ClinVar for MedGen (Select 442880) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25848971.	NM_015158.5(KANK1):c.3333+1G>A GRCh37: Chr9:734836 GRCh38: Chr9:734836	KANK1		Cerebral palsy, spastic quadriplegic, 2	Uncertain significance	criteria provided, single submitter
Select item 25823612.	NM_015158.5(KANK1):c.271T>A (p.Ser91Thr) GRCh37: Chr9:711037 GRCh38: Chr9:711037	KANK1	S91T	Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Feb 7, 2023)	criteria provided, single submitter
Select item 24329503.	NM_015158.5(KANK1):c.1225A>G (p.Met409Val) GRCh37: Chr9:711991 GRCh38: Chr9:711991	KANK1	M251V, M409V	Cerebral palsy, spastic quadriplegic, 2, Inborn genetic diseases	Uncertain significance (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24329494.	NM_015158.5(KANK1):c.2174A>C (p.Lys725Thr) GRCh37: Chr9:712940 GRCh38: Chr9:712940	KANK1	K567T, K725T	Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jun 7, 2021)	criteria provided, single submitter
Select item 21298565.	NM_015158.5(KANK1):c.2074A>G (p.Ile692Val) GRCh37: Chr9:712840 GRCh38: Chr9:712840	KANK1	I534V, I692V	Inborn genetic diseases, not provided, Cerebral palsy, spastic quadriplegic, 2	Conflicting interpretations of pathogenicity (May 3, 2023)	criteria provided, conflicting interpretations
Select item 16761166.	NM_015158.5(KANK1):c.3744C>T (p.Asp1248=) GRCh37: Chr9:742252 GRCh38: Chr9:742252	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Likely benign (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16624957.	NM_015158.5(KANK1):c.3245+9C>T GRCh37: Chr9:732626 GRCh38: Chr9:732626	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Likely benign (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16528768.	NM_015158.5(KANK1):c.1196G>A (p.Arg399Gln) GRCh37: Chr9:711962 GRCh38: Chr9:711962	KANK1	R241Q, R399Q	not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Sep 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16516239.	NM_015158.5(KANK1):c.9C>T (p.His3=) GRCh37: Chr9:676981 GRCh38: Chr9:676981	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 161330110.	NM_015158.5(KANK1):c.453C>T (p.Asn151=) GRCh37: Chr9:711219 GRCh38: Chr9:711219	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Benign/Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 160792211.	NM_015158.5(KANK1):c.3005+9A>T GRCh37: Chr9:731275 GRCh38: Chr9:731275	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Benign/Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 159373712.	NM_015158.5(KANK1):c.3554-5_3554-4insTA GRCh37: Chr9:740787-740788 GRCh38: Chr9:740787-740788	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Likely benign (Sep 20, 2021)	criteria provided, multiple submitters, no conflicts
Select item 159001313.	NM_015158.5(KANK1):c.1287A>C (p.Thr429=) GRCh37: Chr9:712053 GRCh38: Chr9:712053	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Likely benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158693914.	NM_015158.5(KANK1):c.93C>T (p.Tyr31=) GRCh37: Chr9:710859 GRCh38: Chr9:710859	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Feb 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 158120815.	NM_015158.5(KANK1):c.3807G>A (p.Thr1269=) GRCh37: Chr9:742315 GRCh38: Chr9:742315	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157201116.	NM_015158.5(KANK1):c.3057C>T (p.Ser1019=) GRCh37: Chr9:732429 GRCh38: Chr9:732429	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 157000417.	NM_015158.5(KANK1):c.3618C>T (p.Ala1206=) GRCh37: Chr9:740856 GRCh38: Chr9:740856	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Benign/Likely benign (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 155367118.	NM_015158.5(KANK1):c.857T>A (p.Val286Glu) GRCh37: Chr9:711623 GRCh38: Chr9:711623	KANK1	V128E, V286E	not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153822219.	NM_015158.5(KANK1):c.3696+8C>T GRCh37: Chr9:740942 GRCh38: Chr9:740942	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 153084120.	NM_015158.5(KANK1):c.1103G>A (p.Arg368Gln) GRCh37: Chr9:711869 GRCh38: Chr9:711869	KANK1	R210Q, R368Q	not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 152532721.	NM_015158.5(KANK1):c.2968G>A (p.Ala990Thr) GRCh37: Chr9:731229 GRCh38: Chr9:731229	KANK1	A814T, A972T, A990T, A832T	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 151890422.	NM_015158.5(KANK1):c.590CTT[1] (p.Ser198del) GRCh37: Chr9:711356-711358 GRCh38: Chr9:711356-711358	KANK1	S198del, S40del	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Dec 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 151015523.	NM_015158.5(KANK1):c.335A>C (p.Gln112Pro) GRCh37: Chr9:711101 GRCh38: Chr9:711101	KANK1	Q112P	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149922924.	NM_015158.5(KANK1):c.1216G>A (p.Glu406Lys) GRCh37: Chr9:711982 GRCh38: Chr9:711982	KANK1	E248K, E406K	Inborn genetic diseases, Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149794825.	NM_015158.5(KANK1):c.1997C>T (p.Pro666Leu) GRCh37: Chr9:712763 GRCh38: Chr9:712763	KANK1	P508L, P666L	Inborn genetic diseases, not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 149582926.	NM_015158.5(KANK1):c.3281A>G (p.Asn1094Ser) GRCh37: Chr9:734783 GRCh38: Chr9:734783	KANK1	N918S, N936S, N1076S, N1014S, N1094S, N838S, N856S	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (May 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149464427.	NM_015158.5(KANK1):c.2474A>G (p.His825Arg) GRCh37: Chr9:713240 GRCh38: Chr9:713240	KANK1	H667R, H825R	Cerebral palsy, spastic quadriplegic, 2, Inborn genetic diseases, not provided	Uncertain significance (May 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149380928.	NM_015158.5(KANK1):c.433C>T (p.Pro145Ser) GRCh37: Chr9:711199 GRCh38: Chr9:711199	KANK1	P145S	not provided, Inborn genetic diseases, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Mar 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 149004029.	NM_015158.5(KANK1):c.466A>G (p.Lys156Glu) GRCh37: Chr9:711232 GRCh38: Chr9:711232	KANK1	K156E	Cerebral palsy, spastic quadriplegic, 2, Inborn genetic diseases, not provided	Uncertain significance (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 148616630.	NM_015158.5(KANK1):c.2929A>G (p.Ile977Val) GRCh37: Chr9:731190 GRCh38: Chr9:731190	KANK1	I801V, I959V, I819V, I977V	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147899031.	NM_015158.5(KANK1):c.1909G>A (p.Val637Met) GRCh37: Chr9:712675 GRCh38: Chr9:712675	KANK1	V637M, V479M	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147889732.	NM_015158.5(KANK1):c.3842A>G (p.Glu1281Gly) GRCh37: Chr9:742350 GRCh38: Chr9:742350	KANK1	E1043G, E1201G, E1105G, E1263G, E1123G, E1281G, E1025G	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Apr 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147888433.	NM_015158.5(KANK1):c.3137T>C (p.Met1046Thr) GRCh37: Chr9:732509 GRCh38: Chr9:732509	KANK1	M888T, M1028T, M1046T, M870T	not provided, Inborn genetic diseases, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Dec 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 147701134.	NM_015158.5(KANK1):c.3995C>T (p.Pro1332Leu) GRCh37: Chr9:744588 GRCh38: Chr9:744588	KANK1	P1094L, P1076L, P1332L, P1174L, P1156L, P1252L, P1314L	Inborn genetic diseases, not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146863435.	NM_015158.5(KANK1):c.3486C>T (p.Gly1162=) GRCh37: Chr9:738437 GRCh38: Chr9:738437	KANK1, LOC126860554		Cerebral palsy, spastic quadriplegic, 2, not provided	Conflicting interpretations of pathogenicity (Aug 23, 2022)	criteria provided, conflicting interpretations
Select item 145087736.	NM_015158.5(KANK1):c.1269G>C (p.Lys423Asn) GRCh37: Chr9:712035 GRCh38: Chr9:712035	KANK1	K265N, K423N	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 145019437.	NM_015158.5(KANK1):c.3634_3636del (p.Lys1212del) GRCh37: Chr9:740870-740872 GRCh38: Chr9:740870-740872	KANK1	K1054del, K1132del, K1212del, K1194del, K974del, K956del, K1036del	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Apr 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144991838.	NM_015158.5(KANK1):c.3733G>A (p.Gly1245Arg) GRCh37: Chr9:742241 GRCh38: Chr9:742241	KANK1	G1087R, G1007R, G1245R, G989R, G1227R, G1069R, G1165R	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144633639.	NM_015158.5(KANK1):c.1943G>A (p.Arg648Gln) GRCh37: Chr9:712709 GRCh38: Chr9:712709	KANK1	R490Q, R648Q	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jan 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144621240.	NM_015158.5(KANK1):c.1412G>A (p.Arg471His) GRCh37: Chr9:712178 GRCh38: Chr9:712178	KANK1	R313H, R471H	Inborn genetic diseases, not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144618341.	NM_015158.5(KANK1):c.1069G>C (p.Val357Leu) GRCh37: Chr9:711835 GRCh38: Chr9:711835	KANK1	V199L, V357L	Inborn genetic diseases, Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Apr 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 144597842.	NM_015158.5(KANK1):c.683C>G (p.Ala228Gly) GRCh37: Chr9:711449 GRCh38: Chr9:711449	KANK1	A70G, A228G	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144151243.	NM_015158.5(KANK1):c.3382C>G (p.Gln1128Glu) GRCh37: Chr9:738333 GRCh38: Chr9:738333	KANK1, LOC126860554	Q1110E, Q1128E, Q952E, Q970E, Q1048E, Q872E, Q890E	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144096944.	NM_015158.5(KANK1):c.3869C>A (p.Pro1290His) GRCh37: Chr9:742377 GRCh38: Chr9:742377	KANK1	P1034H, P1290H, P1052H, P1114H, P1210H, P1272H, P1132H	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jun 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143497745.	NM_015158.5(KANK1):c.1260G>C (p.Arg420Ser) GRCh37: Chr9:712026 GRCh38: Chr9:712026	KANK1	R262S, R420S	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Sep 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 142284246.	NM_015158.5(KANK1):c.3880G>A (p.Gly1294Ser) GRCh37: Chr9:742388 GRCh38: Chr9:742388	KANK1	G1056S, G1214S, G1136S, G1118S, G1276S, G1038S, G1294S	Cerebral palsy, spastic quadriplegic, 2, Inborn genetic diseases, not provided	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141834847.	NM_015158.5(KANK1):c.2896+2T>G GRCh37: Chr9:730250 GRCh38: Chr9:730250	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Oct 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 141570548.	NM_015158.5(KANK1):c.46G>C (p.Gly16Arg) GRCh37: Chr9:710812 GRCh38: Chr9:710812	KANK1	G16R	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Apr 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 141146149.	NM_015158.5(KANK1):c.2366G>T (p.Gly789Val) GRCh37: Chr9:713132 GRCh38: Chr9:713132	KANK1	G631V, G789V	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jul 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140886850.	NM_015158.5(KANK1):c.3608C>T (p.Ala1203Val) GRCh37: Chr9:740846 GRCh38: Chr9:740846	KANK1	A1185V, A1045V, A1123V, A1027V, A947V, A1203V, A965V	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140870451.	NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln) GRCh37: Chr9:738477 GRCh38: Chr9:738477	KANK1, LOC126860554	E1158Q, E1000Q, E1018Q, E920Q, E1176Q, E1096Q, E938Q	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Feb 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140344252.	NM_015158.5(KANK1):c.3552C>T (p.Ala1184=) GRCh37: Chr9:738503 GRCh38: Chr9:738503	KANK1, LOC126860554		Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140175453.	NM_015158.5(KANK1):c.2261T>G (p.Val754Gly) GRCh37: Chr9:713027 GRCh38: Chr9:713027	KANK1	V754G, V596G	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (May 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 139809154.	NM_015158.5(KANK1):c.226C>T (p.Pro76Ser) GRCh37: Chr9:710992 GRCh38: Chr9:710992	KANK1	P76S	Inborn genetic diseases, not provided, Cerebral palsy, spastic quadriplegic, 2	Conflicting interpretations of pathogenicity (Oct 23, 2022)	criteria provided, conflicting interpretations
Select item 138998455.	NM_015158.5(KANK1):c.2143C>T (p.Arg715Trp) GRCh37: Chr9:712909 GRCh38: Chr9:712909	KANK1	R557W, R715W	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138341856.	NM_015158.5(KANK1):c.3764C>A (p.Ala1255Asp) GRCh37: Chr9:742272 GRCh38: Chr9:742272	KANK1	A1079D, A1175D, A999D, A1255D, A1097D, A1237D, A1017D	not provided, Cerebral palsy, spastic quadriplegic, 2, Inborn genetic diseases	Uncertain significance (Apr 11, 2023)	criteria provided, multiple submitters, no conflicts
Select item 138140957.	NM_015158.5(KANK1):c.2063C>T (p.Thr688Met) GRCh37: Chr9:712829 GRCh38: Chr9:712829	KANK1	T530M, T688M	not provided, Inborn genetic diseases, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Feb 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 136013358.	NM_015158.5(KANK1):c.2389G>A (p.Val797Met) GRCh37: Chr9:713155 GRCh38: Chr9:713155	KANK1	V639M, V797M	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Feb 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135612859.	NM_015158.5(KANK1):c.1818_1820del (p.Glu608del) GRCh37: Chr9:712584-712586 GRCh38: Chr9:712584-712586	KANK1	E450del, E608del	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 135569860.	NM_015158.5(KANK1):c.1882A>G (p.Ile628Val) GRCh37: Chr9:712648 GRCh38: Chr9:712648	KANK1	I470V, I628V	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Mar 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135522061.	NM_015158.5(KANK1):c.2153C>G (p.Ala718Gly) GRCh37: Chr9:712919 GRCh38: Chr9:712919	KANK1	A718G, A560G	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135369462.	NM_015158.5(KANK1):c.2342G>C (p.Cys781Ser) GRCh37: Chr9:713108 GRCh38: Chr9:713108	KANK1	C781S, C623S	Inborn genetic diseases, not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 135235563.	NM_015158.5(KANK1):c.148G>T (p.Asp50Tyr) GRCh37: Chr9:710914 GRCh38: Chr9:710914	KANK1	D50Y	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 135070164.	NM_015158.5(KANK1):c.1624G>A (p.Val542Met) GRCh37: Chr9:712390 GRCh38: Chr9:712390	KANK1	V384M, V542M	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 134896865.	NM_015158.5(KANK1):c.1607C>A (p.Thr536Lys) GRCh37: Chr9:712373 GRCh38: Chr9:712373	KANK1	T378K, T536K	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (May 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133487166.	NM_015158.5(KANK1):c.3213dup (p.Cys1072fs) GRCh37: Chr9:732583-732584 GRCh38: Chr9:732583-732584	KANK1	C1054fs, C1072fs, C896fs, C914fs	not specified, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 129986467.	NM_015158.5(KANK1):c.3996G>A (p.Pro1332=) GRCh37: Chr9:744589 GRCh38: Chr9:744589	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Oct 27, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116857268.	NM_015158.5(KANK1):c.3245+12T>C GRCh37: Chr9:732629 GRCh38: Chr9:732629	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 105840369.	NM_015158.5(KANK1):c.255A>G (p.Ile85Met) GRCh37: Chr9:711021 GRCh38: Chr9:711021	KANK1	I85M	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Oct 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 104886070.	NM_015158.5(KANK1):c.1901C>G (p.Ser634Cys) GRCh37: Chr9:712667 GRCh38: Chr9:712667	KANK1	S476C, S634C	Cerebral palsy, spastic quadriplegic, 2	Uncertain significance	no assertion criteria provided
Select item 103373971.	NM_015158.5(KANK1):c.3709del (p.Ala1237fs) GRCh37: Chr9:742216 GRCh38: Chr9:742216	KANK1	A1079fs, A1157fs, A981fs, A1237fs, A999fs, A1061fs, A1219fs	Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Sep 10, 2018)	criteria provided, single submitter
Select item 103373872.	NM_015158.5(KANK1):c.2683C>A (p.Leu895Met) GRCh37: Chr9:713449 GRCh38: Chr9:713449	KANK1	L737M, L895M	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jul 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 103373773.	NM_015158.5(KANK1):c.2020A>G (p.Ser674Gly) GRCh37: Chr9:712786 GRCh38: Chr9:712786	KANK1	S674G, S516G	Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Aug 14, 2018)	criteria provided, single submitter
Select item 102794574.	NM_015158.5(KANK1):c.1086G>C (p.Gln362His) GRCh37: Chr9:711852 GRCh38: Chr9:711852	KANK1	Q362H, Q204H	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93179375.	NM_015158.5(KANK1):c.3554-9_3554-5del GRCh37: Chr9:740770-740774 GRCh38: Chr9:740770-740774	KANK1		Cerebral palsy, spastic quadriplegic, 2	Benign (Sep 26, 2018)	criteria provided, single submitter
Select item 81034276.	NM_015158.5(KANK1):c.2077G>A (p.Glu693Lys) GRCh37: Chr9:712843 GRCh38: Chr9:712843	KANK1	E693K, E535K	Inborn genetic diseases, not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Jun 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78450877.	NM_015158.5(KANK1):c.2202G>T (p.Arg734=) GRCh37: Chr9:712968 GRCh38: Chr9:712968	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Likely benign (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 78252478.	NM_015158.5(KANK1):c.1533T>C (p.Val511=) GRCh37: Chr9:712299 GRCh38: Chr9:712299	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Jun 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 77894679.	NM_015158.5(KANK1):c.2556C>T (p.Phe852=) GRCh37: Chr9:713322 GRCh38: Chr9:713322	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75549880.	NM_015158.5(KANK1):c.2646T>G (p.Thr882=) GRCh37: Chr9:713412 GRCh38: Chr9:713412	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Benign/Likely benign (Sep 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 75106781.	NM_015158.5(KANK1):c.2064G>A (p.Thr688=) GRCh37: Chr9:712830 GRCh38: Chr9:712830	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74969682.	NM_015158.5(KANK1):c.2091C>T (p.Asn697=) GRCh37: Chr9:712857 GRCh38: Chr9:712857	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74472583.	NM_015158.5(KANK1):c.1011G>A (p.Arg337=) GRCh37: Chr9:711777 GRCh38: Chr9:711777	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74206484.	NM_015158.5(KANK1):c.564A>G (p.Gly188=) GRCh37: Chr9:711330 GRCh38: Chr9:711330	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73322385.	NM_015158.5(KANK1):c.624C>G (p.Ala208=) GRCh37: Chr9:711390 GRCh38: Chr9:711390	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Benign/Likely benign (Oct 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73154586.	NM_015158.5(KANK1):c.561T>C (p.Phe187=) GRCh37: Chr9:711327 GRCh38: Chr9:711327	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72111587.	NM_015158.5(KANK1):c.783G>A (p.Gln261=) GRCh37: Chr9:711549 GRCh38: Chr9:711549	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71882788.	NM_015158.5(KANK1):c.1491G>A (p.Ser497=) GRCh37: Chr9:712257 GRCh38: Chr9:712257	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71815589.	NM_015158.5(KANK1):c.2544G>C (p.Leu848=) GRCh37: Chr9:713310 GRCh38: Chr9:713310	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71702690.	NM_015158.5(KANK1):c.3912G>A (p.Ala1304=) GRCh37: Chr9:744505 GRCh38: Chr9:744505	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71653791.	NM_015158.5(KANK1):c.3870C>T (p.Pro1290=) GRCh37: Chr9:742378 GRCh38: Chr9:742378	KANK1		Cerebral palsy, spastic quadriplegic, 2, not provided	Benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71438492.	NM_015158.5(KANK1):c.1600G>A (p.Val534Met) GRCh37: Chr9:712366 GRCh38: Chr9:712366	KANK1	V376M, V534M	not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71248193.	NM_015158.5(KANK1):c.2847G>A (p.Thr949=) GRCh37: Chr9:730199 GRCh38: Chr9:730199	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70837994.	NM_015158.5(KANK1):c.1377G>A (p.Gln459=) GRCh37: Chr9:712143 GRCh38: Chr9:712143	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 70837895.	NM_015158.5(KANK1):c.804C>T (p.Ala268=) GRCh37: Chr9:711570 GRCh38: Chr9:711570	KANK1		not provided, Cerebral palsy, spastic quadriplegic, 2	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59211596.	NM_015158.5(KANK1):c.130G>T (p.Asp44Tyr) GRCh37: Chr9:710896 GRCh38: Chr9:710896	KANK1	D44Y	Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (May 30, 2018)	no assertion criteria provided
Select item 50228697.	NM_015158.5(KANK1):c.972T>A (p.Tyr324Ter) GRCh37: Chr9:711738 GRCh38: Chr9:711738	KANK1	Y324, Y166	Cerebral palsy, spastic quadriplegic, 2, not provided	Uncertain significance (Dec 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 45108898.	NM_015158.5(KANK1):c.1811G>A (p.Ser604Asn) GRCh37: Chr9:712577 GRCh38: Chr9:712577	KANK1	S604N, S446N	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43172399.	NM_015158.5(KANK1):c.2885C>T (p.Ala962Val) GRCh37: Chr9:730237 GRCh38: Chr9:730237	KANK1	A962V, A804V	Cerebral palsy, spastic quadriplegic, 2	Uncertain significance	criteria provided, single submitter
Select item 426868100.	NM_015158.5(KANK1):c.1652G>A (p.Cys551Tyr) GRCh37: Chr9:712418 GRCh38: Chr9:712418	KANK1	C551Y, C393Y	not provided, Cerebral palsy, spastic quadriplegic, 2	Uncertain significance (Oct 23, 2022)	criteria provided, multiple submitters, no conflicts

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