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	No Assertion Criteria Provided	CA020407	rs_387907044	1 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 Condition: not provided KIF7-related disorder	Criteria Provided Conflicting Classifications	CA020421	rs_199959946	6 SubmittersRCV000193296 RCV000887476 RCV003390782 RCV003935073
NM_198525.3(KIF7):c.612C>T (p.His204=)	SNV Germline	Chr15:89649285	Conflicting classifications of pathogenicity	not specified Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA020433	rs_398124613	5 SubmittersRCV000247230 RCV000723616 RCV001086808
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp)	SNV Germline	Chr15:89648478	Conflicting classifications of pathogenicity	Condition: not provided not specified Acrocallosal syndrome Inborn genetic diseases	Criteria Provided Conflicting Classifications	CA020189	rs_587780375	6 SubmittersRCV000117411 RCV001199843 RCV001083297 RCV002528215
NM_198525.3(KIF7):c.2586C>T (p.Arg862=)	SNV Germline	Chr15:89633692	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA020278	rs_141097070	2 SubmittersRCV000174427 RCV001425627
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	not specified Acrocallosal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA020390	rs_150248985	8 SubmittersRCV000175498 RCV000529413 RCV001200207
NM_198525.3(KIF7):c.61C>T (p.Arg21Ter)	SNV Germline	Chr15:89652870	Pathogenic/Likely pathogenic	Condition: not provided Acrocallosal syndrome	Criteria Provided Multiple Submitters No Conflicts	CA020438	rs_794727316	4 SubmittersRCV000355275 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	Criteria Provided Multiple Submitters No Conflicts	CA276009	rs_797045093	2 SubmittersRCV000190601
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	4 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	Criteria Provided Conflicting Classifications	CA7728123	rs_138354681	9 SubmittersRCV000239249 RCV000514812 RCV001086870 RCV001328108
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=)	SNV Germline	Chr15:89628491	Conflicting classifications of pathogenicity	not specified Acrocallosal syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7727468	rs_141028210	6 SubmittersRCV000250252 RCV000337447 RCV000724872
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 Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7728334	rs_113112856	3 SubmittersRCV000254086 RCV000878309 RCV001422422
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys)	SNV Germline	Chr15:89648521	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type Hydrolethalus syndrome 2 Inborn genetic diseases Acrocallosal syndrome Hydrolethalus 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	Criteria Provided Conflicting Classifications	CA7727686	rs_138196132	10 SubmittersRCV000305823 RCV000725922 RCV003930127
NM_198525.3(KIF7):c.2861C>T (p.Thr954Met)	SNV Germline	Chr15:89632854	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications	CA7727926	rs_141463861	4 SubmittersRCV000364818 RCV001121707
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	Criteria Provided Conflicting Classifications	CA7728691	rs_773325406	3 SubmittersRCV000389628 RCV001413056
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	Criteria Provided Conflicting Classifications	CA7728596	rs_756368261	3 SubmittersRCV000368715 RCV003920336
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.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	4 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	Criteria Provided Conflicting Classifications	CA7728232	rs_202089770	3 SubmittersRCV000402656 RCV003391144
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.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 Hydrolethalus syndrome 2 Multiple epiphyseal dysplasia, Al-Gazali type	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 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA7728659	rs_781752990	4 SubmittersRCV000623466 RCV001377834 RCV001821754
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		rs_1567057019	2 SubmittersRCV000689448 RCV000722544
NM_198525.3(KIF7):c.1164C>T (p.Gly388=)	SNV Germline	Chr15:89648534	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome KIF7-related disorder	Criteria Provided Conflicting Classifications		rs_975756878	4 SubmittersRCV001585660 RCV000706565 RCV003892570
NM_198525.3(KIF7):c.67C>T (p.Arg23Ter)	SNV Germline	Chr15:89652864	Pathogenic	Acrocallosal syndrome Multiple epiphyseal dysplasia, Al-Gazali type	Criteria Provided Single Submitter		rs_1235928535	1 SubmittersRCV000714581 RCV000714582
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		rs_555659148	2 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		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		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	Criteria Provided Conflicting Classifications		rs_141514601	4 SubmittersRCV000732836 RCV001088881
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	Criteria Provided Conflicting Classifications		rs_143877028	5 SubmittersRCV000732838 RCV001087881 RCV001335631
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		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		rs_138764398	3 SubmittersRCV000734379 RCV001423785
NM_198525.3(KIF7):c.3784C>T (p.Arg1262Trp)	SNV Germline	Chr15:89628667	Conflicting classifications of pathogenicity	Acrocallosal syndrome Condition: not provided Inborn genetic diseases Hydrolethalus syndrome 2	Criteria Provided Conflicting Classifications		rs_142598777	6 SubmittersRCV000808133 RCV001553033 RCV002537282 RCV003147555
NM_198525.3(KIF7):c.3894G>A (p.Ala1298=)	SNV Germline	Chr15:89628557	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications		rs_370333561	2 SubmittersRCV001116731
NM_198525.3(KIF7):c.3519C>T (p.Asp1173=)	SNV Germline	Chr15:89629121	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications		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		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		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	Criteria Provided Conflicting Classifications		rs_375802364	3 SubmittersRCV001119732 RCV003898116
NM_198525.3(KIF7):c.3123G>A (p.Thr1041=)	SNV Germline	Chr15:89630482	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications		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		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		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		rs_141856439	3 SubmittersRCV001121813 RCV003883557
NM_198525.3(KIF7):c.588G>T (p.Leu196=)	SNV Germline	Chr15:89649309	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications		rs_191721354	2 SubmittersRCV001115334
NM_198525.3(KIF7):c.3319-13G>A	SNV Germline	Chr15:89629586	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications		rs_371154050	2 SubmittersRCV001118181
NM_198525.3(KIF7):c.2592+11C>T	SNV Germline	Chr15:89633675	Conflicting classifications of pathogenicity	Acrocallosal syndrome	Criteria Provided Conflicting Classifications		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		rs_202043641	2 SubmittersRCV001115335
NM_198525.3(KIF7):c.1443+2T>C	SNV Germline	Chr15:89648253	Conflicting classifications of pathogenicity	Condition: not provided Acrocallosal syndrome	Criteria Provided Conflicting Classifications		rs_751900799	2 SubmittersRCV001767173 RCV002540270
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		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		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		rs_771463286	1 SubmittersRCV001946770
NM_198525.3(KIF7):c.1546C>T (p.Gln516Ter)	SNV Germline	Chr15:89647610	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter		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	Criteria Provided Conflicting Classifications		rs_749948143	2 SubmittersRCV001912976 RCV003348598
NM_198525.3(KIF7):c.2192-1G>A	SNV Germline	Chr15:89642406	Likely pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter		rs_1424230161	1 SubmittersRCV001996002
NM_198525.3(KIF7):c.2551C>T (p.Arg851Cys)	SNV Germline	Chr15:89633727	Conflicting classifications of pathogenicity	Acrocallosal syndrome Inborn genetic diseases KIF7-related disorder	Criteria Provided Conflicting Classifications		rs_201341169	3 SubmittersRCV001892491 RCV002552860 RCV003956432
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			2 SubmittersRCV003041154 RCV003062510
NM_198525.3(KIF7):c.3553C>T (p.Gln1185Ter)	SNV Germline	Chr15:89629087	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003078262
NM_198525.3(KIF7):c.2770C>T (p.Gln924Ter)	SNV Germline	Chr15:89632945	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002647779
NM_198525.3(KIF7):c.2446C>T (p.Gln816Ter)	SNV Germline	Chr15:89633832	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002575376
NM_198525.3(KIF7):c.3514C>T (p.Arg1172Ter)	SNV Germline	Chr15:89629378	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002705785
NM_198525.3(KIF7):c.3318+1G>T	SNV Germline	Chr15:89630286	Likely pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			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			2 SubmittersRCV002834702 RCV003232688
NM_198525.3(KIF7):c.1789-2A>G	SNV Germline	Chr15:89646028	Likely pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002909384
NM_198525.3(KIF7):c.2287C>T (p.Gln763Ter)	SNV Germline	Chr15:89642310	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003042258
NM_198525.3(KIF7):c.2227C>T (p.Gln743Ter)	SNV Germline	Chr15:89642370	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003024631
NM_198525.3(KIF7):c.2895+1G>C	SNV Unknown	Chr15:89632819	Likely pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003147948
NM_198525.3(KIF7):c.2272G>T (p.Glu758Ter)	SNV Germline	Chr15:89642325	Likely pathogenic	Acrocallosal syndrome	No Assertion Criteria Provided			1 SubmittersRCV003326720
NM_198525.3(KIF7):c.3394C>T (p.Gln1132Ter)	SNV Germline	Chr15:89629498	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003514728
NM_198525.3(KIF7):c.1462C>T (p.Gln488Ter)	SNV Germline	Chr15:89647694	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003630321
NM_198525.3(KIF7):c.1329G>A (p.Trp443Ter)	SNV Germline	Chr15:89648369	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003630508
NM_198525.3(KIF7):c.3433C>T (p.Gln1145Ter)	SNV Germline	Chr15:89629459	Pathogenic	Acrocallosal syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003629901

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

SNV
Germline

Chr15:89649810

Pathogenic

Acrocallosal syndrome

No Assertion Criteria Provided

CA020407

rs_387907044

1 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
Condition: not provided
KIF7-related disorder

Criteria Provided
Conflicting Classifications

CA020421

rs_199959946

6 SubmittersRCV000193296 RCV000887476 RCV003390782 RCV003935073

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

SNV
Germline

Chr15:89649285

Conflicting classifications of pathogenicity

not specified
Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA020433

rs_398124613

5 SubmittersRCV000247230 RCV000723616 RCV001086808

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

SNV
Germline

Chr15:89648478

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Acrocallosal syndrome
Inborn genetic diseases

Criteria Provided
Conflicting Classifications

CA020189

rs_587780375

6 SubmittersRCV000117411 RCV001199843 RCV001083297 RCV002528215

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

SNV
Germline

Chr15:89633692

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA020278

rs_141097070

2 SubmittersRCV000174427 RCV001425627

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

not specified
Acrocallosal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA020390

rs_150248985

8 SubmittersRCV000175498 RCV000529413 RCV001200207

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

SNV
Germline

Chr15:89652870

Pathogenic/Likely pathogenic

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA020438

rs_794727316

4 SubmittersRCV000355275 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

Criteria Provided
Multiple Submitters
No Conflicts

CA276009

rs_797045093

2 SubmittersRCV000190601

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

4 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

Criteria Provided
Conflicting Classifications

CA7728123

rs_138354681

9 SubmittersRCV000239249 RCV000514812 RCV001086870 RCV001328108

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

SNV
Germline

Chr15:89628491

Conflicting classifications of pathogenicity

not specified
Acrocallosal syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA7727468

rs_141028210

6 SubmittersRCV000250252 RCV000337447 RCV000724872

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
Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7728334

rs_113112856

3 SubmittersRCV000254086 RCV000878309 RCV001422422

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

SNV
Germline

Chr15:89648521

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA7727686

rs_138196132

10 SubmittersRCV000305823 RCV000725922 RCV003930127

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

SNV
Germline

Chr15:89632854

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

CA7727926

rs_141463861

4 SubmittersRCV000364818 RCV001121707

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

Criteria Provided
Conflicting Classifications

CA7728691

rs_773325406

3 SubmittersRCV000389628 RCV001413056

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

Criteria Provided
Conflicting Classifications

CA7728596

rs_756368261

3 SubmittersRCV000368715 RCV003920336

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.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

4 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

Criteria Provided
Conflicting Classifications

CA7728232

rs_202089770

3 SubmittersRCV000402656 RCV003391144

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

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
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA7728659

rs_781752990

4 SubmittersRCV000623466 RCV001377834 RCV001821754

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

rs_1567057019

2 SubmittersRCV000689448 RCV000722544

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

SNV
Germline

Chr15:89648534

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome
KIF7-related disorder

Criteria Provided
Conflicting Classifications

rs_975756878

4 SubmittersRCV001585660 RCV000706565 RCV003892570

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

SNV
Germline

Chr15:89652864

Pathogenic

Acrocallosal syndrome
Multiple epiphyseal dysplasia, Al-Gazali type

Criteria Provided
Single Submitter

rs_1235928535

1 SubmittersRCV000714581 RCV000714582

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

rs_555659148

2 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

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

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

Criteria Provided
Conflicting Classifications

rs_141514601

4 SubmittersRCV000732836 RCV001088881

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

Criteria Provided
Conflicting Classifications

rs_143877028

5 SubmittersRCV000732838 RCV001087881 RCV001335631

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

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

rs_138764398

3 SubmittersRCV000734379 RCV001423785

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

SNV
Germline

Chr15:89628667

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Condition: not provided
Inborn genetic diseases
Hydrolethalus syndrome 2

Criteria Provided
Conflicting Classifications

rs_142598777

6 SubmittersRCV000808133 RCV001553033 RCV002537282 RCV003147555

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

SNV
Germline

Chr15:89628557

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

rs_370333561

2 SubmittersRCV001116731

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

SNV
Germline

Chr15:89629121

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

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

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

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

Criteria Provided
Conflicting Classifications

rs_375802364

3 SubmittersRCV001119732 RCV003898116

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

SNV
Germline

Chr15:89630482

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

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

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

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

rs_141856439

3 SubmittersRCV001121813 RCV003883557

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

SNV
Germline

Chr15:89649309

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

rs_191721354

2 SubmittersRCV001115334

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

SNV
Germline

Chr15:89629586

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

rs_371154050

2 SubmittersRCV001118181

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

SNV
Germline

Chr15:89633675

Conflicting classifications of pathogenicity

Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

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

rs_202043641

2 SubmittersRCV001115335

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

SNV
Germline

Chr15:89648253

Conflicting classifications of pathogenicity

Condition: not provided
Acrocallosal syndrome

Criteria Provided
Conflicting Classifications

rs_751900799

2 SubmittersRCV001767173 RCV002540270

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

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

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

rs_771463286

1 SubmittersRCV001946770

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

SNV
Germline

Chr15:89647610

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

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

Criteria Provided
Conflicting Classifications

rs_749948143

2 SubmittersRCV001912976 RCV003348598

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

SNV
Germline

Chr15:89642406

Likely pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

rs_1424230161

1 SubmittersRCV001996002

NM_198525.3(KIF7):c.2551C>T (p.Arg851Cys)

SNV
Germline

Chr15:89633727

Conflicting classifications of pathogenicity

Acrocallosal syndrome
Inborn genetic diseases
KIF7-related disorder

Criteria Provided
Conflicting Classifications

rs_201341169

3 SubmittersRCV001892491 RCV002552860 RCV003956432

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

2 SubmittersRCV003041154 RCV003062510

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

SNV
Germline

Chr15:89629087

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003078262

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

SNV
Germline

Chr15:89632945

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002647779

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

SNV
Germline

Chr15:89633832

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002575376

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

SNV
Germline

Chr15:89629378

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002705785

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

SNV
Germline

Chr15:89630286

Likely pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

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

2 SubmittersRCV002834702 RCV003232688

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

SNV
Germline

Chr15:89646028

Likely pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV002909384

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

SNV
Germline

Chr15:89642310

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003042258

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

SNV
Germline

Chr15:89642370

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003024631

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

SNV
Unknown

Chr15:89632819

Likely pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003147948

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

SNV
Germline

Chr15:89642325

Likely pathogenic

Acrocallosal syndrome

No Assertion Criteria Provided

1 SubmittersRCV003326720

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

SNV
Germline

Chr15:89629498

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003514728

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

SNV
Germline

Chr15:89647694

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003630321

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

SNV
Germline

Chr15:89648369

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003630508

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

SNV
Germline

Chr15:89629459

Pathogenic

Acrocallosal syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003629901