"See cases"[Disease/phenotype] AND "ISCA site 15"[submitter] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 234

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58242	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1	LOC121967050, LOC121967051 +520 more	Copy number loss	See cases	GPathogenic
Select item 58037	GRCh38/hg38 1p36.33-36.32(chr1:826553-4719105)x3	ACAP3, ACTRT2 +332 more	Copy number gain	See cases	GPathogenic
Select item 58320	GRCh38/hg38 1p36.33(chr1:2112214-2241243)x1	FAAP20, LOC112268219 +10 more	Copy number loss	See cases	GPathogenic
Select item 59925	GRCh38/hg38 1p36.12(chr1:20482657-21271999)x1	CAMK2N1, CDA +28 more	Copy number loss	See cases	GPathogenic
Select item 59966	GRCh38/hg38 1p34.2-34.1(chr1:40462415-44668040)x1	ARTN, ATP6V0B +279 more	Copy number loss	See cases	GPathogenic
Select item 59969	GRCh38/hg38 1p32.3(chr1:54207426-54756958)x1	ACOT11, FAM151A +25 more	Copy number loss	See cases	GPathogenic
Select item 60009	GRCh38/hg38 1p21.1-13.3(chr1:106074587-110144290)x1	AHCYL1, AKNAD1 +148 more	Copy number loss	See cases	GPathogenic
Select item 59724	GRCh38/hg38 1q21.1(chr1:145694408-145802744)x1	CD160, LOC126805849 +3 more	Copy number loss	See cases	GUncertain significance
Select item 59723	GRCh38/hg38 1q21.1(chr1:145694408-145802744)x3	CD160, LOC126805849 +3 more	Copy number gain	See cases	GUncertain significance
Select item 160913	GRCh38/hg38 1q21.1-21.2(chr1:147093177-148262736)x1	ACP6, BCL9 +33 more	Copy number loss	See cases	GPathogenic
Select item 160920	GRCh38/hg38 1q21.3(chr1:153641117-153752390)x3	CHTOP, ILF2 +11 more	Copy number gain	See cases	GUncertain significance
Select item 57814	GRCh38/hg38 1q22-23.1(chr1:156593261-156653428)x3	BCAN, BCAN-AS1 +6 more	Copy number gain	See cases	GUncertain significance
Select item 57816	GRCh38/hg38 1q23.3(chr1:161513195-161671153)x3	FCGR2A, FCGR2B +13 more	Copy number gain	See cases	GUncertain significance
Select item 60079	GRCh38/hg38 1q31.3-32.1(chr1:198608514-199646718)x1	LINC01221, LINC01222 +20 more	Copy number loss	See cases	GPathogenic
Select item 60119	GRCh38/hg38 1q43(chr1:238412092-241098768)x1	CHRM3, CHRM3-AS1 +13 more	Copy number loss	See cases	GPathogenic
Select item 57847	GRCh38/hg38 1q43(chr1:239631841-242609012)x3	BECN2, CHML +35 more	Copy number gain	See cases	GUncertain significance
Select item 60156	GRCh38/hg38 1q43-44(chr1:242240797-245200164)x1	ADSS2, AKT3 +70 more	Copy number loss	See cases	GPathogenic
Select item 60157	GRCh38/hg38 1q43-44(chr1:242410569-245413313)x1	ADSS2, AKT3 +73 more	Copy number loss	See cases	GPathogenic
Select item 58837	GRCh38/hg38 2p25.2-25.1(chr2:6503572-7934538)x3	CMPK2, GRASLND +31 more	Copy number gain	See cases	GUncertain significance
Select item 60178	GRCh38/hg38 2p16.1-15(chr2:59224998-61621710)x1	BCL11A, C2orf74 +85 more	Copy number loss	See cases	GPathogenic
Select item 58875	GRCh38/hg38 2p11.2(chr2:86026429-86242094)x4	IMMT, LOC106783498 +22 more	Copy number gain	See cases	GUncertain significance
Select item 58900	GRCh38/hg38 2q12.2-12.3(chr2:105828398-108080417)x3	CD8B2, ECRG4 +33 more	Copy number gain	See cases	GUncertain significance
Select item 59313	GRCh38/hg38 2q12.2-13(chr2:106696282-110223328)x3	CCDC138, EDAR +93 more	Copy number gain	See cases	GUncertain significance
Select item 57565	GRCh38/hg38 2q13-14.1(chr2:110638242-112244051)x1	ACOXL, ACOXL-AS1 +45 more	Copy number loss	See cases	GUncertain significance
Select item 59150	GRCh38/hg38 2q24.1-24.3(chr2:154366788-167048902)x3	ACVR1, ACVR1C +275 more	Copy number gain	See cases	GPathogenic
Select item 60253	GRCh38/hg38 2q31.1-32.1(chr2:170407688-186189894)x1	AGPS, ATF2 +411 more	Copy number loss	See cases	GPathogenic
Select item 58846	GRCh38/hg38 2q36.1(chr2:223597428-224061556)x1	AP1S3, LOC112840902 +29 more	Copy number loss	See cases	GPathogenic
Select item 58848	GRCh38/hg38 2q36.3-37.2(chr2:227343278-235339168)x1	CCL20, CHRND +347 more	Copy number loss	See cases	GPathogenic
Select item 57694	GRCh38/hg38 3p26.1(chr3:7285435-7579379)x3	GRM7, GRM7-AS1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 57742	GRCh38/hg38 3p25.3(chr3:9654297-10228687)x1	ARPC4, ARPC4-TTLL3 +63 more	Copy number loss	See cases	GPathogenic
Select item 57700	GRCh38/hg38 3p24.3(chr3:18253476-20137057)x3	BALR6, EFHB +39 more	Copy number gain	See cases	GUncertain significance
Select item 59775	GRCh38/hg38 3q22.1(chr3:131273462-131383846)x3	LOC129937577, NEK11 +2 more	Copy number gain	See cases	GBenign
Select item 57795	GRCh38/hg38 3q22.3-23(chr3:138296035-139015548)x3	ARMC8, CEP70 +24 more	Copy number gain	See cases	GUncertain significance
Select item 57865	GRCh38/hg38 3q26.33(chr3:181504586-182287821)x1	LINC01206, LOC108281177 +8 more	Copy number loss	See cases	GPathogenic
Select item 59981	GRCh38/hg38 3q29(chr3:195755702-197583580)x3	LOC129938303, LOC129938304 +133 more	Copy number gain	See cases	GPathogenic
Select item 60163	GRCh38/hg38 4p16.3(chr4:1979219-1995442)x1	MIR943, NELFA +1 more	Copy number loss	See cases	GUncertain significance
Select item 57862	GRCh38/hg38 4q13.3(chr4:70727833-72040353)x3	DCK, GC +21 more	Copy number gain	See cases	GUncertain significance
Select item 57892	GRCh38/hg38 4q23(chr4:97972342-100038125)x3	ADH1A, ADH1B +59 more	Copy number gain	See cases	GUncertain significance
Select item 59480	GRCh38/hg38 4q28.1(chr4:124055204-126331108)x1	ANKRD50, FAT4 +8 more	Copy number loss	See cases	GPathogenic
Select item 60200	GRCh38/hg38 4q28.3-31.1(chr4:138370686-139672312)x1	ELF2, LINC00498 +48 more	Copy number loss	See cases	GUncertain significance
Select item 58045	GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3	LOC123493228, LOC123493229 +481 more	Copy number gain	See cases	GPathogenic
Select item 59511	GRCh38/hg38 4q34.1-35.2(chr4:173754675-189343295)x1	ACSL1, ADAM29 +330 more	Copy number loss	See cases	GPathogenic
Select item 59778	GRCh38/hg38 4q35.1(chr4:182915444-183265722)x3	DCTD, LOC112939927 +13 more	Copy number gain	See cases	GBenign
Select item 60227	GRCh38/hg38 5p15.1-14.3(chr5:17726921-18415513)x1	LINC02223	Copy number loss	See cases	GUncertain significance
Select item 60254	GRCh38/hg38 5p14.3(chr5:18415454-19617962)x1	CDH18, LOC112997585 +11 more	Copy number loss	See cases	GUncertain significance
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 58094	GRCh38/hg38 5p13.2-13.1(chr5:37016043-39383281)x3	C9, CPLANE1 +66 more	Copy number gain	See cases	GPathogenic
Select item 60262	GRCh38/hg38 5q13.2(chr5:71620401-71725140)x1	CARTPT, MCCC2	Copy number loss	See cases	GUncertain significance
Select item 59631	GRCh38/hg38 5q14.3(chr5:88720397-89487275)x1	LOC110120688, LOC110120771 +21 more	Copy number loss	See cases	GPathogenic
Select item 59443	GRCh38/hg38 5q15(chr5:93405010-97716265)x3	ARB2A, ARSK +120 more	Copy number gain	See cases	GUncertain significance
Select item 59671	GRCh38/hg38 5q21.1-22.2(chr5:102373396-113594030)x1	EPB41L4A-DT, APC +180 more	Copy number loss	See cases	GPathogenic
Select item 58789	GRCh38/hg38 5q22.1-22.2(chr5:112161743-112421091)x1	EPB41L4A, EPB41L4A-AS1 +5 more	Copy number loss	See cases	GUncertain significance
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 58357	GRCh38/hg38 5q23.2-23.3(chr5:126458947-128537986)x1	ALDH7A1, C5orf63 +49 more	Copy number loss	See cases	GPathogenic
Select item 58360	GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1	AFF4, AFF4-DT +147 more	Copy number loss	See cases	GPathogenic
Select item 58363	GRCh38/hg38 5q31.1-31.2(chr5:135894042-137619032)x1	CTB-1I21.1, IL9 +32 more	Copy number loss	See cases	GPathogenic
Select item 58388	GRCh38/hg38 5q31.2-32(chr5:138871137-145812309)x1	ANKHD1, ANKHD1-DT +377 more	Copy number loss	See cases	GPathogenic
Select item 58791	GRCh38/hg38 5q31.3(chr5:141185055-141211630)x1	PCDHB10, PCDHB11 +4 more	Copy number loss	See cases	GUncertain significance
Select item 58396	GRCh38/hg38 5q35.1-35.2(chr5:172961091-175054665)x1	ATP6V0E1, BNIP1 +81 more	Copy number loss	See cases	GPathogenic
Select item 59634	GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3	ARL10, B4GALT7 +137 more	Copy number gain	See cases	GPathogenic
Select item 59626	GRCh38/hg38 6q12(chr6:64549655-65570492)x1	EYS, LOC132089414 +15 more	Copy number loss	See cases	GBenign
Select item 59800	GRCh38/hg38 6q15(chr6:92014053-92467124)x3	LOC111429613, LOC126859745 +2 more	Copy number gain	See cases	GBenign
Select item 59801	GRCh38/hg38 6q25.1(chr6:151369093-151518210)x3	ARMT1, CCDC170 +10 more	Copy number gain	See cases	GBenign
Select item 58454	GRCh38/hg38 6q25.3(chr6:155869250-156798955)x1	ARID1B, LOC105378073 +24 more	Copy number loss	See cases	GPathogenic
Select item 58475	GRCh38/hg38 6q27(chr6:168180473-170583214)x1	C6orf120, DACT2 +68 more	Copy number loss	See cases	GPathogenic
Select item 58505	GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1	ACTB, FBXL18 +71 more	Copy number loss	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 59566	GRCh38/hg38 7p21.3(chr7:10106458-11714808)x4	LOC100131472, LOC110120772 +15 more	Copy number gain	See cases	GUncertain significance
Select item 59570	GRCh38/hg38 7p21.1(chr7:17183146-17612077)x3	AHR, LINC02888 +10 more	Copy number gain	See cases	GUncertain significance
Select item 58535	GRCh38/hg38 7p21.1-15.3(chr7:18505390-21417733)x1	ABCB5, FERD3L +63 more	Copy number loss	See cases	GPathogenic
Select item 58866	GRCh38/hg38 7p12.1-11.2(chr7:52114454-57434735)x1	CCT6A, CHCHD2 +107 more	Copy number loss	See cases	GUncertain significance
Select item 57789	GRCh38/hg38 7q11.1-11.21(chr7:61006478-62410831)x3	TRH-GTG2-1	Copy number gain	See cases	GUncertain significance
Select item 57566	GRCh38/hg38 7q11.21(chr7:65231558-65401160)x1	ZNF92	Copy number loss	See cases	GUncertain significance
Select item 59305	GRCh38/hg38 7q11.23(chr7:73096542-74727989)x1	ABHD11, ABHD11-AS1 +133 more	Copy number loss	See cases	GPathogenic
Select item 58896	GRCh38/hg38 7q11.23(chr7:75769688-76066509)x1	CCL24, CCL26 +25 more	Copy number loss	See cases	GUncertain significance
Select item 58933	GRCh38/hg38 7q36.1(chr7:149551612-149583388)x1	TRC-GCA22-1	Copy number loss	See cases	GUncertain significance
Select item 58374	GRCh38/hg38 7q36.3(chr7:157898696-158572709)x3	LOC110599567, LOC113687208 +13 more	Copy number gain	See cases	GUncertain significance
Select item 58376	GRCh38/hg38 7q36.3(chr7:158703702-159117047)x3	DYNC2I1, ESYT2 +23 more	Copy number gain	See cases	GUncertain significance
Select item 58380	GRCh38/hg38 8p23.2(chr8:2950225-4051517)x3	CSMD1, LOC105377785 +4 more	Copy number gain	See cases	GUncertain significance
Select item 160912	GRCh38/hg38 8p23.1(chr8:7411297-7895064)x3	DEFB103A, DEFB103B +26 more	Copy number gain	See cases	GBenign
Select item 59806	GRCh38/hg38 8p23.1-22(chr8:12383108-12809999)x3	FAM66A, FAM86B2 +18 more	Copy number gain	See cases	GBenign
Select item 60381	GRCh38/hg38 8q21.3-22.1(chr8:90940996-94538343)x1	C8orf88, CDH17 +72 more	Copy number loss	See cases	GPathogenic
Select item 60388	GRCh38/hg38 8q22.1(chr8:96065893-97276981)x1	CPQ, GDF6 +22 more	Copy number loss	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59121	GRCh38/hg38 9q22.32(chr9:95316018-95668838)x1	FANCC, LOC100507346 +17 more	Copy number loss	See cases	GPathogenic
Select item 59140	GRCh38/hg38 9q34.3(chr9:136926575-138114463)x1	ABCA2, ANAPC2 +166 more	Copy number loss	See cases	GPathogenic
Select item 446701	GRCh38/hg38 9q34.3(chr9:137484248-137696525)x3	ARRDC1, ARRDC1-AS1 +27 more	Copy number gain	See cases	GUncertain significance
Select item 57851	GRCh38/hg38 10p15.3(chr10:180143-550594)x3	DIP2C, LOC106783507 +9 more	Copy number gain	See cases	GUncertain significance
Select item 58778	GRCh38/hg38 10q24.32(chr10:101416272-101689575)x1	BTRC, DPCD +11 more	Copy number loss	See cases	GPathogenic
Select item 58827	GRCh38/hg38 10q26.3(chr10:129763050-131379342)x1	C10orf143, EBF3 +28 more	Copy number loss	See cases	GPathogenic
Select item 57950	GRCh38/hg38 10q26.3(chr10:132445383-133398465)x3	ADAM8, ADGRA1 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59812	GRCh38/hg38 10q26.3(chr10:133398406-133421339)x1	LOC130005030, LOC130005031 +2 more	Copy number loss	See cases	GBenign
Select item 57951	GRCh38/hg38 11p15.5(chr11:196966-251588)x3	BET1L, CIMAP1A +8 more	Copy number gain	See cases	GUncertain significance
Select item 59749	GRCh38/hg38 11p15.5(chr11:1923685-2003319)x3	H19, H19-ICR +9 more	Copy number gain	See cases	GPathogenic
Select item 58857	GRCh38/hg38 11p14.3(chr11:22115602-25375696)x1	ANO5, CCDC179 +38 more	Copy number loss	See cases	GPathogenic
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +79 more	Copy number loss	See cases	GPathogenic
Select item 58163	GRCh38/hg38 11q13.1(chr11:65881597-65893890)x3	CCDC85B, CTSW +8 more	Copy number gain	See cases	GUncertain significance
Select item 58182	GRCh38/hg38 11q13.4(chr11:73647348-73927680)x3	COA4, LOC116216151 +15 more	Copy number gain	See cases	GUncertain significance
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	ACAD8, ACRV1 +488 more	Copy number loss	See cases	GPathogenic
Select item 58189	GRCh38/hg38 11q24.1(chr11:122596622-122776303)x3	LOC124625856, LOC130006962 +4 more	Copy number gain	See cases	GUncertain significance

<< First< Prev

Page of 3