Related gene-specific medical variations for Gene (Select 23189) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3287303	NM_015158.5(KANK1):c.3496C>G (p.Leu1166Val)	KANK1, LOC126860554 (L1148V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3112594	NM_015158.5(KANK1):c.3387G>C (p.Lys1129Asn)	KANK1, LOC126860554 (K1049N +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3068059	NM_015158.5(KANK1):c.2918C>T (p.Thr973Ile)	KANK1 (T797I +3 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 2	GUncertain significance
Select item 3067886	NM_015158.5(KANK1):c.1507A>G (p.Lys503Glu)	KANK1 (K345E +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 2	GUncertain significance
Select item 3049818	NM_015158.5(KANK1):c.3507C>T (p.Ser1169=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	KANK1-related disorder	GLikely benign
Select item 3022469	NM_015158.5(KANK1):c.3428T>C (p.Phe1143Ser)	KANK1, LOC126860554 (F1063S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2986405	NM_015158.5(KANK1):c.3525C>A (p.Phe1175Leu)	KANK1, LOC126860554 (F1017L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2958603	NM_015158.5(KANK1):c.3448G>A (p.Val1150Ile)	KANK1, LOC126860554 (V1132I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2895115	NM_015158.5(KANK1):c.3398C>T (p.Pro1133Leu)	KANK1, LOC126860554 (P975L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869193	NM_015158.5(KANK1):c.3508G>T (p.Val1170Leu)	KANK1, LOC126860554 (V994L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2809501	NM_015158.5(KANK1):c.3548A>T (p.Asp1183Val)	KANK1, LOC126860554 (D927V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2800137	NM_015158.5(KANK1):c.3553+11T>C	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2729781	NM_015158.5(KANK1):c.3391G>C (p.Ala1131Pro)	KANK1, LOC126860554 (A1113P +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2711652	NM_015158.5(KANK1):c.3445G>C (p.Asp1149His)	KANK1, LOC126860554 (D1069H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2685330	GRCh37/hg19 9p24.3(chr9:479812-511756)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 2659023	NM_015158.5(KANK1):c.3478G>A (p.Gly1160Ser)	KANK1, LOC126860554 (G1002S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2659022	NM_015158.5(KANK1):c.3334-3C>T	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2582361	NM_015158.5(KANK1):c.271T>A (p.Ser91Thr)	KANK1 (S91T)	Single nucleotide variant (missense variant +2 more)	Cerebral palsy, spastic quadriplegic, 2	GUncertain significance
Select item 2553504	NM_015158.5(KANK1):c.3446A>G (p.Asp1149Gly)	KANK1, LOC126860554 (D1069G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527109	NM_015158.5(KANK1):c.3493G>A (p.Ala1165Thr)	KANK1, LOC126860554 (A1147T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2432949	NM_015158.5(KANK1):c.2174A>C (p.Lys725Thr)	KANK1 (K567T +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 2	GUncertain significance
Select item 2405970	NM_015158.5(KANK1):c.3422C>G (p.Ala1141Gly)	KANK1, LOC126860554 (A1141G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331916	NM_015158.5(KANK1):c.3436A>T (p.Ile1146Phe)	KANK1, LOC126860554 (I1066F +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232128	NM_015158.5(KANK1):c.3472G>A (p.Ala1158Thr)	KANK1, LOC126860554 (A1000T +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2175123	NM_015158.5(KANK1):c.3526G>A (p.Glu1176Lys)	KANK1, LOC126860554 (E1158K +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2166914	NM_015158.5(KANK1):c.3467A>G (p.Asn1156Ser)	LOC126860554, KANK1 (N1076S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2068306	NM_015158.5(KANK1):c.3448G>T (p.Val1150Phe)	KANK1, LOC126860554 (V894F +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1967760	NM_015158.5(KANK1):c.3334-13G>T	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1956814	NM_015158.5(KANK1):c.3477C>G (p.Asp1159Glu)	KANK1, LOC126860554 (D921E +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1940661	NM_015158.5(KANK1):c.3443C>G (p.Pro1148Arg)	KANK1, LOC126860554 (P1130R +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1936693	NM_015158.5(KANK1):c.3412G>T (p.Asp1138Tyr)	KANK1, LOC126860554 (D1058Y +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1912463	NM_015158.5(KANK1):c.3416A>G (p.Tyr1139Cys)	KANK1, LOC126860554 (Y1139C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1808128	GRCh37/hg19 9p24.3(chr9:535492-685819)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 1801406	NM_015158.5(KANK1):c.38-3358_38-2787del	KANK1	Deletion (intron variant)	Schizophrenia	GUncertain significance
Select item 1713606	NM_015158.5(KANK1):c.3514C>A (p.His1172Asn)	KANK1, LOC126860554 (H1014N +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1560930	NM_015158.5(KANK1):c.3444A>T (p.Pro1148=)	LOC126860554, KANK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1528254	NM_015158.5(KANK1):c.3484G>A (p.Gly1162Ser)	KANK1, LOC126860554 (G1004S +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1527494	GRCh37/hg19 9p24.3(chr9:611150-694567)	KANK1	Copy number loss	not specified	GUncertain significance
Select item 1527493	GRCh37/hg19 9p24.3(chr9:498269-566624)	KANK1	Copy number loss	not specified	GUncertain significance
Select item 1497475	NM_015158.5(KANK1):c.3374T>C (p.Val1125Ala)	KANK1, LOC126860554 (V1045A +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1468634	NM_015158.5(KANK1):c.3486C>T (p.Gly1162=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1441512	NM_015158.5(KANK1):c.3382C>G (p.Gln1128Glu)	KANK1, LOC126860554 (Q1110E +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1414269	NM_015158.5(KANK1):c.3454C>T (p.Arg1152Cys)	KANK1, LOC126860554 (R896C +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1408704	NM_015158.5(KANK1):c.3526G>C (p.Glu1176Gln)	KANK1, LOC126860554 (E1158Q +6 more)	Single nucleotide variant (missense variant +1 more)	Cerebral palsy, spastic quadriplegic, 2 +1 more	GUncertain significance
Select item 1405903	NM_015158.5(KANK1):c.3350C>T (p.Thr1117Ile)	KANK1, LOC126860554 (T1117I +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1403442	NM_015158.5(KANK1):c.3552C>T (p.Ala1184=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GUncertain significance
Select item 1360042	NM_015158.5(KANK1):c.3371G>A (p.Arg1124His)	KANK1, LOC126860554 (R1044H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1340609	GRCh37/hg19 9p24.3(chr9:525954-813180)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 1340304	GRCh37/hg19 9p24.3(chr9:519255-671330)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 1317412	NM_015158.5(KANK1):c.3553+133A>G	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317372	NM_015158.5(KANK1):c.3334-35A>G	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1250957	NM_015158.5(KANK1):c.3334-230T>C	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248129	NM_015158.5(KANK1):c.3334-47G>A	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1166353	NM_015158.5(KANK1):c.3483C>T (p.Asn1161=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 979257	GRCh37/hg19 9p24.3(chr9:518537-672786)x4	KANK1	Copy number gain	not provided	GUncertain significance
Select item 931793	NM_015158.5(KANK1):c.3554-9_3554-5del	KANK1	Deletion (intron variant)	Cerebral palsy, spastic quadriplegic, 2	GBenign
Select item 815203	GRCh37/hg19 9p24.3(chr9:500120-556856)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 815202	GRCh37/hg19 9p24.3(chr9:468704-579753)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 787064	NM_015158.5(KANK1):c.3372C>T (p.Arg1124=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 768274	NM_015158.5(KANK1):c.3553+5G>A	KANK1, LOC126860554	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733907	NM_015158.5(KANK1):c.3477C>T (p.Asp1159=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 724054	NM_015158.5(KANK1):c.3354C>G (p.Leu1118=)	KANK1, LOC126860554	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 687931	GRCh37/hg19 9p24.3(chr9:516412-548426)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 687707	GRCh37/hg19 9p24.3(chr9:608682-694567)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 687681	GRCh37/hg19 9p24.3(chr9:608645-694567)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 687633	GRCh37/hg19 9p24.3(chr9:611151-705528)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 687595	GRCh37/hg19 9p24.3(chr9:608682-705168)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 687406	GRCh37/hg19 9p24.3(chr9:525290-813180)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 686977	GRCh37/hg19 9p24.3(chr9:488090-516638)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 686906	GRCh37/hg19 9p24.3(chr9:661094-689472)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 686777	GRCh37/hg19 9p24.3(chr9:525750-813180)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 686703	GRCh37/hg19 9p24.3(chr9:512066-579753)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 686662	GRCh37/hg19 9p24.3(chr9:584086-706265)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 686622	GRCh37/hg19 9p24.3(chr9:608682-694567)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 686146	GRCh37/hg19 9p24.3(chr9:480919-706265)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 685657	GRCh37/hg19 9p24.3(chr9:608682-705931)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 685563	GRCh37/hg19 9p24.3(chr9:517445-633581)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 635938	Single allele	KANK1	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 591924	NM_015158.5(KANK1):c.1576dup (p.Met526fs)	KANK1 (M526fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 591877	NM_015158.5(KANK1):c.3112G>T (p.Glu1038Ter)	KANK1 (E1038* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 591876	NM_015158.5(KANK1):c.3361G>T (p.Glu1121Ter)	KANK1, LOC126860554 (E1121* +6 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 591874	NM_015158.5(KANK1):c.3117_3122dup (p.1039ED[3])	KANK1	Duplication (inframe_insertion +1 more)	not provided	GUncertain significance
Select item 591309	NM_015158.5(KANK1):c.1791del (p.Ser598fs)	KANK1 (S440fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 563618	GRCh37/hg19 9p24.3(chr9:525953-813198)x3	KANK1	Copy number gain	not provided	GUncertain significance
Select item 563583	GRCh37/hg19 9p24.3(chr9:608594-705931)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 563578	GRCh37/hg19 9p24.3(chr9:608702-694567)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 563558	GRCh37/hg19 9p24.3(chr9:512066-539674)x1	KANK1	Copy number loss	not provided	GUncertain significance
Select item 443929	GRCh37/hg19 9p24.3(chr9:517445-632804)x3	KANK1	Copy number gain	See cases	GUncertain significance
Select item 443628	GRCh37/hg19 9p24.3(chr9:525750-813180)x4	KANK1	Copy number gain	See cases	GUncertain significance
Select item 443458	GRCh37/hg19 9p24.3(chr9:637962-678832)x1	KANK1	Copy number loss	See cases	GUncertain significance
Select item 443392	GRCh37/hg19 9p24.3(chr9:533325-635302)x3	KANK1	Copy number gain	See cases	GUncertain significance
Select item 442506	GRCh37/hg19 9p24.3(chr9:495124-728789)x3	KANK1	Copy number gain	See cases	GLikely benign
Select item 442319	GRCh37/hg19 9p24.3(chr9:526008-813180)x3	KANK1	Copy number gain	See cases	GUncertain significance
Select item 442225	GRCh37/hg19 9p24.3(chr9:635338-685819)x1	KANK1	Copy number loss	See cases	Gconflicting data from submitters
Select item 442005	GRCh37/hg19 9p24.3(chr9:507002-568398)x1	KANK1	Copy number loss	See cases	GUncertain significance
Select item 441887	GRCh37/hg19 9p24.3(chr9:611150-694567)x1	KANK1	Copy number loss	See cases	GLikely benign
Select item 441864	GRCh37/hg19 9p24.3(chr9:608682-694567)x1	KANK1	Copy number loss	See cases	GUncertain significance
Select item 441755	GRCh37/hg19 9p24.3(chr9:608595-694567)x1	KANK1	Copy number loss	See cases	GUncertain significance
Select item 441622	GRCh37/hg19 9p24.3(chr9:525953-820485)x3	KANK1	Copy number gain	See cases	GUncertain significance
Select item 376922	NM_015158.5(KANK1):c.2479A>G (p.Ile827Val)	KANK1 (I827V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 100