GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3 |
copy number gain |
See cases [RCV000050883] |
Chr19:50191219..58535818 [GRCh38] Chr19:50694476..59047185 [GRCh37] Chr19:55386288..63738997 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3 |
copy number gain |
See cases [RCV000052925] |
Chr19:49907832..58557889 [GRCh38] Chr19:50411089..59069256 [GRCh37] Chr19:55102901..63761068 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3 |
copy number gain |
See cases [RCV000052926] |
Chr19:51141518..58539965 [GRCh38] Chr19:51644775..59051332 [GRCh37] Chr19:56336587..63743144 [NCBI36] Chr19:19q13.41-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3 |
copy number gain |
See cases [RCV000052914] |
Chr19:47908540..58539965 [GRCh38] Chr19:48411797..59051332 [GRCh37] Chr19:53103609..63743144 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3 |
copy number gain |
See cases [RCV000052915] |
Chr19:47929575..58572206 [GRCh38] Chr19:48432832..59083573 [GRCh37] Chr19:53124644..63775385 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3 |
copy number gain |
See cases [RCV000135843] |
Chr19:50152520..58581203 [GRCh38] Chr19:50655777..59092570 [GRCh37] Chr19:55347589..63784382 [NCBI36] Chr19:19q13.33-13.43 |
pathogenic |
GRCh38/hg38 19q13.41(chr19:51202361-51993020)x3 |
copy number gain |
See cases [RCV000143450] |
Chr19:51202361..51993020 [GRCh38] Chr19:51705617..52496273 [GRCh37] Chr19:56397429..57188085 [NCBI36] Chr19:19q13.41 |
uncertain significance |
GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3 |
copy number gain |
See cases [RCV000445925] |
Chr19:50489390..59095359 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
NM_007147.4(ZNF175):c.1460A>G (p.Lys487Arg) |
single nucleotide variant |
not specified [RCV004293322] |
Chr19:51587791 [GRCh38] Chr19:52091044 [GRCh37] Chr19:19q13.41 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 |
copy number gain |
See cases [RCV000511289] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic|uncertain significance |
NM_007147.4(ZNF175):c.100G>A (p.Val34Met) |
single nucleotide variant |
not specified [RCV004297924] |
Chr19:51581418 [GRCh38] Chr19:52084671 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_007147.4(ZNF175):c.1467G>C (p.Gln489His) |
single nucleotide variant |
not specified [RCV004304750] |
Chr19:51587798 [GRCh38] Chr19:52091051 [GRCh37] Chr19:19q13.41 |
uncertain significance |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) |
copy number gain |
See cases [RCV000512296] |
Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 |
copy number gain |
not provided [RCV000752444] |
Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 |
copy number gain |
not provided [RCV000752439] |
Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43 |
pathogenic |
GRCh37/hg19 19q13.33-13.43(chr19:50740074-59097160)x3 |
copy number gain |
not provided [RCV000740208] |
Chr19:50740074..59097160 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 |
copy number gain |
not provided [RCV001007050] |
Chr19:44738088..53621561 [GRCh37] Chr19:19q13.31-13.42 |
pathogenic |
NM_007147.4(ZNF175):c.638G>T (p.Gly213Val) |
single nucleotide variant |
not specified [RCV004322781] |
Chr19:51586969 [GRCh38] Chr19:52090222 [GRCh37] Chr19:19q13.41 |
uncertain significance |
GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871) |
copy number gain |
not provided [RCV001249294] |
Chr19:47939842..54626871 [GRCh37] Chr19:19q13.32-13.42 |
not provided |
GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3 |
copy number gain |
not provided [RCV001259944] |
Chr19:48463931..57095254 [GRCh37] Chr19:19q13.33-13.43 |
pathogenic |
GRCh37/hg19 19q13.33-13.41(chr19:49911081-53127438) |
copy number gain |
not specified [RCV002052689] |
Chr19:49911081..53127438 [GRCh37] Chr19:19q13.33-13.41 |
likely pathogenic |
GRCh37/hg19 19q13.41(chr19:51769834-52415762)x3 |
copy number gain |
not provided [RCV001827892] |
Chr19:51769834..52415762 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1574A>T (p.His525Leu) |
single nucleotide variant |
not specified [RCV004307962] |
Chr19:51587905 [GRCh38] Chr19:52091158 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1904G>T (p.Arg635Ile) |
single nucleotide variant |
not specified [RCV004122512] |
Chr19:51588235 [GRCh38] Chr19:52091488 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1363G>A (p.Ala455Thr) |
single nucleotide variant |
not specified [RCV004085977] |
Chr19:51587694 [GRCh38] Chr19:52090947 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.2045A>G (p.Asn682Ser) |
single nucleotide variant |
not specified [RCV004134130] |
Chr19:51588376 [GRCh38] Chr19:52091629 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.158G>A (p.Arg53Gln) |
single nucleotide variant |
not specified [RCV004137818] |
Chr19:51581476 [GRCh38] Chr19:52084729 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_007147.4(ZNF175):c.676G>T (p.Val226Phe) |
single nucleotide variant |
not specified [RCV004147876] |
Chr19:51587007 [GRCh38] Chr19:52090260 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1747G>A (p.Gly583Ser) |
single nucleotide variant |
not specified [RCV004116663] |
Chr19:51588078 [GRCh38] Chr19:52091331 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1400G>T (p.Arg467Ile) |
single nucleotide variant |
not specified [RCV004180201] |
Chr19:51587731 [GRCh38] Chr19:52090984 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1615G>A (p.Ala539Thr) |
single nucleotide variant |
not specified [RCV004205762] |
Chr19:51587946 [GRCh38] Chr19:52091199 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.193G>T (p.Ala65Ser) |
single nucleotide variant |
not specified [RCV004184250] |
Chr19:51581511 [GRCh38] Chr19:52084764 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_007147.4(ZNF175):c.1027G>T (p.Val343Phe) |
single nucleotide variant |
not specified [RCV004214674] |
Chr19:51587358 [GRCh38] Chr19:52090611 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1125G>A (p.Met375Ile) |
single nucleotide variant |
not specified [RCV004132998] |
Chr19:51587456 [GRCh38] Chr19:52090709 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.70G>A (p.Glu24Lys) |
single nucleotide variant |
not specified [RCV004173536] |
Chr19:51573399 [GRCh38] Chr19:52076652 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.802A>G (p.Lys268Glu) |
single nucleotide variant |
not specified [RCV004165823] |
Chr19:51587133 [GRCh38] Chr19:52090386 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.284A>G (p.Gln95Arg) |
single nucleotide variant |
not specified [RCV004236756] |
Chr19:51581871 [GRCh38] Chr19:52085124 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1760A>G (p.Tyr587Cys) |
single nucleotide variant |
not specified [RCV004097909] |
Chr19:51588091 [GRCh38] Chr19:52091344 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1918G>A (p.Glu640Lys) |
single nucleotide variant |
not specified [RCV004191022] |
Chr19:51588249 [GRCh38] Chr19:52091502 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.680T>C (p.Val227Ala) |
single nucleotide variant |
not specified [RCV004175453] |
Chr19:51587011 [GRCh38] Chr19:52090264 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1309C>T (p.His437Tyr) |
single nucleotide variant |
not specified [RCV004176388] |
Chr19:51587640 [GRCh38] Chr19:52090893 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.653A>G (p.Asn218Ser) |
single nucleotide variant |
not specified [RCV004238471] |
Chr19:51586984 [GRCh38] Chr19:52090237 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.544A>G (p.Ile182Val) |
single nucleotide variant |
not specified [RCV004274032] |
Chr19:51586875 [GRCh38] Chr19:52090128 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1103G>A (p.Cys368Tyr) |
single nucleotide variant |
not specified [RCV004276161] |
Chr19:51587434 [GRCh38] Chr19:52090687 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.36G>C (p.Gln12His) |
single nucleotide variant |
not specified [RCV004267969] |
Chr19:51573365 [GRCh38] Chr19:52076618 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.767A>G (p.Gln256Arg) |
single nucleotide variant |
not specified [RCV004253782] |
Chr19:51587098 [GRCh38] Chr19:52090351 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1745C>G (p.Thr582Arg) |
single nucleotide variant |
not specified [RCV004319040] |
Chr19:51588076 [GRCh38] Chr19:52091329 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1988G>A (p.Arg663Gln) |
single nucleotide variant |
not specified [RCV004309574] |
Chr19:51588319 [GRCh38] Chr19:52091572 [GRCh37] Chr19:19q13.41 |
uncertain significance |
GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3 |
copy number gain |
not provided [RCV003485200] |
Chr19:49625130..57647352 [GRCh37] Chr19:19q13.33-13.43 |
likely pathogenic |
NM_007147.4(ZNF175):c.1351G>A (p.Glu451Lys) |
single nucleotide variant |
not specified [RCV004491553] |
Chr19:51587682 [GRCh38] Chr19:52090935 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.158G>C (p.Arg53Pro) |
single nucleotide variant |
not specified [RCV004491554] |
Chr19:51581476 [GRCh38] Chr19:52084729 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1670A>C (p.Lys557Thr) |
single nucleotide variant |
not specified [RCV004491556] |
Chr19:51588001 [GRCh38] Chr19:52091254 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.676G>A (p.Val226Ile) |
single nucleotide variant |
not specified [RCV004491561] |
Chr19:51587007 [GRCh38] Chr19:52090260 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.781T>C (p.Cys261Arg) |
single nucleotide variant |
not specified [RCV004491562] |
Chr19:51587112 [GRCh38] Chr19:52090365 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1975A>G (p.Lys659Glu) |
single nucleotide variant |
not specified [RCV004491558] |
Chr19:51588306 [GRCh38] Chr19:52091559 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.2065C>T (p.His689Tyr) |
single nucleotide variant |
not specified [RCV004491560] |
Chr19:51588396 [GRCh38] Chr19:52091649 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.851G>A (p.Cys284Tyr) |
single nucleotide variant |
not specified [RCV004491563] |
Chr19:51587182 [GRCh38] Chr19:52090435 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1652G>A (p.Arg551Lys) |
single nucleotide variant |
not specified [RCV004491555] |
Chr19:51587983 [GRCh38] Chr19:52091236 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.203A>T (p.Tyr68Phe) |
single nucleotide variant |
not specified [RCV004491559] |
Chr19:51581790 [GRCh38] Chr19:52085043 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.709T>C (p.Ser237Pro) |
single nucleotide variant |
not specified [RCV004687556] |
Chr19:51587040 [GRCh38] Chr19:52090293 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1289A>G (p.Gln430Arg) |
single nucleotide variant |
not specified [RCV004687559] |
Chr19:51587620 [GRCh38] Chr19:52090873 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1274G>C (p.Gly425Ala) |
single nucleotide variant |
not specified [RCV004688058] |
Chr19:51587605 [GRCh38] Chr19:52090858 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.2054A>G (p.Asn685Ser) |
single nucleotide variant |
not specified [RCV004687555] |
Chr19:51588385 [GRCh38] Chr19:52091638 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1382A>G (p.His461Arg) |
single nucleotide variant |
not specified [RCV004687557] |
Chr19:51587713 [GRCh38] Chr19:52090966 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.994G>T (p.Asp332Tyr) |
single nucleotide variant |
not specified [RCV004687553] |
Chr19:51587325 [GRCh38] Chr19:52090578 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.431G>A (p.Arg144His) |
single nucleotide variant |
not specified [RCV004688057] |
Chr19:51586762 [GRCh38] Chr19:52090015 [GRCh37] Chr19:19q13.41 |
likely benign |
NM_007147.4(ZNF175):c.383A>G (p.Asp128Gly) |
single nucleotide variant |
not specified [RCV004687558] |
Chr19:51586714 [GRCh38] Chr19:52089967 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.853G>T (p.Gly285Trp) |
single nucleotide variant |
not specified [RCV004687554] |
Chr19:51587184 [GRCh38] Chr19:52090437 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.749C>T (p.Thr250Ile) |
single nucleotide variant |
not specified [RCV004886110] |
Chr19:51587080 [GRCh38] Chr19:52090333 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1277A>T (p.Lys426Ile) |
single nucleotide variant |
not specified [RCV004886113] |
Chr19:51587608 [GRCh38] Chr19:52090861 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1355G>A (p.Cys452Tyr) |
single nucleotide variant |
not specified [RCV004886109] |
Chr19:51587686 [GRCh38] Chr19:52090939 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.557C>T (p.Pro186Leu) |
single nucleotide variant |
not specified [RCV004886115] |
Chr19:51586888 [GRCh38] Chr19:52090141 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.363G>T (p.Met121Ile) |
single nucleotide variant |
not specified [RCV004886119] |
Chr19:51586694 [GRCh38] Chr19:52089947 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.301G>A (p.Glu101Lys) |
single nucleotide variant |
not specified [RCV004886111] |
Chr19:51586632 [GRCh38] Chr19:52089885 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.679G>T (p.Val227Phe) |
single nucleotide variant |
not specified [RCV004886112] |
Chr19:51587010 [GRCh38] Chr19:52090263 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.789T>G (p.His263Gln) |
single nucleotide variant |
not specified [RCV004886114] |
Chr19:51587120 [GRCh38] Chr19:52090373 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.1390G>T (p.Val464Phe) |
single nucleotide variant |
not specified [RCV004886116] |
Chr19:51587721 [GRCh38] Chr19:52090974 [GRCh37] Chr19:19q13.41 |
uncertain significance |
NM_007147.4(ZNF175):c.101T>C (p.Val34Ala) |
single nucleotide variant |
not specified [RCV004886118] |
Chr19:51581419 [GRCh38] Chr19:52084672 [GRCh37] Chr19:19q13.41 |
uncertain significance |