"See cases"[Disease/phenotype] AND "ISCA site 8"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57120	GRCh38/hg38 1p36.33-36.32(chr1:844347-2627474)x1	LOC129929114, LOC129929115 +244 more	Copy number loss	See cases	GPathogenic
Select item 147545	GRCh38/hg38 1p36.33-36.32(chr1:874379-4973261)x1	ACAP3, ACTRT2 +328 more	Copy number loss	See cases	GPathogenic
Select item 153078	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1	ACAP3, ACOT7 +578 more	Copy number loss	See cases	GPathogenic
Select item 146647	GRCh38/hg38 1p36.21(chr1:12800662-12858960)x1	HNRNPCL1, LINC01784 +2 more	Copy number loss	See cases	GBenign
Select item 147616	GRCh38/hg38 1p36.13(chr1:16487877-16778041)x1	FAM231AP, LINC01783 +14 more	Copy number loss	See cases	GBenign
Select item 147615	GRCh38/hg38 1p36.13(chr1:16487877-16778041)x3	FAM231AP, LINC01783 +14 more	Copy number gain	See cases	GBenign
Select item 146668	GRCh38/hg38 1p36.13(chr1:16615158-16905322)x3	FAM231AP, LINC03126 +17 more	Copy number gain	See cases	GBenign
Select item 146654	GRCh38/hg38 1p36.13(chr1:16621632-16905322)x1	FAM231AP, LINC03126 +17 more	Copy number loss	See cases	GBenign
Select item 147294	GRCh38/hg38 1p36.13(chr1:16637078-16727421)x1	FAM231AP, LOC129929533 +4 more	Copy number loss	See cases	GBenign
Select item 153081	GRCh38/hg38 1p36.11(chr1:25376278-25586537)x3	LDLRAP1, LOC129388472 +10 more	Copy number gain	See cases	GBenign
Select item 147884	GRCh38/hg38 1p31.1(chr1:71592911-73610754)x3	LINC01360, LINC02796 +8 more	Copy number gain	See cases	GUncertain significance
Select item 147262	GRCh38/hg38 1p31.1(chr1:71658412-71776282)x1	NEGR1	Copy number loss	See cases	GBenign
Select item 147656	GRCh38/hg38 1p31.1(chr1:76253265-76573667)x3	LOC126805762, LOC129930782 +1 more	Copy number gain	See cases	GBenign
Select item 147870	GRCh38/hg38 1p31.1(chr1:80621564-82040802)x1	ADGRL2, LINC01781 +5 more	Copy number loss	See cases	GBenign
Select item 146629	GRCh38/hg38 1p21.1(chr1:103280931-103754679)x1	AMY1A, AMY1B +8 more	Copy number loss	See cases	GBenign
Select item 147581	GRCh38/hg38 1p21.1(chr1:103549695-104099415)x1	AMY1A, AMY1B +4 more	Copy number loss	See cases	GBenign
Select item 154638	GRCh38/hg38 1p21.1(chr1:103582313-103754679)x3	AMY1A, AMY1B +2 more	Copy number gain	See cases	GBenign
Select item 146897	GRCh38/hg38 1p13.3(chr1:108807502-109134584)x3	AKNAD1, CFAP276 +21 more	Copy number gain	See cases	GUncertain significance
Select item 147710	GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3	ACP6, ANKRD34A +177 more	Copy number gain	See cases	GPathogenic
Select item 146422	GRCh38/hg38 1q21.1(chr1:145439580-147036021)x3	ANKRD34A, ANKRD35 +66 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 57296	GRCh38/hg38 1q21.1(chr1:145635445-146009630)x3	ANKRD34A, ANKRD35 +41 more	Copy number gain	See cases	GBenign
Select item 147673	GRCh38/hg38 1q21.1(chr1:146392296-146966240)x1	CH17-408M7.1, NBPF12	Copy number loss	See cases	GBenign
Select item 33743	GRCh38/hg38 1q21.1-21.2(chr1:146987841-148359881)x3	ACP6, BCL9 +49 more	Copy number gain	See cases	GPathogenic
Select item 58537	GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1	ACP6, BCL9 +33 more	Copy number loss	See cases	GPathogenic
Select item 147263	GRCh38/hg38 1q21.3(chr1:152566461-152613805)x1	LCE3C, LCE3D +1 more	Copy number loss	See cases	GBenign
Select item 57790	GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3	CHTOP, ILF2 +11 more	Copy number gain	See cases	GBenign
Select item 147654	GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3	ATP1A2, ATP1A4 +18 more	Copy number gain	See cases	GBenign
Select item 147554	GRCh38/hg38 1q23.2(chr1:160059626-160136196)x1	ATP1A2, IGSF8 +8 more	Copy number loss	See cases	GBenign
Select item 147553	GRCh38/hg38 1q23.2(chr1:160059626-160136196)x3	ATP1A2, IGSF8 +8 more	Copy number gain	See cases	GBenign
Select item 147868	GRCh38/hg38 1q25.1(chr1:174499030-174687658)x1	RABGAP1L	Copy number loss	See cases	GBenign
Select item 146665	GRCh38/hg38 1q25.3(chr1:183892070-184122138)x3	COLGALT2, LOC111501763 +10 more	Copy number gain	See cases	GBenign
Select item 147829	GRCh38/hg38 1q31.1(chr1:188236818-188605371)x1		Copy number loss	See cases	GBenign
Select item 154685	GRCh38/hg38 1q31.1(chr1:189160201-189955259)x3	LOC129388674, LOC129388675 +6 more	Copy number gain	See cases	GBenign
Select item 147972	GRCh38/hg38 1q31.1(chr1:189362122-189543758)x1	LOC129388675	Copy number loss	See cases	GBenign
Select item 147921	GRCh38/hg38 1q31.1(chr1:189460972-189593144)x1		Copy number loss	See cases	GBenign
Select item 147973	GRCh38/hg38 1q31.1-31.2(chr1:190515693-191621152)x3	LINC01680, LINC01720 +14 more	Copy number gain	See cases	GBenign
Select item 146928	GRCh38/hg38 1q31.3(chr1:194809903-195658107)x3	LOC129388714, LOC129388715 +4 more	Copy number gain	See cases	GBenign
Select item 153071	GRCh38/hg38 1q31.3(chr1:195293008-195379302)x1	LOC129388717	Copy number loss	See cases	GBenign
Select item 147700	GRCh38/hg38 1q31.3(chr1:196042751-196239755)x3	KCNT2, LINC01724	Copy number gain	See cases	GBenign
Select item 154616	GRCh38/hg38 1q31.3(chr1:196776934-196828033)x1	CFHR1, CFHR3	Copy number loss	See cases	GBenign
Select item 147573	GRCh38/hg38 1q31.3(chr1:196776934-196914268)x1	CFHR1, CFHR3 +3 more	Copy number loss	See cases	GBenign
Select item 147555	GRCh38/hg38 1q31.3(chr1:196776934-196828033)x3	CFHR1, CFHR3	Copy number gain	See cases	GBenign
Select item 154628	GRCh38/hg38 1q31.3(chr1:196819082-196914268)x1	CFHR1, CFHR4 +2 more	Copy number loss	See cases	GBenign
Select item 146603	GRCh38/hg38 1q31.3(chr1:196827974-196914268)x3	CFHR1, CFHR4 +2 more	Copy number gain	See cases	GBenign
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LOC129932948, LOC129932949 +954 more	Copy number gain	See cases	GPathogenic
Select item 147606	GRCh38/hg38 1q42.3-43(chr1:235387992-237270632)x3	ACTN2, B3GALNT2 +88 more	Copy number gain	See cases	GPathogenic
Select item 147900	GRCh38/hg38 1q44(chr1:245584422-246492114)x3	KIF26B, LOC110121251 +17 more	Copy number gain	See cases	GBenign
Select item 146568	GRCh38/hg38 1q44(chr1:247037209-247101457)x1	ZNF669, ZNF670 +1 more	Copy number loss	See cases	GBenign
Select item 146611	GRCh38/hg38 1q44(chr1:247532391-247897117)x3	GCSAML, LOC102724446 +17 more	Copy number gain	See cases	GBenign
Select item 147939	GRCh38/hg38 1q44(chr1:247682931-248093562)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 154541	GRCh38/hg38 1q44(chr1:247716624-248114768)x3	LOC115804254, LOC129388811 +17 more	Copy number gain	See cases	GBenign
Select item 147276	GRCh38/hg38 1q44(chr1:247798967-248521608)x3	LOC115804254, LOC126806088 +31 more	Copy number gain	See cases	GBenign
Select item 203409	NCBI36/hg18 1q21.1(chr1:142444242-142683157)x1		Copy number loss	See cases	GBenign
Select item 147618	GRCh37/hg19 1q21.1(chr1:143652719-143771002)x1	PPIAL4G	Copy number loss	See cases	GBenign
Select item 147572	GRCh37/hg19 1q21.1(chr1:144451745-144524956)x3		Copy number gain	See cases	GBenign
Select item 147571	GRCh37/hg19 1q21.1(chr1:144451745-144524956)x1		Copy number loss	See cases	Gconflicting data from submitters
Select item 153089	GRCh38/hg38 2p25.3(chr2:39193-992648)x1	ACP1, ALKAL2 +35 more	Copy number loss	See cases	GUncertain significance
Select item 147583	GRCh38/hg38 2p25.3(chr2:39193-1542734)x1	ACP1, ALKAL2 +41 more	Copy number loss	See cases	GPathogenic
Select item 147852	GRCh38/hg38 2p25.3(chr2:330817-943088)x3	LINC01115, LINC01865 +18 more	Copy number gain	See cases	GBenign
Select item 147872	GRCh38/hg38 2p25.3(chr2:888150-1491401)x3	LINC01939, LOC122710286 +7 more	Copy number gain	See cases	GBenign
Select item 147695	GRCh38/hg38 2p23.2-23.1(chr2:29578407-29941203)x1	ALK	Copy number loss	See cases	GBenign
Select item 154534	GRCh38/hg38 2p22.3(chr2:32289459-33024069)x3	BIRC6, BIRC6-AS2 +17 more	Copy number gain	See cases	GBenign
Select item 146924	GRCh38/hg38 2p22.1(chr2:39054693-39369157)x3	CDKL4, LOC112840931 +13 more	Copy number gain	See cases	GUncertain significance
Select item 146912	GRCh38/hg38 2p22.1(chr2:39185829-39378125)x3	CDKL4, LOC129388850 +2 more	Copy number gain	See cases	GBenign
Select item 153080	GRCh38/hg38 2p21(chr2:44004254-44049785)x1	LOC129933624	Copy number loss	See cases	GBenign
Select item 147899	GRCh38/hg38 2p21(chr2:44944718-44945255)x3	SIX3	Copy number gain	See cases	GBenign
Select item 147935	GRCh38/hg38 2p21(chr2:44945067-44945255)x3	SIX3	Copy number gain	See cases	GBenign
Select item 154531	GRCh38/hg38 2p21(chr2:46573689-46732838)x3	CRIPT, LOC129933670 +8 more	Copy number gain	See cases	GBenign
Select item 146630	GRCh38/hg38 2p16.1(chr2:60886284-60922484)x1	LOC122757949, REL	Copy number loss	See cases	GBenign
Select item 154674	GRCh38/hg38 2p14(chr2:67161296-67998206)x1	ETAA1, HHC2:066644 +11 more	Copy number loss	See cases	GUncertain significance
Select item 146628	GRCh38/hg38 2p13.3(chr2:70477119-70533315)x3	LOC120961765, TGFA +1 more	Copy number gain	See cases	GBenign
Select item 147277	GRCh38/hg38 2p11.2(chr2:87098178-87705899)x3	CYTOR, LINC01943 +4 more	Copy number gain	See cases	GBenign
Select item 147888	GRCh38/hg38 2p11.2(chr2:87148954-87655401)x3	CYTOR, LINC01943 +4 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 146182	GRCh38/hg38 2p11.2(chr2:87148954-87705899)x3	CYTOR, LINC01943 +4 more	Copy number gain	See cases	GConflicting classifications of pathogenicity
Select item 147897	GRCh38/hg38 2q11.2(chr2:96100812-97154835)x1	ADRA2B, ANKRD23 +120 more	Copy number loss	See cases	GUncertain significance
Select item 146178	GRCh38/hg38 2q13(chr2:110104900-110611314)x1	LIMS4, LINC01106 +11 more	Copy number loss	See cases	GBenign
Select item 146137	GRCh38/hg38 2q13(chr2:110104900-110201550)x1	LOC126806305, LOC126806306 +2 more	Copy number loss	See cases	GConflicting classifications of pathogenicity
Select item 144125	GRCh38/hg38 2q13(chr2:110104900-110207160)x1	LOC126806305, LOC126806306 +2 more	Copy number loss	See cases	GBenign
Select item 147940	GRCh38/hg38 2q13(chr2:110123660-110207160)x3	LOC126806306, NPHP1	Copy number gain	See cases	GBenign
Select item 146632	GRCh38/hg38 2q13(chr2:110143816-110222824)x1	LOC126806306, LOC129934555 +3 more	Copy number loss	See cases	GBenign
Select item 153087	GRCh38/hg38 2q13(chr2:110143902-110222910)x1	LOC126806306, LOC129934555 +3 more	Copy number loss	See cases	GBenign
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 147692	GRCh38/hg38 2q31.1-32.2(chr2:171429233-189179568)x1	AGPS, ATF2 +417 more	Copy number loss	See cases	GPathogenic
Select item 147705	GRCh38/hg38 2q31.1-32.2(chr2:174634502-189000964)x1	AGPS, ATF2 +307 more	Copy number loss	See cases	GPathogenic
Select item 147268	GRCh38/hg38 2q32.1(chr2:182195003-182635313)x3	LOC129935219, PDE1A	Copy number gain	See cases	GBenign
Select item 146616	GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1	ANKAR, ANKRD44 +329 more	Copy number loss	See cases	GPathogenic
Select item 154665	GRCh38/hg38 2q32.1-32.2(chr2:188335678-188503740)x1	GULP1	Copy number loss	See cases	GBenign
Select item 147273	GRCh38/hg38 2q32.1(chr2:188383776-188489768)x1	GULP1	Copy number loss	See cases	GBenign
Select item 146567	GRCh38/hg38 2q32.1-32.2(chr2:188489709-188597825)x1	GULP1	Copy number loss	See cases	GBenign
Select item 147739	GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1	AOX1, BZW1 +45 more	Copy number loss	See cases	GPathogenic
Select item 147740	GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1	ABI2, CARF +47 more	Copy number loss	See cases	GPathogenic
Select item 154539	GRCh38/hg38 2q37.1(chr2:232376206-232542668)x3	ALPG, ALPI +8 more	Copy number gain	See cases	GBenign
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 154536	GRCh38/hg38 2q37.3(chr2:241988449-242005889)x1	LINC01237, LOC285097	Copy number loss	See cases	GBenign
Select item 31952	GRCh38/hg38 2q37.3(chr2:241988449-242065208)x1	LOC122889016, LINC01237 +2 more	Copy number loss	See cases	GBenign
Select item 154618	GRCh38/hg38 2q37.3(chr2:242055528-242072968)x1	LINC01237, LINC01880 +1 more	Copy number loss	See cases	GBenign
Select item 147887	GRCh38/hg38 3p26.3(chr3:624574-1091944)x3	LINC01266, LOC129936035	Copy number gain	See cases	GBenign
Select item 146571	GRCh38/hg38 3p25.2(chr3:12642555-12734272)x3	LOC129936177, LOC129936178 +3 more	Copy number gain	See cases	GBenign

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