KANK1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	ACER2, ACO1 +1005 more	Copy number gain	See cases	GPathogenic
Select item 60415	GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1	AK3, BRD10 +270 more	Copy number loss	See cases	GPathogenic
Select item 152906	GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1	AK3, BRD10 +217 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC126860768, LOC126860769 +3785 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	LOC130001533, LOC130001534 +1213 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC124310660, LOC124310661 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC111413024, LOC111413033 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	ACER2, ACO1 +1061 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	STOML2, TAF1L +1119 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC116216098, LOC116216099 +3785 more	Copy number gain	See cases	GPathogenic
Select item 60416	GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 155570	GRCh38/hg38 9p24.3-24.1(chr9:203861-5094461)x1	AK3, CDC37L1 +125 more	Copy number loss	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	HRCT1, IFNA1 +882 more	Copy number gain	See cases	GPathogenic
Select item 154196	GRCh38/hg38 9p24.3-24.2(chr9:203861-4585050)x1	DMRT1, DMRT2 +96 more	Copy number loss	See cases	GPathogenic
Select item 153821	GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1	AK3, BRD10 +223 more	Copy number loss	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	DAPK1-IT1, DCAF10 +1366 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	INSL4, INSL6 +484 more	Copy number gain	See cases	GPathogenic
Select item 152335	GRCh38/hg38 9p24.3(chr9:203861-547543)x3	DOCK8, DOCK8-AS1 +11 more	Copy number gain	See cases	GUncertain significance
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LCN15, LCN2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 1684649	Single allele	LOC130001549, LOC130001550 +233 more	Deletion	Chromosome 9p deletion syndrome	GPathogenic
Select item 154897	GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1	DMRT2, DMRT3 +271 more	Copy number loss	See cases	GPathogenic
Select item 154749	GRCh38/hg38 9p24.3-24.1(chr9:204090-4970154)x3	AK3, CDC37L1 +119 more	Copy number gain	See cases	GPathogenic
Select item 150751	GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1	LOC121740738, LOC121740739 +228 more	Copy number loss	See cases	GPathogenic
Select item 144686	GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1	AK3, BRD10 +247 more	Copy number loss	See cases	GPathogenic
Select item 144450	GRCh38/hg38 9p24.3(chr9:204090-639077)x3	DOCK8, DOCK8-AS1 +13 more	Copy number gain	See cases	GBenign
Select item 151712	GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1	AK3, BRD10 +183 more	Copy number loss	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	LOC130001589, LOC130001590 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001787, LOC130001788 +983 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001685, LOC130001686 +898 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	DMRT2, DMRT3 +581 more	Copy number gain	See cases	GPathogenic
Select item 149256	GRCh38/hg38 9p24.3(chr9:204104-1457665)x1	DMRT1, DMRT2 +26 more	Copy number loss	See cases	GUncertain significance
Select item 149060	GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1	LOC130001480, LOC130001481 +230 more	Copy number loss	See cases	GPathogenic
Select item 149059	GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1	AK3, CD274 +155 more	Copy number loss	See cases	GPathogenic
Select item 148849	GRCh38/hg38 9p24.3-24.2(chr9:204104-3755031)x1	DMRT1, DMRT2 +75 more	Copy number loss	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	FAM242F, FAM27C +979 more	Copy number gain	See cases	GPathogenic
Select item 148677	GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1	LOC130001509, LOC130001510 +215 more	Copy number loss	See cases	GPathogenic
Select item 148598	GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1	AK3, BRD10 +256 more	Copy number loss	See cases	GPathogenic
Select item 148381	GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1	LOC130001462, LOC130001463 +224 more	Copy number loss	See cases	GPathogenic
Select item 148307	GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3	LOC130001518, LOC130001519 +233 more	Copy number gain	See cases	GPathogenic
Select item 148301	GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1	AK3, CD274 +155 more	Copy number loss	See cases	GPathogenic
Select item 148264	GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3	AK3, CDC37L1 +131 more	Copy number gain	See cases	GPathogenic
Select item 148184	GRCh38/hg38 9p24.3-24.2(chr9:204104-3367760)x1	DMRT1, DMRT2 +66 more	Copy number loss	See cases	GPathogenic
Select item 146684	GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1	LOC130001443, LOC130001444 +233 more	Copy number loss	See cases	GPathogenic
Select item 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	LOC130001453, LOC130001454 +303 more	Copy number loss	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 147839	GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1	AK3, BRD10 +233 more	Copy number loss	See cases	GPathogenic
Select item 147488	GRCh38/hg38 9p24.3(chr9:204193-1592365)x1	DMRT1, LOC110120591 +29 more	Copy number loss	See cases	GPathogenic
Select item 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	LOC113839543, LOC113839544 +290 more	Copy number loss	See cases	GPathogenic
Select item 146254	GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1	AK3, BRD10 +232 more	Copy number loss	See cases	GPathogenic
Select item 146231	GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1	AK3, BRD10 +215 more	Copy number loss	See cases	GPathogenic
Select item 144708	GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1	DMRT1, DMRT2 +82 more	Copy number loss	See cases	GPathogenic
Select item 144441	GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1	LOC130001462, LOC130001463 +233 more	Copy number loss	See cases	GPathogenic
Select item 144391	GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1	AK3, BRD10 +230 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	ADAMTSL1, AK3 +297 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC126860765, LOC126860766 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144246	GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1	LOC107882132, LOC108281132 +230 more	Copy number loss	See cases	GPathogenic
Select item 60431	GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1	DMRT3, DOCK8 +230 more	Copy number loss	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	LOC129929032, LOC130001435 +538 more	Copy number gain	See cases	GPathogenic
Select item 59837	GRCh38/hg38 9p24.3-24.2(chr9:204193-3468435)x3	DMRT1, DMRT2 +67 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001450, LOC130001451 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	LOC126860590, LOC126860591 +897 more	Copy number gain	See cases	GPathogenic
Select item 57180	GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1	AK3, BRD10 +255 more	Copy number loss	See cases	GPathogenic
Select item 57084	GRCh38/hg38 9p24.3(chr9:204193-1288113)x3	DMRT1, DMRT2 +26 more	Copy number gain	See cases	GUncertain significance
Select item 57026	GRCh38/hg38 9p24.3(chr9:204193-1516367)x1	DMRT1, DMRT2 +27 more	Copy number loss	See cases	GUncertain significance
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +898 more	Copy number gain	See cases	GPathogenic
Select item 152907	GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1	VLDLR-AS1, AK3 +233 more	Copy number loss	See cases	GPathogenic
Select item 151916	GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1	AK3, BRD10 +217 more	Copy number loss	See cases	GPathogenic
Select item 60441	GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1	LOC126860555, LOC126860556 +233 more	Copy number loss	See cases	GPathogenic
Select item 60440	GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1	AK3, BRD10 +179 more	Copy number loss	See cases	GPathogenic
Select item 59060	GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1	AK3, BRD10 +252 more	Copy number loss	See cases	GPathogenic
Select item 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	AK3, BRD10 +280 more	Copy number loss	See cases	GPathogenic
Select item 154621	GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1	AK3, BRD10 +213 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	ADAMTSL1, AK3 +295 more	Copy number loss	See cases	GPathogenic
Select item 146111	GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1	AK3, BRD10 +222 more	Copy number loss	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	KANK1, KCNV2 +893 more	Copy number gain	See cases	GPathogenic
Select item 59065	GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1	AK3, BRD10 +210 more	Copy number loss	See cases	GPathogenic
Select item 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	LOC130001488, LOC130001489 +292 more	Copy number loss	See cases	GPathogenic
Select item 59063	GRCh38/hg38 9p24.3-24.1(chr9:220253-5140455)x1	AK3, CDC37L1 +120 more	Copy number loss	See cases	GPathogenic
Select item 59062	GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1	AK3, BRD10 +172 more	Copy number loss	See cases	GPathogenic
Select item 59049	GRCh38/hg38 9p24.3(chr9:220253-1243237)x1	DMRT1, DMRT2 +20 more	Copy number loss	See cases	GUncertain significance
Select item 57352	GRCh38/hg38 9p24.3-24.2(chr9:220253-3793376)x1	DMRT1, DMRT2 +70 more	Copy number loss	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	ACER2, ADAMTSL1 +461 more	Copy number gain	See cases	GPathogenic
Select item 154563	GRCh38/hg38 9p24.3-24.2(chr9:266045-3346702)x1	DMRT1, DMRT2 +61 more	Copy number loss	See cases	GPathogenic
Select item 146543	GRCh38/hg38 9p24.3(chr9:280255-753314)x1	DOCK8, KANK1 +9 more	Copy number loss	See cases	GUncertain significance
Select item 59066	GRCh38/hg38 9p24.3-24.2(chr9:280255-3905421)x1	DMRT1, DMRT2 +73 more	Copy number loss	See cases	GPathogenic
Select item 59050	GRCh38/hg38 9p24.3(chr9:313298-472145)x1	DOCK8, KANK1 +2 more	Copy number loss	See cases	GUncertain significance
Select item 147452	GRCh38/hg38 9p24.3(chr9:314969-910448)x4	DMRT1, DOCK8 +11 more	Copy number gain	See cases	GUncertain significance
Select item 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	See cases	GPathogenic
Select item 150342	GRCh38/hg38 9p24.3(chr9:325759-500607)x3	DOCK8, KANK1 +2 more	Copy number gain	See cases	GBenign
Select item 145783	GRCh38/hg38 9p24.3(chr9:329684-500525)x3	DOCK8, KANK1 +2 more	Copy number gain	See cases	GBenign
Select item 151710	GRCh38/hg38 9p24.3(chr9:349034-862771)x3	DMRT1, DOCK8 +9 more	Copy number gain	See cases	GLikely benign
Select item 146419	GRCh38/hg38 9p24.3(chr9:381430-839211)x3	DOCK8, KANK1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 157131	NM_153186.4(KANK1):c.-312435_-438+216dup	DOCK8, KANK1 +5 more	Duplication	Normal pregnancy	Gnot provided
Select item 153864	GRCh38/hg38 9p24.3(chr9:396379-1198422)x3	DMRT1, DMRT2 +16 more	Copy number gain	See cases	GUncertain significance
Select item 153641	GRCh38/hg38 9p24.3(chr9:409397-560630)x1	DOCK8, KANK1 +3 more	Copy number loss	See cases	GUncertain significance
Select item 150271	GRCh38/hg38 9p24.3(chr9:459131-862833)x3	DMRT1, DOCK8 +9 more	Copy number gain	See cases	GBenign
Select item 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	ACER2, ADAMTSL1 +412 more	Copy number gain	See cases	GPathogenic

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