GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 |
copy number gain |
See cases [RCV000051097] |
Chr3:52266..37148076 [GRCh38] Chr3:93949..37189567 [GRCh37] Chr3:68949..37164571 [NCBI36] Chr3:3p26.3-22.2 |
pathogenic |
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 |
copy number gain |
See cases [RCV000051720] |
Chr3:11463328..38919543 [GRCh38] Chr3:11504802..38961034 [GRCh37] Chr3:11479802..38936038 [NCBI36] Chr3:3p25.3-22.2 |
pathogenic |
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 |
copy number gain |
See cases [RCV000141810] |
Chr3:53308..41381521 [GRCh38] Chr3:94991..41423012 [GRCh37] Chr3:69991..41398016 [NCBI36] Chr3:3p26.3-22.1 |
pathogenic |
GRCh37/hg19 3p24.1-22.3(chr3:29689082-34233218)x1 |
copy number loss |
See cases [RCV000240426] |
Chr3:29689082..34233218 [GRCh37] Chr3:3p24.1-22.3 |
pathogenic |
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140)x1 |
copy number loss |
See cases [RCV000447472] |
Chr3:25045365..32691140 [GRCh37] Chr3:3p24.2-22.3 |
likely pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 |
copy number gain |
See cases [RCV000448528] |
Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 |
copy number gain |
See cases [RCV000510429] |
Chr3:61891..33958201 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 |
copy number gain |
See cases [RCV000511463] |
Chr3:61891..37459464 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
NM_001137674.3(ZNF860):c.1504G>T (p.Ala502Ser) |
single nucleotide variant |
not specified [RCV004318196] |
Chr3:31990583 [GRCh38] Chr3:32032075 [GRCh37] Chr3:3p23 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 |
copy number gain |
See cases [RCV000511055] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) |
copy number gain |
See cases [RCV000512358] |
Chr3:61892..197851986 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p24.3-21.31(chr3:16923595-45249923)x2,3 |
copy number gain |
not provided [RCV000682249] |
Chr3:16923595..45249923 [GRCh37] Chr3:3p24.3-21.31 |
pathogenic |
GRCh37/hg19 3p23-22.3(chr3:31854742-32312549)x3 |
copy number gain |
not provided [RCV000682253] |
Chr3:31854742..32312549 [GRCh37] Chr3:3p23-22.3 |
uncertain significance |
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 |
copy number gain |
not provided [RCV000742138] |
Chr3:61495..197838262 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 |
copy number gain |
not provided [RCV000742133] |
Chr3:60174..197948027 [GRCh37] Chr3:3p26.3-q29 |
pathogenic |
NM_001137674.3(ZNF860):c.1874A>G (p.His625Arg) |
single nucleotide variant |
not specified [RCV004281586] |
Chr3:31990953 [GRCh38] Chr3:32032445 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.573G>A (p.Thr191=) |
single nucleotide variant |
not provided [RCV000955312] |
Chr3:31989652 [GRCh38] Chr3:32031144 [GRCh37] Chr3:3p23 |
benign |
NM_001137674.3(ZNF860):c.1071C>T (p.Leu357=) |
single nucleotide variant |
not provided [RCV000955313] |
Chr3:31990150 [GRCh38] Chr3:32031642 [GRCh37] Chr3:3p23 |
benign |
NM_001137674.3(ZNF860):c.1880G>A (p.Arg627His) |
single nucleotide variant |
not provided [RCV000955314] |
Chr3:31990959 [GRCh38] Chr3:32032451 [GRCh37] Chr3:3p23 |
benign |
GRCh37/hg19 3p23-22.3(chr3:31988552-32303140)x3 |
copy number gain |
not provided [RCV001259692] |
Chr3:31988552..32303140 [GRCh37] Chr3:3p23-22.3 |
uncertain significance |
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) |
copy number gain |
not specified [RCV002053300] |
Chr3:61891..36710181 [GRCh37] Chr3:3p26.3-22.2 |
pathogenic |
GRCh37/hg19 3p23-22.3(chr3:31859973-33127072) |
copy number gain |
not specified [RCV002053337] |
Chr3:31859973..33127072 [GRCh37] Chr3:3p23-22.3 |
uncertain significance |
GRCh37/hg19 3p24.2-22.3(chr3:25045365-32691140) |
copy number loss |
not specified [RCV002053334] |
Chr3:25045365..32691140 [GRCh37] Chr3:3p24.2-22.3 |
likely pathogenic |
NC_000003.11:g.(?_16710965)_(41275270_?)del |
deletion |
not provided [RCV001958625] |
Chr3:16710965..41275270 [GRCh37] Chr3:3p24.3-22.1 |
pathogenic |
NM_001137674.3(ZNF860):c.833G>C (p.Arg278Thr) |
single nucleotide variant |
not specified [RCV004307264] |
Chr3:31989912 [GRCh38] Chr3:32031404 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.209T>G (p.Met70Arg) |
single nucleotide variant |
not specified [RCV004327748] |
Chr3:31989288 [GRCh38] Chr3:32030780 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1352A>T (p.Glu451Val) |
single nucleotide variant |
not specified [RCV004092023] |
Chr3:31990431 [GRCh38] Chr3:32031923 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.995A>G (p.His332Arg) |
single nucleotide variant |
not specified [RCV004127282] |
Chr3:31990074 [GRCh38] Chr3:32031566 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.424G>A (p.Asp142Asn) |
single nucleotide variant |
not specified [RCV004241045] |
Chr3:31989503 [GRCh38] Chr3:32030995 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.167A>G (p.Asn56Ser) |
single nucleotide variant |
not specified [RCV004230018] |
Chr3:31989246 [GRCh38] Chr3:32030738 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1825C>T (p.Arg609Cys) |
single nucleotide variant |
not specified [RCV004209184] |
Chr3:31990904 [GRCh38] Chr3:32032396 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1263T>A (p.Asn421Lys) |
single nucleotide variant |
not specified [RCV004177740] |
Chr3:31990342 [GRCh38] Chr3:32031834 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1256T>G (p.Ile419Ser) |
single nucleotide variant |
not specified [RCV004107999] |
Chr3:31990335 [GRCh38] Chr3:32031827 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1337G>A (p.Arg446Gln) |
single nucleotide variant |
not specified [RCV004240568] |
Chr3:31990416 [GRCh38] Chr3:32031908 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.845G>C (p.Gly282Ala) |
single nucleotide variant |
not specified [RCV004104914] |
Chr3:31989924 [GRCh38] Chr3:32031416 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.456A>C (p.Lys152Asn) |
single nucleotide variant |
not specified [RCV004126283] |
Chr3:31989535 [GRCh38] Chr3:32031027 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1852G>A (p.Gly618Arg) |
single nucleotide variant |
not specified [RCV004134020] |
Chr3:31990931 [GRCh38] Chr3:32032423 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.933G>T (p.Glu311Asp) |
single nucleotide variant |
not specified [RCV004169324] |
Chr3:31990012 [GRCh38] Chr3:32031504 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.233C>G (p.Ala78Gly) |
single nucleotide variant |
not specified [RCV004091673] |
Chr3:31989312 [GRCh38] Chr3:32030804 [GRCh37] Chr3:3p23 |
likely benign |
NM_001137674.3(ZNF860):c.649C>T (p.Leu217Phe) |
single nucleotide variant |
not specified [RCV004242346] |
Chr3:31989728 [GRCh38] Chr3:32031220 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.746A>C (p.Gln249Pro) |
single nucleotide variant |
not specified [RCV004148685] |
Chr3:31989825 [GRCh38] Chr3:32031317 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.496C>T (p.Leu166Phe) |
single nucleotide variant |
not specified [RCV004114336] |
Chr3:31989575 [GRCh38] Chr3:32031067 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1673G>T (p.Arg558Ile) |
single nucleotide variant |
not specified [RCV004122999] |
Chr3:31990752 [GRCh38] Chr3:32032244 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.131C>T (p.Thr44Met) |
single nucleotide variant |
not specified [RCV004091817] |
Chr3:31989210 [GRCh38] Chr3:32030702 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.812G>A (p.Arg271Gln) |
single nucleotide variant |
not specified [RCV004276976] |
Chr3:31989891 [GRCh38] Chr3:32031383 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.122T>C (p.Leu41Pro) |
single nucleotide variant |
not specified [RCV004267479] |
Chr3:31989201 [GRCh38] Chr3:32030693 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1313G>A (p.Arg438His) |
single nucleotide variant |
not specified [RCV004248366] |
Chr3:31990392 [GRCh38] Chr3:32031884 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.818T>G (p.Leu273Arg) |
single nucleotide variant |
not specified [RCV004283314] |
Chr3:31989897 [GRCh38] Chr3:32031389 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1579C>T (p.Arg527Cys) |
single nucleotide variant |
not specified [RCV004253995] |
Chr3:31990658 [GRCh38] Chr3:32032150 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.415G>A (p.Asp139Asn) |
single nucleotide variant |
not specified [RCV004349661] |
Chr3:31989494 [GRCh38] Chr3:32030986 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.898A>C (p.Asn300His) |
single nucleotide variant |
not specified [RCV004351289] |
Chr3:31989977 [GRCh38] Chr3:32031469 [GRCh37] Chr3:3p23 |
uncertain significance |
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 |
copy number gain |
not specified [RCV003986437] |
Chr3:61891..33946644 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
NM_001137674.3(ZNF860):c.1703G>A (p.Cys568Tyr) |
single nucleotide variant |
not specified [RCV004495238] |
Chr3:31990782 [GRCh38] Chr3:32032274 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1841G>T (p.Arg614Ile) |
single nucleotide variant |
not specified [RCV004495239] |
Chr3:31990920 [GRCh38] Chr3:32032412 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.210G>A (p.Met70Ile) |
single nucleotide variant |
not specified [RCV004495240] |
Chr3:31989289 [GRCh38] Chr3:32030781 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.973C>T (p.Arg325Cys) |
single nucleotide variant |
not specified [RCV004495242] |
Chr3:31990052 [GRCh38] Chr3:32031544 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1013G>A (p.Gly338Glu) |
single nucleotide variant |
not specified [RCV004495237] |
Chr3:31990092 [GRCh38] Chr3:32031584 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.496C>G (p.Leu166Val) |
single nucleotide variant |
not specified [RCV004495241] |
Chr3:31989575 [GRCh38] Chr3:32031067 [GRCh37] Chr3:3p23 |
uncertain significance |
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 |
copy number gain |
not provided [RCV004577500] |
Chr3:60000..34461438 [GRCh37] Chr3:3p26.3-22.3 |
pathogenic |
NM_001137674.3(ZNF860):c.596C>T (p.Pro199Leu) |
single nucleotide variant |
not specified [RCV004603637] |
Chr3:31989675 [GRCh38] Chr3:32031167 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1349G>A (p.Gly450Glu) |
single nucleotide variant |
not specified [RCV004603632] |
Chr3:31990428 [GRCh38] Chr3:32031920 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.764G>A (p.Gly255Glu) |
single nucleotide variant |
not specified [RCV004603634] |
Chr3:31989843 [GRCh38] Chr3:32031335 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1289A>G (p.Lys430Arg) |
single nucleotide variant |
not specified [RCV004603635] |
Chr3:31990368 [GRCh38] Chr3:32031860 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.131C>A (p.Thr44Lys) |
single nucleotide variant |
not specified [RCV004603633] |
Chr3:31989210 [GRCh38] Chr3:32030702 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.109G>A (p.Glu37Lys) |
single nucleotide variant |
not specified [RCV004603638] |
Chr3:31989188 [GRCh38] Chr3:32030680 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1619G>T (p.Cys540Phe) |
single nucleotide variant |
not specified [RCV004891779] |
Chr3:31990698 [GRCh38] Chr3:32032190 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1474C>T (p.Arg492Cys) |
single nucleotide variant |
not specified [RCV004891780] |
Chr3:31990553 [GRCh38] Chr3:32032045 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.172A>G (p.Arg58Gly) |
single nucleotide variant |
not specified [RCV004891781] |
Chr3:31989251 [GRCh38] Chr3:32030743 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.587C>T (p.Ser196Phe) |
single nucleotide variant |
not specified [RCV004891782] |
Chr3:31989666 [GRCh38] Chr3:32031158 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.497T>C (p.Leu166Pro) |
single nucleotide variant |
not specified [RCV004891783] |
Chr3:31989576 [GRCh38] Chr3:32031068 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.988G>C (p.Glu330Gln) |
single nucleotide variant |
not specified [RCV004891778] |
Chr3:31990067 [GRCh38] Chr3:32031559 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1222A>G (p.Ser408Gly) |
single nucleotide variant |
not specified [RCV004891772] |
Chr3:31990301 [GRCh38] Chr3:32031793 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1658A>G (p.His553Arg) |
single nucleotide variant |
not specified [RCV004891773] |
Chr3:31990737 [GRCh38] Chr3:32032229 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1312C>T (p.Arg438Cys) |
single nucleotide variant |
not specified [RCV004891774] |
Chr3:31990391 [GRCh38] Chr3:32031883 [GRCh37] Chr3:3p23 |
likely benign |
NM_001137674.3(ZNF860):c.1118A>G (p.Asn373Ser) |
single nucleotide variant |
not specified [RCV004891775] |
Chr3:31990197 [GRCh38] Chr3:32031689 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1864T>C (p.Tyr622His) |
single nucleotide variant |
not specified [RCV004891776] |
Chr3:31990943 [GRCh38] Chr3:32032435 [GRCh37] Chr3:3p23 |
uncertain significance |
NM_001137674.3(ZNF860):c.1390C>T (p.His464Tyr) |
single nucleotide variant |
not specified [RCV004891777] |
Chr3:31990469 [GRCh38] Chr3:32031961 [GRCh37] Chr3:3p23 |
uncertain significance |