ClinVar Miner

List of intergenic variants reported as likely pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP
10q21.3duplication
16q24.1duplication
19p13.12 duplication
1q41 duplication
20p12.1duplication
2q14.3duplication
2q24.3deletion
46;X;t(X;12)(p11.2;q24.33)dn
46;X;t(X;3)(p11.23;q13.2)dn
46;X;t(Y;16)(q11.23;p11.2);t(6;21)(p21.3;p13)dn
46;X;t(Y;3)(p11.2;p12.3)dn
46;XX;ins(3;1)(q23;p22p32)dn
46;XX;inv(1)(p36q25)dn
46;XX;inv(18)(q11.2q23)dn
46;XX;inv(5)(p12q13.1)dn
46;XX;inv(7)(q21.2q34)
46;XX;t(10;14)(p13;q21)dn
46;XX;t(1;19)(p34.1;p13.1)dn
46;XX;t(1;5)(p23;q15)dn
46;XX;t(1;5)(p31;q33)dn
46;XX;t(2;11)(p13.1;p15.5)dn
46;XX;t(2;11)(q33;q23)dn
46;XX;t(2;3)(q34;p23)
46;XX;t(2;8)(q33;p21)dn
46;XX;t(3;18;5;7)(p25;p11.2;q13.3;q32);t(9;18)(p22;q21)dn
46;XX;t(4;14)(p15.2;q13)dn
46;XX;t(5;15)(q15;q26.3)dn
46;XX;t(6;13)(q21;q32)dn
46;XX;t(6;15)(q23;q22)dn
46;XX;t(6;17)(q13;q21)dn
46;XX;t(6;21)(q14;q21)dn
46;XX;t(8;14)(q21.2;q12)dn
46;XY;inv(10)(q21.2q22.3)pat
46;XY;inv(14)(q13q24.1)
46;XY;inv(2)(q11.2q33)dn
46;XY;inv(22)(q11.2q13.3)
46;XY;inv(5)(q13q15)dn
46;XY;inv(7)(p15q34)mat
46;XY;t(1;12)(p32;p13)dn
46;XY;t(1;14)(p21.2;q11.2)dn;t(4;10)(p13;q11.2)dn
46;XY;t(1;2)(q31.2;p15)
46;XY;t(1;4)(q21.3;p15.2)dn
46;XY;t(1;6)(p32;p24)
46;XY;t(1;9;5)(compleX)dn
46;XY;t(2;14)(p22;q24.3)dn
46;XY;t(2;4)(p23;q27)dn
46;XY;t(2;6)(q32.3;q25.3)dn
46;XY;t(2;7)(q23;q32);t(5;6)(q23;q26)dn
46;XY;t(3;14)(p23;q13)dn
46;XY;t(3;17)(p14.3;q24.3)dn
46;XY;t(3;5)(q23;q13)dn
46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn
46;XY;t(5;7)(q14.3;q21.3)dn
46;XY;t(7;12)(q21.2;q14.2)
46;XY;t(7;15)(q21;q26)dn
46;XY;t(7;9)(q21;p23)dn
4q35.2deletion
5p15.31duplication
6p22.3duplication
6q23.3deletion
7q31.1duplication
8q24.13duplication
8q24.3duplication
GRCh37/hg19 10q21.1(chr10:54991837-55295059)x1
GRCh37/hg19 14q24.3-31.1(chr14:79293058-79466714)x1
GRCh37/hg19 19q13.42(chr19:53793603-53824343)x3
GRCh37/hg19 1p36.22(chr1:9444639-9502799)x1
GRCh37/hg19 20q11.23(chr20:34959766-34960308)x1
GRCh37/hg19 5q13.2(chr5:69408016-69408880)x4
NCBI36/hg18 10p15.3(chr10:106418-1791937)x3
NCBI36/hg18 10q26.13-26.3(chr10:126994683-131957921)x1
NCBI36/hg18 11q13.3(chr11:70496451-70581405)x1
NCBI36/hg18 16q24.2(chr16:85907310-86380860)x1
NCBI36/hg18 17p13.1(chr17:6853665-8107394)x4
NCBI36/hg18 2q11.2(chr2:96094786-97572638)x1
NCBI36/hg18 2q32.3-33.1(chr2:195941520-200787299)x1
NCBI36/hg18 4q21.22-21.3(chr4:83538638-87767627)x1
NCBI36/hg18 4q34.3-35.1(chr4:180056301-185397737)x3
NCBI36/hg18 5q31.2-32(chr5:138306445-143964773)x3
NCBI36/hg18 6q14.1-14.3(chr6:79678455-84862865)x1
NCBI36/hg18 6q16.1-16.3(chr6:97691375-103286627)x3
NCBI36/hg18 8q24.12(chr8:119981124-120831431)x1
NCBI36/hg18 8q24.13(chr8:125595512-126883514)x1
NC_000002.10:g.156460167_157638982del1178816
NC_000002.10:g.50979873_51700582del720710
NC_000005.9:g.154735732_155604899dup
NC_000005.9:g.155599390_155755985dup
NC_000006.12:g.135105435A>G rs4895441
NC_000013.9:g.94652853_98706628dup
NC_000014.9:g.38411139_38421941dup
NC_000015.8:g.21238307_32518050dup
NC_000015.8:g.23298670_24646413dup
NC_000022.9:g.19075762_19790658del714897
NC_012920.1:m.14743A>G rs527236161
NT_029419.13:g.18595G>T rs727505368
inv(X)(p22.2q28)
t(5;22)(q31.2;q12.1)

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