ClinVar for MedGen (Select 162915) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25034471.	NM_198525.3(KIF7):c.2272G>T (p.Glu758Ter) GRCh37: Chr15:90185556 GRCh38: Chr15:89642325	KIF7	E758*	Acrocallosal syndrome	Likely pathogenic (Apr 1, 2023)	no assertion criteria provided
Select item 24417002.	NM_198525.3(KIF7):c.2895+1G>C GRCh37: Chr15:90176050 GRCh38: Chr15:89632819	KIF7		Acrocallosal syndrome	Likely pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 24276593.	NC_000015.9:g.(?_90173498)_(90188702_?)dup GRCh37: Chr15:90173498-90188702	KIF7		Acrocallosal syndrome	Likely pathogenic (Jul 17, 2022)	criteria provided, single submitter
Select item 24202134.	NM_198525.3(KIF7):c.2719-5C>T GRCh37: Chr15:90176232 GRCh38: Chr15:89633001	KIF7		Acrocallosal syndrome	Likely benign (Jun 19, 2022)	criteria provided, single submitter
Select item 24169095.	NM_198525.3(KIF7):c.3379C>G (p.Gln1127Glu) GRCh37: Chr15:90172744 GRCh38: Chr15:89629513	KIF7, LOC126862216	Q1127E	Acrocallosal syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 24164576.	NM_198525.3(KIF7):c.3517+9C>A GRCh37: Chr15:90172597 GRCh38: Chr15:89629366	KIF7, LOC126862216		Acrocallosal syndrome	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 24139097.	NM_198525.3(KIF7):c.2993A>G (p.Gln998Arg) GRCh37: Chr15:90174844 GRCh38: Chr15:89631613	KIF7	Q998R	Acrocallosal syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 22634378.	NM_198525.3(KIF7):c.3773C>A (p.Ala1258Asp) GRCh37: Chr15:90171909 GRCh38: Chr15:89628678	KIF7	A1258D	Acrocallosal syndrome, Inborn genetic diseases	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22026599.	NM_198525.3(KIF7):c.3148G>A (p.Glu1050Lys) GRCh37: Chr15:90173688 GRCh38: Chr15:89630457	KIF7	E1050K	Acrocallosal syndrome	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 220264510.	NM_198525.3(KIF7):c.715G>A (p.Ala239Thr) GRCh37: Chr15:90192413 GRCh38: Chr15:89649182	KIF7	A239T	Acrocallosal syndrome	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 220238511.	NM_198525.3(KIF7):c.231C>G (p.Pro77=) GRCh37: Chr15:90195931 GRCh38: Chr15:89652700	KIF7		Acrocallosal syndrome	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 220202612.	NM_198525.3(KIF7):c.2847G>A (p.Leu949=) GRCh37: Chr15:90176099 GRCh38: Chr15:89632868	KIF7		Acrocallosal syndrome	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 220202013.	NM_198525.3(KIF7):c.2770C>T (p.Gln924Ter) GRCh37: Chr15:90176176 GRCh38: Chr15:89632945	KIF7	Q924*	Acrocallosal syndrome	Pathogenic (Dec 29, 2021)	criteria provided, single submitter
Select item 220079214.	NM_198525.3(KIF7):c.223G>A (p.Val75Ile) GRCh37: Chr15:90195939 GRCh38: Chr15:89652708	KIF7	V75I	Inborn genetic diseases, Acrocallosal syndrome	Uncertain significance (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 220035515.	NM_198525.3(KIF7):c.2339G>A (p.Arg780Gln) GRCh37: Chr15:90185489 GRCh38: Chr15:89642258	KIF7	R780Q	Acrocallosal syndrome	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 220025116.	NM_198525.3(KIF7):c.2576G>A (p.Arg859Gln) GRCh37: Chr15:90176933 GRCh38: Chr15:89633702	KIF7	R859Q	Acrocallosal syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 220015517.	NM_198525.3(KIF7):c.1491G>A (p.Ala497=) GRCh37: Chr15:90190896 GRCh38: Chr15:89647665	KIF7		Acrocallosal syndrome	Likely benign (Dec 3, 2021)	criteria provided, single submitter
Select item 219979718.	NM_198525.3(KIF7):c.1251C>A (p.Asp417Glu) GRCh37: Chr15:90191678 GRCh38: Chr15:89648447	KIF7	D417E	Acrocallosal syndrome	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 219860419.	NM_198525.3(KIF7):c.2519G>A (p.Arg840Lys) GRCh37: Chr15:90176990 GRCh38: Chr15:89633759	KIF7	R840K	Acrocallosal syndrome	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 219674520.	NM_198525.3(KIF7):c.1337C>A (p.Ala446Asp) GRCh37: Chr15:90191592 GRCh38: Chr15:89648361	KIF7	A446D	Acrocallosal syndrome	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 219586321.	NM_198525.3(KIF7):c.1843C>A (p.Leu615Met) GRCh37: Chr15:90189203 GRCh38: Chr15:89645972	KIF7	L615M	Acrocallosal syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 219527122.	NM_198525.3(KIF7):c.3913C>T (p.Arg1305Trp) GRCh37: Chr15:90171769 GRCh38: Chr15:89628538	KIF7	R1305W	Acrocallosal syndrome, Inborn genetic diseases	Uncertain significance (Jul 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219513323.	NM_198525.3(KIF7):c.2242C>T (p.Leu748=) GRCh37: Chr15:90185586 GRCh38: Chr15:89642355	KIF7		Acrocallosal syndrome	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 219504524.	NM_198525.3(KIF7):c.1646G>A (p.Arg549Gln) GRCh37: Chr15:90190203 GRCh38: Chr15:89646972	KIF7	R549Q	Acrocallosal syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 219402125.	NM_198525.3(KIF7):c.923+7T>C GRCh37: Chr15:90192198 GRCh38: Chr15:89648967	KIF7		Acrocallosal syndrome	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 219370526.	NM_198525.3(KIF7):c.2011T>G (p.Leu671Val) GRCh37: Chr15:90188594 GRCh38: Chr15:89645363	KIF7	L671V	Acrocallosal syndrome	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 219357027.	NM_198525.3(KIF7):c.3985C>T (p.Arg1329Ter) GRCh37: Chr15:90171697 GRCh38: Chr15:89628466	KIF7	R1329*	Acrocallosal syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 219060328.	NM_198525.3(KIF7):c.219C>G (p.Ala73=) GRCh37: Chr15:90195943 GRCh38: Chr15:89652712	KIF7		Acrocallosal syndrome	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 218994629.	NM_198525.3(KIF7):c.1203C>G (p.Ala401=) GRCh37: Chr15:90191726 GRCh38: Chr15:89648495	KIF7		Acrocallosal syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 218893530.	NM_198525.3(KIF7):c.2593-9C>T GRCh37: Chr15:90176506 GRCh38: Chr15:89633275	KIF7		Acrocallosal syndrome	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 218866731.	NM_198525.3(KIF7):c.1027G>A (p.Ala343Thr) GRCh37: Chr15:90191902 GRCh38: Chr15:89648671	KIF7	A343T	Acrocallosal syndrome	Uncertain significance (Jun 4, 2022)	criteria provided, single submitter
Select item 218844232.	NM_198525.3(KIF7):c.1194C>T (p.Ser398=) GRCh37: Chr15:90191735 GRCh38: Chr15:89648504	KIF7		Acrocallosal syndrome	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 218844033.	NM_198525.3(KIF7):c.3480C>G (p.His1160Gln) GRCh37: Chr15:90172643 GRCh38: Chr15:89629412	KIF7, LOC126862216	H1160Q	Acrocallosal syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 218838934.	NM_198525.3(KIF7):c.1134C>G (p.His378Gln) GRCh37: Chr15:90191795 GRCh38: Chr15:89648564	KIF7	H378Q	Acrocallosal syndrome	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 218746635.	NM_198525.3(KIF7):c.426T>C (p.His142=) GRCh37: Chr15:90193075 GRCh38: Chr15:89649844	KIF7		Acrocallosal syndrome	Likely benign (Aug 12, 2022)	criteria provided, single submitter
Select item 218596136.	NM_198525.3(KIF7):c.3953T>C (p.Phe1318Ser) GRCh37: Chr15:90171729 GRCh38: Chr15:89628498	KIF7	F1318S	Acrocallosal syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 218592737.	NM_198525.3(KIF7):c.2836A>G (p.Lys946Glu) GRCh37: Chr15:90176110 GRCh38: Chr15:89632879	KIF7	K946E	Acrocallosal syndrome	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 218513538.	NM_198525.3(KIF7):c.948G>T (p.Gly316=) GRCh37: Chr15:90191981 GRCh38: Chr15:89648750	KIF7		Acrocallosal syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 218473839.	NM_198525.3(KIF7):c.329-13G>A GRCh37: Chr15:90193185 GRCh38: Chr15:89649954	KIF7		Acrocallosal syndrome	Uncertain significance (May 6, 2022)	criteria provided, single submitter
Select item 218217740.	NM_198525.3(KIF7):c.2368G>T (p.Val790Phe) GRCh37: Chr15:90185460 GRCh38: Chr15:89642229	KIF7	V790F	Acrocallosal syndrome	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 218171941.	NM_198525.3(KIF7):c.2110G>A (p.Ala704Thr) GRCh37: Chr15:90188325 GRCh38: Chr15:89645094	KIF7	A704T	Acrocallosal syndrome	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 218132942.	NM_198525.3(KIF7):c.133G>C (p.Gly45Arg) GRCh37: Chr15:90196029 GRCh38: Chr15:89652798	KIF7	G45R	Acrocallosal syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 218064143.	NM_198525.3(KIF7):c.3331C>G (p.Arg1111Gly) GRCh37: Chr15:90172792 GRCh38: Chr15:89629561	KIF7, LOC126862216	R1111G	Acrocallosal syndrome	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 217996144.	NM_198525.3(KIF7):c.490C>T (p.Arg164Cys) GRCh37: Chr15:90193011 GRCh38: Chr15:89649780	KIF7	R164C	Acrocallosal syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 217841145.	NM_198525.3(KIF7):c.3286A>G (p.Thr1096Ala) GRCh37: Chr15:90173550 GRCh38: Chr15:89630319	KIF7	T1096A	Acrocallosal syndrome	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 217833946.	NM_198525.3(KIF7):c.2880C>A (p.Arg960=) GRCh37: Chr15:90176066 GRCh38: Chr15:89632835	KIF7		Acrocallosal syndrome	Likely benign (May 11, 2022)	criteria provided, single submitter
Select item 217714447.	NM_198525.3(KIF7):c.2963A>G (p.Lys988Arg) GRCh37: Chr15:90174874 GRCh38: Chr15:89631643	KIF7	K988R	Acrocallosal syndrome	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 217689248.	NM_198525.3(KIF7):c.885G>C (p.Arg295=) GRCh37: Chr15:90192243 GRCh38: Chr15:89649012	KIF7		Acrocallosal syndrome	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 217486849.	NM_198525.3(KIF7):c.808_810del (p.Lys270del) GRCh37: Chr15:90192318-90192320 GRCh38: Chr15:89649087-89649089	KIF7	K270del	Acrocallosal syndrome	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 217414550.	NM_198525.3(KIF7):c.2977C>T (p.Arg993Trp) GRCh37: Chr15:90174860 GRCh38: Chr15:89631629	KIF7	R993W	Acrocallosal syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 217405251.	NM_198525.3(KIF7):c.1322G>T (p.Arg441Leu) GRCh37: Chr15:90191607 GRCh38: Chr15:89648376	KIF7	R441L	Acrocallosal syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 217363552.	NM_198525.3(KIF7):c.1635G>C (p.Trp545Cys) GRCh37: Chr15:90190214 GRCh38: Chr15:89646983	KIF7	W545C	Acrocallosal syndrome	Uncertain significance (Dec 25, 2021)	criteria provided, single submitter
Select item 217337153.	NM_198525.3(KIF7):c.3664+16G>A GRCh37: Chr15:90172191 GRCh38: Chr15:89628960	KIF7, LOC126862216		Acrocallosal syndrome	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 217108254.	NM_198525.3(KIF7):c.2833AAG[1] (p.Lys946del) GRCh37: Chr15:90176108-90176110 GRCh38: Chr15:89632877-89632879	KIF7	K946del	Acrocallosal syndrome	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 217005355.	NM_198525.3(KIF7):c.1984A>G (p.Lys662Glu) GRCh37: Chr15:90188621 GRCh38: Chr15:89645390	KIF7	K662E	Acrocallosal syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 216944956.	NM_198525.3(KIF7):c.3687C>T (p.Cys1229=) GRCh37: Chr15:90171995 GRCh38: Chr15:89628764	KIF7, LOC126862216		Acrocallosal syndrome	Likely benign (Jul 27, 2022)	criteria provided, single submitter
Select item 216925157.	NM_198525.3(KIF7):c.1925A>G (p.Asn642Ser) GRCh37: Chr15:90188680 GRCh38: Chr15:89645449	KIF7	N642S	Acrocallosal syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 216692458.	NM_198525.3(KIF7):c.2298G>A (p.Leu766=) GRCh37: Chr15:90185530 GRCh38: Chr15:89642299	KIF7		Acrocallosal syndrome	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 216622959.	NM_198525.3(KIF7):c.3062G>A (p.Arg1021His) GRCh37: Chr15:90174775 GRCh38: Chr15:89631544	KIF7	R1021H	Acrocallosal syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 216579160.	NM_198525.3(KIF7):c.1917G>A (p.Leu639=) GRCh37: Chr15:90189129 GRCh38: Chr15:89645898	KIF7		Acrocallosal syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 216571961.	NM_198525.3(KIF7):c.2719-13_2719-12insCCTCCCTCCCTCCCTG GRCh37: Chr15:90176239-90176240 GRCh38: Chr15:89633008-89633009	KIF7		Acrocallosal syndrome	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 216524762.	NM_198525.3(KIF7):c.3112-18G>A GRCh37: Chr15:90173742 GRCh38: Chr15:89630511	KIF7		Acrocallosal syndrome	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 216514363.	NM_198525.3(KIF7):c.1904G>A (p.Arg635Gln) GRCh37: Chr15:90189142 GRCh38: Chr15:89645911	KIF7	R635Q	Acrocallosal syndrome	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 216511064.	NM_198525.3(KIF7):c.1717G>A (p.Ala573Thr) GRCh37: Chr15:90190132 GRCh38: Chr15:89646901	KIF7	A573T	Acrocallosal syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216282965.	NM_198525.3(KIF7):c.329-15G>T GRCh37: Chr15:90193187 GRCh38: Chr15:89649956	KIF7		Acrocallosal syndrome	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 216223966.	NM_198525.3(KIF7):c.1519C>G (p.Leu507Val) GRCh37: Chr15:90190868 GRCh38: Chr15:89647637	KIF7	L507V	Acrocallosal syndrome	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 216185567.	NM_198525.3(KIF7):c.362C>T (p.Pro121Leu) GRCh37: Chr15:90193139 GRCh38: Chr15:89649908	KIF7	P121L	Acrocallosal syndrome	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 216138068.	NM_198525.3(KIF7):c.386A>G (p.Lys129Arg) GRCh37: Chr15:90193115 GRCh38: Chr15:89649884	KIF7	K129R	Acrocallosal syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 216125069.	NM_198525.3(KIF7):c.2188A>C (p.Thr730Pro) GRCh37: Chr15:90188247 GRCh38: Chr15:89645016	KIF7	T730P	Acrocallosal syndrome	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 216116670.	NM_198525.3(KIF7):c.3664+2dup GRCh37: Chr15:90172204-90172205 GRCh38: Chr15:89628973-89628974	KIF7, LOC126862216		Acrocallosal syndrome	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 216097071.	NM_198525.3(KIF7):c.1034G>A (p.Arg345His) GRCh37: Chr15:90191895 GRCh38: Chr15:89648664	KIF7	R345H	Acrocallosal syndrome	Uncertain significance (May 31, 2022)	criteria provided, single submitter
Select item 216090372.	NM_198525.3(KIF7):c.1576G>C (p.Glu526Gln) GRCh37: Chr15:90190273 GRCh38: Chr15:89647042	KIF7	E526Q	Acrocallosal syndrome	Uncertain significance (Jul 2, 2022)	criteria provided, single submitter
Select item 215992173.	NM_198525.3(KIF7):c.328+17G>A GRCh37: Chr15:90195817 GRCh38: Chr15:89652586	KIF7		Acrocallosal syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 215986874.	NM_198525.3(KIF7):c.556G>C (p.Val186Leu) GRCh37: Chr15:90192572 GRCh38: Chr15:89649341	KIF7	V186L	Acrocallosal syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215972775.	NM_198525.3(KIF7):c.3133T>C (p.Leu1045=) GRCh37: Chr15:90173703 GRCh38: Chr15:89630472	KIF7		Acrocallosal syndrome	Likely benign (Jul 21, 2022)	criteria provided, single submitter
Select item 215942476.	NM_198525.3(KIF7):c.2191+16C>G GRCh37: Chr15:90188228 GRCh38: Chr15:89644997	KIF7		Acrocallosal syndrome	Likely benign (Feb 18, 2022)	criteria provided, single submitter
Select item 215876777.	NM_198525.3(KIF7):c.1560+5G>A GRCh37: Chr15:90190822 GRCh38: Chr15:89647591	KIF7		Acrocallosal syndrome	Uncertain significance (Apr 28, 2022)	criteria provided, single submitter
Select item 215850578.	NM_198525.3(KIF7):c.2643G>A (p.Thr881=) GRCh37: Chr15:90176447 GRCh38: Chr15:89633216	KIF7		Acrocallosal syndrome	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 215839179.	NM_198525.3(KIF7):c.1384_1385delinsTT (p.Ser462Phe) GRCh37: Chr15:90191544-90191545 GRCh38: Chr15:89648313-89648314	KIF7	S462F	Acrocallosal syndrome	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 215776280.	NM_198525.3(KIF7):c.3553C>T (p.Gln1185Ter) GRCh37: Chr15:90172318 GRCh38: Chr15:89629087	KIF7, LOC126862216	Q1185*	Acrocallosal syndrome	Pathogenic (Jul 4, 2022)	criteria provided, single submitter
Select item 215770681.	NM_198525.3(KIF7):c.3732G>A (p.Leu1244=) GRCh37: Chr15:90171950 GRCh38: Chr15:89628719	KIF7		Acrocallosal syndrome	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 215749882.	NM_198525.3(KIF7):c.1168C>G (p.Arg390Gly) GRCh37: Chr15:90191761 GRCh38: Chr15:89648530	KIF7	R390G	Acrocallosal syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 215697983.	NM_198525.3(KIF7):c.2508A>G (p.Gly836=) GRCh37: Chr15:90177001 GRCh38: Chr15:89633770	KIF7		Acrocallosal syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 215670284.	NM_198525.3(KIF7):c.3318+3G>A GRCh37: Chr15:90173515 GRCh38: Chr15:89630284	KIF7		Acrocallosal syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 215503185.	NM_198525.3(KIF7):c.2335G>A (p.Glu779Lys) GRCh37: Chr15:90185493 GRCh38: Chr15:89642262	KIF7	E779K	Acrocallosal syndrome	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 215452786.	NM_198525.3(KIF7):c.1303GCC[4] (p.Ala437_Arg438insAla) GRCh37: Chr15:90191617-90191618 GRCh38: Chr15:89648386-89648387	KIF7		Acrocallosal syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 215402987.	NM_198525.3(KIF7):c.3047C>T (p.Ser1016Leu) GRCh37: Chr15:90174790 GRCh38: Chr15:89631559	KIF7	S1016L	Acrocallosal syndrome	Uncertain significance (Dec 4, 2021)	criteria provided, single submitter
Select item 215381688.	NM_198525.3(KIF7):c.3489C>T (p.Asn1163=) GRCh37: Chr15:90172634 GRCh38: Chr15:89629403	KIF7, LOC126862216		Acrocallosal syndrome	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 215357489.	NM_198525.3(KIF7):c.1669G>A (p.Gly557Arg) GRCh37: Chr15:90190180 GRCh38: Chr15:89646949	KIF7	G557R	Acrocallosal syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 215279390.	NM_198525.3(KIF7):c.2039-11G>T GRCh37: Chr15:90188407 GRCh38: Chr15:89645176	KIF7		Acrocallosal syndrome	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 215086491.	NM_198525.3(KIF7):c.139G>A (p.Val47Ile) GRCh37: Chr15:90196023 GRCh38: Chr15:89652792	KIF7	V47I	Inborn genetic diseases, Acrocallosal syndrome	Uncertain significance (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214991592.	NM_198525.3(KIF7):c.3851G>C (p.Gly1284Ala) GRCh37: Chr15:90171831 GRCh38: Chr15:89628600	KIF7	G1284A	Acrocallosal syndrome	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 214924193.	NM_198525.3(KIF7):c.682C>T (p.Arg228Trp) GRCh37: Chr15:90192446 GRCh38: Chr15:89649215	KIF7	R228W	Acrocallosal syndrome	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 214863794.	NM_198525.3(KIF7):c.603G>C (p.Ala201=) GRCh37: Chr15:90192525 GRCh38: Chr15:89649294	KIF7		Acrocallosal syndrome	Likely benign (Oct 16, 2022)	criteria provided, single submitter
Select item 214836295.	NM_198525.3(KIF7):c.29G>A (p.Gly10Glu) GRCh37: Chr15:90196133 GRCh38: Chr15:89652902	KIF7	G10E	Acrocallosal syndrome	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 214821896.	NM_198525.3(KIF7):c.555C>T (p.Asp185=) GRCh37: Chr15:90192573 GRCh38: Chr15:89649342	KIF7		Acrocallosal syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 214811497.	NM_198525.3(KIF7):c.3744T>G (p.Leu1248=) GRCh37: Chr15:90171938 GRCh38: Chr15:89628707	KIF7		Acrocallosal syndrome	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 214797298.	NM_198525.3(KIF7):c.3366G>A (p.Ser1122=) GRCh37: Chr15:90172757 GRCh38: Chr15:89629526	KIF7, LOC126862216		Acrocallosal syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 214785699.	NM_198525.3(KIF7):c.2593-10C>T GRCh37: Chr15:90176507 GRCh38: Chr15:89633276	KIF7		Acrocallosal syndrome	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 2146417100.	NM_198525.3(KIF7):c.871G>A (p.Asp291Asn) GRCh37: Chr15:90192257 GRCh38: Chr15:89649026	KIF7	D291N	Acrocallosal syndrome	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter

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