SubmittersRCV002647779
NM_198525.3(KIF7):c.2446C>T (p.Gln816Ter)	SNV Germline	Chr15:89633832	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393759974	rs_2505438655	1 SubmittersRCV002575376
NM_198525.3(KIF7):c.690C>T (p.Arg230=)	SNV Germline	Chr15:89649207	Conflicting classifications of pathogenicity	Acrocallosal syndrome Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications	CA492292923	rs_755148549	2 SubmittersRCV002638827 RCV005008673
NM_198525.3(KIF7):c.3514C>T (p.Arg1172Ter)	SNV Germline	Chr15:89629378	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393754515	rs_138196132	1 SubmittersRCV002705785
NM_198525.3(KIF7):c.657G>A (p.Thr219=)	SNV Germline	Chr15:89649240	Conflicting classifications of pathogenicity	Acrocallosal syndrome Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type	Criteria Provided Conflicting Classifications	CA492293007	rs_1273641096	2 SubmittersRCV002710284 RCV005008708
NM_198525.3(KIF7):c.3318+1G>T	SNV Germline	Chr15:89630286	Likely pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393755786	rs_2505419625	1 SubmittersRCV002797358
NM_198525.3(KIF7):c.2497C>T (p.Gln833Ter)	SNV Germline	Chr15:89633781	Pathogenic	Acrocallosal syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA393759803	rs_746915003	2 SubmittersRCV002834702 RCV003232688
NM_198525.3(KIF7):c.1789-2A>G	SNV Germline	Chr15:89646028	Likely pathogenic	Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2 Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA274581460	rs_989653101	2 SubmittersRCV002909384 RCV005019458
NM_198525.3(KIF7):c.2287C>T (p.Gln763Ter)	SNV Germline	Chr15:89642310	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393761783	rs_1324022945	1 SubmittersRCV003042258
NM_198525.3(KIF7):c.2227C>T (p.Gln743Ter)	SNV Germline	Chr15:89642370	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393762429	rs_145324453	1 SubmittersRCV003024631
NM_198525.3(KIF7):c.2895+1G>C	SNV Unknown	Chr15:89632819	Likely pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393758063	rs_1160753200	1 SubmittersRCV003147948
NM_198525.3(KIF7):c.2272G>T (p.Glu758Ter)	SNV Germline	Chr15:89642325	Likely pathogenic	Acrocallosal syndrome	No Assertion Criteria Provided	CA393761991	rs_527766106	1 SubmittersRCV003326720
NM_198525.3(KIF7):c.3394C>T (p.Gln1132Ter)	SNV Germline	Chr15:89629498	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393755612	rs_2505415311	1 SubmittersRCV003514728
NM_198525.3(KIF7):c.1462C>T (p.Gln488Ter)	SNV Germline	Chr15:89647694	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393768855	rs_2505490478	1 SubmittersRCV003630321
NM_198525.3(KIF7):c.1329G>A (p.Trp443Ter)	SNV Germline	Chr15:89648369	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393771174	rs_1444012324	1 SubmittersRCV003630508
NM_198525.3(KIF7):c.852C>T (p.Asn284=)	SNV Germline	Chr15:89649045	Conflicting classifications of pathogenicity	Acrocallosal syndrome Acrocallosal syndrome Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type	Criteria Provided Conflicting Classifications	CA492292708	rs_55765051	2 SubmittersRCV003629047 RCV005013135
NM_198525.3(KIF7):c.3433C>T (p.Gln1145Ter)	SNV Germline	Chr15:89629459	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter	CA393755486	rs_1204832680	1 SubmittersRCV003629901
NM_198525.3(KIF7):c.447C>A (p.Tyr149Ter)	SNV Germline	Chr15:89649823	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004782095
NM_198525.3(KIF7):c.3195C>A (p.Cys1065Ter)	SNV Germline	Chr15:89630410	Likely pathogenic	Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005017373
NM_198525.3(KIF7):c.2869G>T (p.Glu957Ter)	SNV Germline	Chr15:89632846	Likely pathogenic	Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005012146
NM_198525.3(KIF7):c.2758G>T (p.Glu920Ter)	SNV Germline	Chr15:89632957	Likely pathogenic	Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005017383
NM_198525.3(KIF7):c.2718+1G>A	SNV Germline	Chr15:89633140	Likely pathogenic	Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005012147
NM_198525.3(KIF7):c.923+2T>G	SNV Germline	Chr15:89648972	Likely pathogenic	Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2 Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV005012183 RCV005112601
NM_198525.3(KIF7):c.1335C>A (p.Cys445Ter)	SNV Germline	Chr15:89648363	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005075406
NM_198525.3(KIF7):c.2710C>T (p.Gln904Ter)	SNV Germline	Chr15:89633149	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005163510
NM_198525.3(KIF7):c.2592+2T>G	SNV Germline	Chr15:89633684	Likely pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV005203135
NM_198525.3(KIF7):c.2515C>T (p.Gln839Ter)	SNV Germline	Chr15:89633763	Likely pathogenic	Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2	Criteria Provided Single Submitter			1 SubmittersRCV005398212

NM_198525.3(KIF7):c.460C>T (p.Arg154Ter)

SNV
Germline

Chr15:89649810

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA020407

rs_387907044

2 SubmittersRCV000023882

NM_198525.3(KIF7):c.3001C>T (p.Gln1001Ter)

SNV
Germline

Chr15:89631605

Pathogenic

Acrocallosal syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA020318

rs_387907045

4 SubmittersRCV000023883 RCV003329235

NM_198525.3(KIF7):c.3021C>T (p.Ile1007=)

SNV
Germline

Chr15:89631585

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
KIF7-related disorder

Criteria Provided
Conflicting Classifications

CA020335

rs_142488318

4 SubmittersRCV000082816 RCV001437227 RCV003905074

NM_198525.3(KIF7):c.516G>A (p.Glu172=)

SNV
Germline

Chr15:89649754

Conflicting classifications of pathogenicity

not specified
Acrocallosal syndrome
KIF7-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020421

rs_199959946

6 SubmittersRCV000193296 RCV000887476 RCV003935073 RCV003390782

NM_198525.3(KIF7):c.612C>T (p.His204=)

SNV
Germline

Chr15:89649285

Conflicting classifications of pathogenicity

not specified
Acrocallosal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020433

rs_398124613

5 SubmittersRCV000247230 RCV001086808 RCV000723616

NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)

SNV
Germline

Chr15:89648478

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
Inborn genetic diseases
not specified

Criteria Provided
Conflicting Classifications

CA020189

rs_587780375

6 SubmittersRCV000117411 RCV001083297 RCV002528215 RCV001199843

NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp)

SNV
Germline

Chr15:89642361

Conflicting classifications of pathogenicity

Condition: not provided
Multiple epiphyseal dysplasia, Al-Gazali type
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA020259

rs_141867330

6 SubmittersRCV000724188 RCV001328837 RCV002516619

NM_198525.3(KIF7):c.2586C>T (p.Arg862=)

SNV
Germline

Chr15:89633692

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
KIF7-related disorder

Criteria Provided
Conflicting Classifications

CA020278

rs_141097070

3 SubmittersRCV000174427 RCV001425627 RCV004742308

NM_198525.3(KIF7):c.2672G>C (p.Arg891Thr)

SNV
Germline

Chr15:89633187

Conflicting classifications of pathogenicity

Condition: not provided
Multiple epiphyseal dysplasia, Al-Gazali type
Acrocallosal syndrome
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

CA020289

rs_143250090

7 SubmittersRCV000724190 RCV001328838 RCV002516636 RCV005008097

NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg)

SNV
Germline

Chr15:89631625

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
Intellectual disability

Criteria Provided
Conflicting Classifications

CA020312

rs_138410949

8 SubmittersRCV000201541 RCV000513744 RCV001252541

NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln)

SNV
Germline

Chr15:89628453

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
Intellectual disability
KIF7-related disorder

Criteria Provided
Conflicting Classifications

CA020398

rs_145726393

6 SubmittersRCV000175494 RCV001083648 RCV001252540 RCV003895188

NM_198525.3(KIF7):c.3665-5G>A

SNV
Germline

Chr15:89628791

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA020374

rs_79532879

5 SubmittersRCV000245295 RCV000724100 RCV001088380

NM_198525.3(KIF7):c.3914G>A (p.Arg1305Gln)

SNV
Germline

Chr15:89628537

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA020385

rs_138993311

4 SubmittersRCV000175496 RCV000302149 RCV002516679

NM_198525.3(KIF7):c.3795G>A (p.Thr1265=)

SNV
Germline

Chr15:89628656

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
KIF7-related disorder

Criteria Provided
Conflicting Classifications

CA020380

rs_148749994

3 SubmittersRCV000175497 RCV002056935 RCV003947485

NM_198525.3(KIF7):c.3944C>T (p.Pro1315Leu)

SNV
Germline

Chr15:89628507

Conflicting classifications of pathogenicity

Acrocallosal syndrome
not specified
KIF7-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020390

rs_150248985

9 SubmittersRCV000529413 RCV000175498 RCV004725027 RCV001200207

NM_198525.3(KIF7):c.61C>T (p.Arg21Ter)

SNV
Germline

Chr15:89652870

Pathogenic/Likely pathogenic

Condition: not provided
Acrocallosal syndrome
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type
Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020438

rs_794727316

5 SubmittersRCV000355275 RCV005016520 RCV001852164

NM_198525.3(KIF7):c.336C>T (p.Leu112=)

SNV
Germline

Chr15:89649934

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA020362

rs_794727530

2 SubmittersRCV000177432 RCV001078892

NM_198525.3(KIF7):c.510A>G (p.Glu170=)

SNV
Germline

Chr15:89649760

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA020417

rs_761029778

3 SubmittersRCV000177433 RCV002054090

NM_198525.3(KIF7):c.1360C>T (p.Leu454=)

SNV
Germline

Chr15:89648338

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA020203

rs_794727743

2 SubmittersRCV000179056 RCV002516786

NM_198525.3(KIF7):c.2944G>T (p.Glu982Ter)

SNV
Germline

Chr15:89631662

Pathogenic

Acrocallosal syndrome
KIF7-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA276009

rs_797045093

3 SubmittersRCV000190601 RCV004742322

NM_198525.3(KIF7):c.3331C>T (p.Arg1111Ter)

SNV
Germline

Chr15:89629561

Pathogenic

Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277688

rs_778139192

6 SubmittersRCV000201533

NM_198525.3(KIF7):c.2917C>T (p.Arg973Ter)

SNV
Germline

Chr15:89631689

Pathogenic

Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA277751

rs_202229910

2 SubmittersRCV000201660

NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg)

SNV
Germline

Chr15:89633777

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Acrocallosal syndrome
Nephronophthisis
Intellectual disability

Criteria Provided
Conflicting Classifications

CA7728123

rs_138354681

10 SubmittersRCV000239249 RCV000514812 RCV001086870 RCV001328108 RCV005625482

NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)

SNV
Germline

Chr15:89628491

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7727468

rs_141028210

6 SubmittersRCV000250252 RCV000724872 RCV000337447

NM_198525.3(KIF7):c.2192-13C>T

SNV
Germline

Chr15:89642418

Conflicting classifications of pathogenicity

not specified
Acrocallosal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7728276

rs_201251064

8 SubmittersRCV000251118 RCV000368532 RCV001699093

NM_198525.3(KIF7):c.2079C>A (p.Val693=)

SNV
Germline

Chr15:89645125

Conflicting classifications of pathogenicity

not specified
Acrocallosal syndrome
Condition: not provided
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728334

rs_113112856

5 SubmittersRCV000254086 RCV001422422 RCV000878309 RCV005008221

NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)

SNV
Germline

Chr15:89648521

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type
Acrocallosal syndrome
Inborn genetic diseases
Hydrolethalus syndrome
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728582

rs_553968087

8 SubmittersRCV000298981 RCV000725358 RCV000764005 RCV002521914 RCV003483603

NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln)

SNV
Germline

Chr15:89642360

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728260

rs_151317163

6 SubmittersRCV000725501 RCV001084827

NM_198525.3(KIF7):c.3514C>A (p.Arg1172=)

SNV
Germline

Chr15:89629378

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
KIF7-related disorder
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7727686

rs_138196132

11 SubmittersRCV000305823 RCV000725922 RCV003930127 RCV004984779

NM_198525.3(KIF7):c.2861C>T (p.Thr954Met)

SNV
Germline

Chr15:89632854

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7727926

rs_141463861

5 SubmittersRCV000364818 RCV001121707 RCV004629176

NM_198525.3(KIF7):c.1444-9G>A

SNV
Germline

Chr15:89647721

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728562

rs_761796364

2 SubmittersRCV000396565 RCV003514345

NM_198525.3(KIF7):c.72A>C (p.Pro24=)

SNV
Germline

Chr15:89652859

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728691

rs_773325406

4 SubmittersRCV000389628 RCV001413056 RCV005016679

NM_198525.3(KIF7):c.3759C>G (p.Pro1253=)

SNV
Germline

Chr15:89628692

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7727547

rs_147767277

2 SubmittersRCV000359297

NM_198525.3(KIF7):c.1290C>T (p.Pro430=)

SNV
Germline

Chr15:89648408

Conflicting classifications of pathogenicity

Acrocallosal syndrome
not specified

Criteria Provided
Conflicting Classifications

CA10636657

rs_886051534

3 SubmittersRCV000344719 RCV000602014

NM_198525.3(KIF7):c.1221C>T (p.Ala407=)

SNV
Germline

Chr15:89648477

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA10636659

rs_886051535

2 SubmittersRCV000283817

NM_198525.3(KIF7):c.952G>A (p.Ala318Thr)

SNV
Germline

Chr15:89648746

Conflicting classifications of pathogenicity

Acrocallosal syndrome
KIF7-related disorder
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

CA7728596

rs_756368261

4 SubmittersRCV000368715 RCV003920336 RCV005016695

NM_198525.3(KIF7):c.418C>T (p.Leu140=)

SNV
Germline

Chr15:89649852

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA10636661

rs_756117745

2 SubmittersRCV000380290

NM_198525.3(KIF7):c.924-14C>T

SNV
Germline

Chr15:89648788

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728598

rs_573998309

2 SubmittersRCV000274114

NM_198525.3(KIF7):c.3112-10G>A

SNV
Germline

Chr15:89630503

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA10646690

rs_370548253

2 SubmittersRCV000367113

NM_198525.3(KIF7):c.2613G>A (p.Glu871=)

SNV
Germline

Chr15:89633246

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7728063

rs_370595622

4 SubmittersRCV000282043 RCV001706496

NM_198525.3(KIF7):c.2364G>C (p.Arg788Ser)

SNV
Germline

Chr15:89642233

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7728219

rs_117123311

4 SubmittersRCV000285504 RCV005010277 RCV004772895

NM_198525.3(KIF7):c.1296G>A (p.Leu432=)

SNV
Germline

Chr15:89648402

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
KIF7-related disorder

Criteria Provided
Conflicting Classifications

CA10646692

rs_886051533

5 SubmittersRCV000287338 RCV001546168 RCV003920335

NM_198525.3(KIF7):c.960G>A (p.Thr320=)

SNV
Germline

Chr15:89648738

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA10646693

rs_886051538

2 SubmittersRCV000314210

NM_198525.3(KIF7):c.3957G>T (p.Gly1319=)

SNV
Germline

Chr15:89628494

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA10647474

rs_886051529

2 SubmittersRCV000404350

NM_198525.3(KIF7):c.2337G>A (p.Glu779=)

SNV
Germline

Chr15:89642260

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7728232

rs_202089770

4 SubmittersRCV000402656 RCV003391144 RCV004984810

NM_198525.3(KIF7):c.2322C>A (p.Leu774=)

SNV
Germline

Chr15:89642275

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728236

rs_145339415

2 SubmittersRCV000308193

NM_198525.3(KIF7):c.2079C>T (p.Val693=)

SNV
Germline

Chr15:89645125

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728336

rs_113112856

2 SubmittersRCV000276498

NM_198525.3(KIF7):c.1390A>G (p.Ile464Val)

SNV
Germline

Chr15:89648308

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728580

rs_570856269

2 SubmittersRCV000322469

NM_198525.3(KIF7):c.1218C>G (p.Gly406=)

SNV
Germline

Chr15:89648480

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA10647497

rs_886051536

2 SubmittersRCV000338853

NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)

SNV
Germline

Chr15:89649836

Conflicting classifications of pathogenicity

7 conditions
Acrocallosal syndrome
Male infertility due to gonadal dysgenesis or sperm disorder

Criteria Provided
Conflicting Classifications

CA7728634

rs_758361736

4 SubmittersRCV000415003 RCV000856784 RCV003991576

NM_198525.3(KIF7):c.355A>G (p.Ile119Val)

SNV
Germline

Chr15:89649915

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
Hydrolethalus syndrome 2
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type

Criteria Provided
Conflicting Classifications

CA7728645

rs_761226001

4 SubmittersRCV000442397 RCV001861637 RCV005010328

NM_198525.3(KIF7):c.2593-3C>G

SNV
Germline

Chr15:89633269

Pathogenic

Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7728069

rs_774403667

2 SubmittersRCV000616302

NM_198525.3(KIF7):c.2164G>T (p.Glu722Ter)

SNV
Germline

Chr15:89645040

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393763646

rs_1555424505

1 SubmittersRCV000610998

NM_198525.3(KIF7):c.3281C>G (p.Ser1094Ter)

SNV
Germline

Chr15:89630324

Pathogenic

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393755872

rs_1555423165

2 SubmittersRCV000522960 RCV001381328

NM_198525.3(KIF7):c.157C>T (p.Arg53Ter)

SNV
Germline

Chr15:89652774

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA274584468

rs_569323391

1 SubmittersRCV000537774

NM_198525.3(KIF7):c.1740G>A (p.Pro580=)

SNV
Germline

Chr15:89646878

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728473

rs_200473560

2 SubmittersRCV000593320 RCV002062065

NM_198525.3(KIF7):c.2191+7C>T

SNV
Germline

Chr15:89645006

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

CA7728296

rs_371970440

3 SubmittersRCV000596660 RCV001854054 RCV002476314

NM_198525.3(KIF7):c.2602C>T (p.Leu868=)

SNV
Germline

Chr15:89633257

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728068

rs_151090897

2 SubmittersRCV000593188 RCV001474641

NM_198525.3(KIF7):c.1922+13C>T

SNV
Germline

Chr15:89645880

Conflicting classifications of pathogenicity

not specified
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728409

rs_376321790

3 SubmittersRCV000608657 RCV001121814

NM_198525.3(KIF7):c.328+2T>G

SNV
Germline

Chr15:89652601

Pathogenic/Likely pathogenic

Inborn genetic diseases
Acrocallosal syndrome
KIF7-related disorder
Condition: not provided
Acrocallosal syndrome
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type

Criteria Provided
Multiple Submitters
No Conflicts

CA7728659

rs_781752990

7 SubmittersRCV000623466 RCV001377834 RCV004742537 RCV001821754 RCV005010593

NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp)

SNV
Germline

Chr15:89630403

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
KIF7-related disorder

Criteria Provided
Conflicting Classifications

CA7727798

rs_147191956

4 SubmittersRCV000638556 RCV001591424 RCV003905722

NM_198525.3(KIF7):c.3518-1G>C

SNV
Germline

Chr15:89629123

Likely pathogenic

Acrocallosal syndrome
Condition: not provided

Criteria Provided
Single Submitter

CA393754386

rs_1567057019

2 SubmittersRCV000689448 RCV000722544

NM_198525.3(KIF7):c.1164C>T (p.Gly388=)

SNV
Germline

Chr15:89648534

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
KIF7-related disorder

Criteria Provided
Conflicting Classifications

CA274582502

rs_975756878

4 SubmittersRCV000706565 RCV001585660 RCV003892570

NM_198525.3(KIF7):c.67C>T (p.Arg23Ter)

SNV
Germline

Chr15:89652864

Pathogenic/Likely pathogenic

Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type
Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393780934

rs_1235928535

2 SubmittersRCV000714581 RCV000714582 RCV005021117

NM_198525.3(KIF7):c.978C>T (p.Val326=)

SNV
Germline

Chr15:89648720

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728595

rs_555659148

3 SubmittersRCV000729244 RCV001403025

NM_198525.3(KIF7):c.3753G>T (p.Leu1251=)

SNV
Germline

Chr15:89628698

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA274563006

rs_140121479

2 SubmittersRCV000731106 RCV002060999

NM_198525.3(KIF7):c.3738C>G (p.Pro1246=)

SNV
Germline

Chr15:89628713

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7727558

rs_144929293

4 SubmittersRCV000732834 RCV001087568

NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu)

SNV
Germline

Chr15:89633729

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
not specified

Criteria Provided
Conflicting Classifications

CA7728103

rs_141514601

5 SubmittersRCV000732836 RCV001088881 RCV005240516

NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile)

SNV
Germline

Chr15:89628609

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
not specified

Criteria Provided
Conflicting Classifications

CA7727508

rs_143877028

6 SubmittersRCV000732838 RCV001087881 RCV001335631 RCV005240517

NM_198525.3(KIF7):c.2191+8G>A

SNV
Germline

Chr15:89645005

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728295

rs_776233268

2 SubmittersRCV000733031 RCV002067139

NM_198525.3(KIF7):c.3264C>T (p.Leu1088=)

SNV
Germline

Chr15:89630341

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7727782

rs_138764398

3 SubmittersRCV000734379 RCV001423785

NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)

SNV
Germline

Chr15:89628667

Conflicting classifications of pathogenicity

Acrocallosal syndrome
KIF7-related disorder
Condition: not provided
Inborn genetic diseases
Hydrolethalus syndrome 2
Acrocallosal syndrome
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type

Criteria Provided
Conflicting Classifications

CA7727531

rs_142598777

9 SubmittersRCV000808133 RCV004742644 RCV001553033 RCV002537282 RCV003147555 RCV005012343

NM_198525.3(KIF7):c.3061C>T (p.Arg1021Cys)

SNV
Germline

Chr15:89631545

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Inborn genetic diseases
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7727843

rs_144493884

4 SubmittersRCV000795850 RCV002537011 RCV005021198 RCV003151811

NM_198525.3(KIF7):c.1643C>T (p.Pro548Leu)

SNV
Germline

Chr15:89646975

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
Multiple epiphyseal dysplasia, Al-Gazali type
Acrocallosal syndrome
Hydrolethalus syndrome 2
Intellectual disability
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7728498

rs_369168569

5 SubmittersRCV000802313 RCV003159164 RCV005012332 RCV005626223 RCV002534702

NM_198525.3(KIF7):c.2173G>A (p.Gly725Ser)

SNV
Germline

Chr15:89645031

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
KIF7-related disorder
Acrocallosal syndrome
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type

Criteria Provided
Conflicting Classifications

CA7728306

rs_150227461

6 SubmittersRCV000981640 RCV001573893 RCV003906108 RCV005392612

NM_198525.3(KIF7):c.3894G>A (p.Ala1298=)

SNV
Germline

Chr15:89628557

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7727488

rs_370333561

2 SubmittersRCV001116731

NM_198525.3(KIF7):c.3637G>A (p.Gly1213Ser)

SNV
Germline

Chr15:89629003

Conflicting classifications of pathogenicity

Condition: not provided
Inborn genetic diseases
Acrocallosal syndrome
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

CA7727610

rs_143316368

5 SubmittersRCV001732047 RCV002556472 RCV001116734 RCV005012570

NM_198525.3(KIF7):c.3519C>T (p.Asp1173=)

SNV
Germline

Chr15:89629121

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7727647

rs_778389919

2 SubmittersRCV001118178

NM_198525.3(KIF7):c.3486G>A (p.Gln1162=)

SNV
Germline

Chr15:89629406

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7727690

rs_185689321

2 SubmittersRCV001118179

NM_198525.3(KIF7):c.3477G>A (p.Glu1159=)

SNV
Germline

Chr15:89629415

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA274563699

rs_886192389

2 SubmittersRCV001118180

NM_198525.3(KIF7):c.3225G>A (p.Ser1075=)

SNV
Germline

Chr15:89630380

Conflicting classifications of pathogenicity

Acrocallosal syndrome
KIF7-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7727791

rs_375802364

4 SubmittersRCV001119732 RCV003898116 RCV005428077

NM_198525.3(KIF7):c.3123G>A (p.Thr1041=)

SNV
Germline

Chr15:89630482

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7727810

rs_146808726

2 SubmittersRCV001119733

NM_198525.3(KIF7):c.2421G>A (p.Thr807=)

SNV
Germline

Chr15:89633857

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728164

rs_141497185

2 SubmittersRCV001118298

NM_198525.3(KIF7):c.2059C>A (p.Arg687=)

SNV
Germline

Chr15:89645145

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728347

rs_138736028

2 SubmittersRCV001121812

NM_198525.3(KIF7):c.2049G>A (p.Gly683=)

SNV
Germline

Chr15:89645155

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7728349

rs_141856439

3 SubmittersRCV001121813 RCV003883557

NM_198525.3(KIF7):c.1090C>T (p.Pro364Ser)

SNV
Germline

Chr15:89648608

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
Inborn genetic diseases
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

CA7728587

rs_764965490

5 SubmittersRCV001119933 RCV001563105 RCV002556563 RCV005012574

NM_198525.3(KIF7):c.588G>T (p.Leu196=)

SNV
Germline

Chr15:89649309

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728622

rs_191721354

2 SubmittersRCV001115334

NM_198525.3(KIF7):c.3319-13G>A

SNV
Germline

Chr15:89629586

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

CA7727742

rs_371154050

4 SubmittersRCV001118181 RCV004590098 RCV005021451

NM_198525.3(KIF7):c.2592+11C>T

SNV
Germline

Chr15:89633675

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728087

rs_78199895

2 SubmittersRCV001116843

NM_198525.3(KIF7):c.530-7C>T

SNV
Germline

Chr15:89649374

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA274582925

rs_202043641

2 SubmittersRCV001115335

NM_198525.3(KIF7):c.2152C>T (p.Arg718Cys)

SNV
Germline

Chr15:89645052

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA7728314

rs_372882880

4 SubmittersRCV001224507 RCV001587252 RCV004986972

NM_198525.3(KIF7):c.50G>A (p.Arg17Gln)

SNV
Germline

Chr15:89652881

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Condition: not provided
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2
Acrocallosal syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA274584544

rs_949983017

5 SubmittersRCV001325072 RCV001328840 RCV001576025 RCV004727144 RCV004639567

NM_198525.3(KIF7):c.3505C>T (p.Gln1169Ter)

SNV
Germline

Chr15:89629387

Pathogenic

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393754582

rs_1963620354

3 SubmittersRCV001355833 RCV005094474

NM_198525.3(KIF7):c.3235C>T (p.Gln1079Ter)

SNV
Germline

Chr15:89630370

Pathogenic/Likely pathogenic

Condition: not provided
Acrocallosal syndrome
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type
Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA393755975

rs_1963646325

4 SubmittersRCV001723341 RCV005005997 RCV005094900

NM_198525.3(KIF7):c.1443+2T>C

SNV
Germline

Chr15:89648253

Likely pathogenic

Condition: not provided
Acrocallosal syndrome
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Multiple Submitters
No Conflicts

CA274582369

rs_751900799

3 SubmittersRCV001767173 RCV002540270 RCV005006016

NM_198525.3(KIF7):c.2059C>T (p.Arg687Ter)

SNV
Germline

Chr15:89645145

Pathogenic/Likely pathogenic

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7728348

rs_138736028

2 SubmittersRCV001806901 RCV002542369

NM_198525.3(KIF7):c.1561-1G>A

SNV
Germline

Chr15:89647058

Likely pathogenic

Hydrolethalus syndrome 2
Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA7728520

rs_763238645

2 SubmittersRCV001814725 RCV001885300

NM_198525.3(KIF7):c.283C>T (p.Gln95Ter)

SNV
Germline

Chr15:89652648

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393779643

rs_771463286

1 SubmittersRCV001946770

NM_198525.3(KIF7):c.151C>T (p.Arg51Cys)

SNV
Germline

Chr15:89652780

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728683

rs_746429585

2 SubmittersRCV001969497

NM_198525.3(KIF7):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr15:89647610

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393768427

rs_1250146203

1 SubmittersRCV001941524

NM_198525.3(KIF7):c.2345G>A (p.Arg782Gln)

SNV
Germline

Chr15:89642252

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Inborn genetic diseases
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

CA7728226

rs_749948143

3 SubmittersRCV001912976 RCV003348598 RCV005006190

NM_198525.3(KIF7):c.2192-1G>A

SNV
Germline

Chr15:89642406

Likely pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393762693

rs_1424230161

1 SubmittersRCV001996002

NM_198525.3(KIF7):c.2896-9T>C

SNV
Germline

Chr15:89631719

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

CA7727890

rs_746943281

2 SubmittersRCV002113891 RCV005017139

NM_198525.3(KIF7):c.518G>A (p.Arg173His)

SNV
Germline

Chr15:89649752

Conflicting classifications of pathogenicity

Inborn genetic diseases
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728628

rs_768030553

2 SubmittersRCV003041154 RCV003062510

NM_198525.3(KIF7):c.3366G>A (p.Ser1122=)

SNV
Germline

Chr15:89629526

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

CA7727725

rs_771583869

2 SubmittersRCV003061173 RCV005019625

NM_198525.3(KIF7):c.3553C>T (p.Gln1185Ter)

SNV
Germline

Chr15:89629087

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393754187

rs_767550455

1 SubmittersRCV003078262

NM_198525.3(KIF7):c.2770C>T (p.Gln924Ter)

SNV
Germline

Chr15:89632945

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA274567959

rs_372338933

1 SubmittersRCV002647779

NM_198525.3(KIF7):c.2446C>T (p.Gln816Ter)

SNV
Germline

Chr15:89633832

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393759974

rs_2505438655

1 SubmittersRCV002575376

NM_198525.3(KIF7):c.690C>T (p.Arg230=)

SNV
Germline

Chr15:89649207

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

CA492292923

rs_755148549

2 SubmittersRCV002638827 RCV005008673

NM_198525.3(KIF7):c.3514C>T (p.Arg1172Ter)

SNV
Germline

Chr15:89629378

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393754515

rs_138196132

1 SubmittersRCV002705785

NM_198525.3(KIF7):c.657G>A (p.Thr219=)

SNV
Germline

Chr15:89649240

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Acrocallosal syndrome
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type

Criteria Provided
Conflicting Classifications

CA492293007

rs_1273641096

2 SubmittersRCV002710284 RCV005008708

NM_198525.3(KIF7):c.3318+1G>T

SNV
Germline

Chr15:89630286

Likely pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393755786

rs_2505419625

1 SubmittersRCV002797358

NM_198525.3(KIF7):c.2497C>T (p.Gln833Ter)

SNV
Germline

Chr15:89633781

Pathogenic

Acrocallosal syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA393759803

rs_746915003

2 SubmittersRCV002834702 RCV003232688

NM_198525.3(KIF7):c.1789-2A>G

SNV
Germline

Chr15:89646028

Likely pathogenic

Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2
Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA274581460

rs_989653101

2 SubmittersRCV002909384 RCV005019458

NM_198525.3(KIF7):c.2287C>T (p.Gln763Ter)

SNV
Germline

Chr15:89642310

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393761783

rs_1324022945

1 SubmittersRCV003042258

NM_198525.3(KIF7):c.2227C>T (p.Gln743Ter)

SNV
Germline

Chr15:89642370

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393762429

rs_145324453

1 SubmittersRCV003024631

NM_198525.3(KIF7):c.2895+1G>C

SNV
Unknown

Chr15:89632819

Likely pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393758063

rs_1160753200

1 SubmittersRCV003147948

NM_198525.3(KIF7):c.2272G>T (p.Glu758Ter)

SNV
Germline

Chr15:89642325

Likely pathogenic

Acrocallosal syndrome

No Assertion Criteria Provided

CA393761991

rs_527766106

1 SubmittersRCV003326720

NM_198525.3(KIF7):c.3394C>T (p.Gln1132Ter)

SNV
Germline

Chr15:89629498

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393755612

rs_2505415311

1 SubmittersRCV003514728

NM_198525.3(KIF7):c.1462C>T (p.Gln488Ter)

SNV
Germline

Chr15:89647694

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393768855

rs_2505490478

1 SubmittersRCV003630321

NM_198525.3(KIF7):c.1329G>A (p.Trp443Ter)

SNV
Germline

Chr15:89648369

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393771174

rs_1444012324

1 SubmittersRCV003630508

NM_198525.3(KIF7):c.852C>T (p.Asn284=)

SNV
Germline

Chr15:89649045

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Acrocallosal syndrome
Hydrolethalus syndrome 2
Multiple epiphyseal dysplasia, Al-Gazali type

Criteria Provided
Conflicting Classifications

CA492292708

rs_55765051

2 SubmittersRCV003629047 RCV005013135

NM_198525.3(KIF7):c.3433C>T (p.Gln1145Ter)

SNV
Germline

Chr15:89629459

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

CA393755486

rs_1204832680

1 SubmittersRCV003629901

NM_198525.3(KIF7):c.447C>A (p.Tyr149Ter)

SNV
Germline

Chr15:89649823

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004782095

NM_198525.3(KIF7):c.3195C>A (p.Cys1065Ter)

SNV
Germline

Chr15:89630410

Likely pathogenic

Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005017373

NM_198525.3(KIF7):c.2869G>T (p.Glu957Ter)

SNV
Germline

Chr15:89632846

Likely pathogenic

Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005012146

NM_198525.3(KIF7):c.2758G>T (p.Glu920Ter)

SNV
Germline

Chr15:89632957

Likely pathogenic

Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005017383

NM_198525.3(KIF7):c.2718+1G>A

SNV
Germline

Chr15:89633140

Likely pathogenic

Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005012147

NM_198525.3(KIF7):c.923+2T>G

SNV
Germline

Chr15:89648972

Likely pathogenic

Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2
Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005012183 RCV005112601

NM_198525.3(KIF7):c.1335C>A (p.Cys445Ter)

SNV
Germline

Chr15:89648363

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005075406

NM_198525.3(KIF7):c.2710C>T (p.Gln904Ter)

SNV
Germline

Chr15:89633149

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005163510

NM_198525.3(KIF7):c.2592+2T>G

SNV
Germline

Chr15:89633684

Likely pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV005203135

NM_198525.3(KIF7):c.2515C>T (p.Gln839Ter)

SNV
Germline

Chr15:89633763

Likely pathogenic

Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type
Hydrolethalus syndrome 2

Criteria Provided
Single Submitter

1 SubmittersRCV005398212