GRCh38/hg38 19q13.12(chr19:36439647-37163160)x1 |
copy number loss |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051288]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051288]|See cases [RCV000051288] |
Chr19:36439647..37163160 [GRCh38] Chr19:36930549..37654062 [GRCh37] Chr19:41622389..42345902 [NCBI36] Chr19:19q13.12 |
uncertain significance |
NM_001242800.1(ZNF790):c.1542C>T (p.Ala514=) |
single nucleotide variant |
Malignant melanoma [RCV000072104] |
Chr19:36818802 [GRCh38] Chr19:37309704 [GRCh37] Chr19:42001544 [NCBI36] Chr19:19q13.12 |
not provided |
NM_001242800.1(ZNF790):c.521A>T (p.Glu174Val) |
single nucleotide variant |
Malignant melanoma [RCV000072105] |
Chr19:36819823 [GRCh38] Chr19:37310725 [GRCh37] Chr19:42002565 [NCBI36] Chr19:19q13.12 |
not provided |
NM_206894.3(ZNF790):c.764A>G (p.Lys255Arg) |
single nucleotide variant |
Malignant melanoma [RCV000063521] |
Chr19:36819580 [GRCh38] Chr19:37310482 [GRCh37] Chr19:42002322 [NCBI36] Chr19:19q13.12 |
not provided |
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 |
copy number gain |
See cases [RCV000133888] |
Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31 |
pathogenic |
GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1 |
copy number loss |
See cases [RCV000135879] |
Chr19:29661858..38114723 [GRCh38] Chr19:30152765..38605363 [GRCh37] Chr19:34844605..43297203 [NCBI36] Chr19:19q12-13.13 |
pathogenic |
GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1 |
copy number loss |
See cases [RCV000136794] |
Chr19:29671324..37902990 [GRCh38] Chr19:30162231..38393630 [GRCh37] Chr19:34854071..43085470 [NCBI36] Chr19:19q12-13.13 |
pathogenic |
GRCh37/hg19 19q13.12-13.2(chr19:36685995-38708166)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207200] |
Chr19:36685995..38708166 [GRCh37] Chr19:19q13.12-13.2 |
uncertain significance |
chr19:36674305-38652962 complex variant |
complex |
Breast ductal adenocarcinoma [RCV000207036] |
Chr19:36674305..38652962 [GRCh37] Chr19:19q13.12-13.13 |
uncertain significance |
GRCh37/hg19 19q13.12-13.13(chr19:36475577-38399402)x3 |
copy number gain |
See cases [RCV000240597] |
Chr19:36475577..38399402 [GRCh37] Chr19:19q13.12-13.13 |
uncertain significance |
GRCh37/hg19 19q13.12(chr19:36910874-37705345)x1 |
copy number loss |
See cases [RCV000447259] |
Chr19:36910874..37705345 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q13.12(chr19:37130813-37342652)x3 |
copy number gain |
See cases [RCV000447637] |
Chr19:37130813..37342652 [GRCh37] Chr19:19q13.12 |
benign |
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 |
NM_206894.4(ZNF790):c.925C>T (p.Pro309Ser) |
single nucleotide variant |
not specified [RCV004321042] |
Chr19:36819419 [GRCh38] Chr19:37310321 [GRCh37] Chr19:19q13.12 |
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_206894.4(ZNF790):c.1435G>A (p.Glu479Lys) |
single nucleotide variant |
not specified [RCV004329000] |
Chr19:36818909 [GRCh38] Chr19:37309811 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1838T>C (p.Phe613Ser) |
single nucleotide variant |
not specified [RCV004304833] |
Chr19:36818506 [GRCh38] Chr19:37309408 [GRCh37] Chr19:19q13.12 |
uncertain significance |
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 |
NM_206894.4(ZNF790):c.1488C>G (p.His496Gln) |
single nucleotide variant |
not specified [RCV004296282] |
Chr19:36818856 [GRCh38] Chr19:37309758 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q13.11-13.12(chr19:35111811-37744992) |
copy number loss |
Generalized epilepsy with febrile seizures plus, type 1 [RCV000767768] |
Chr19:35111811..37744992 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
NM_206894.4(ZNF790):c.821G>A (p.Arg274Gln) |
single nucleotide variant |
not specified [RCV004332886] |
Chr19:36819523 [GRCh38] Chr19:37310425 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 |
copy number gain |
not provided [RCV000845733] |
Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33 |
pathogenic |
GRCh37/hg19 19q13.12(chr19:37325796-37516374)x1 |
copy number loss |
not provided [RCV001007044] |
Chr19:37325796..37516374 [GRCh37] Chr19:19q13.12 |
likely benign |
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3 |
copy number gain |
Specific learning disability [RCV001801194] |
Chr19:19546923..41313229 [GRCh37] Chr19:19p13.11-q13.2 |
pathogenic |
GRCh37/hg19 19q13.12(chr19:36910874-37705345) |
copy number loss |
not specified [RCV002052681] |
Chr19:36910874..37705345 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1299G>C (p.Trp433Cys) |
single nucleotide variant |
not specified [RCV004239812] |
Chr19:36819045 [GRCh38] Chr19:37309947 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1885A>G (p.Ser629Gly) |
single nucleotide variant |
not specified [RCV004239965] |
Chr19:36818459 [GRCh38] Chr19:37309361 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1552G>C (p.Gly518Arg) |
single nucleotide variant |
not specified [RCV004129724] |
Chr19:36818792 [GRCh38] Chr19:37309694 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1402C>T (p.His468Tyr) |
single nucleotide variant |
not specified [RCV004211528] |
Chr19:36818942 [GRCh38] Chr19:37309844 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.35T>A (p.Val12Glu) |
single nucleotide variant |
not specified [RCV004132056] |
Chr19:36823765 [GRCh38] Chr19:37314667 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1529A>G (p.Glu510Gly) |
single nucleotide variant |
not specified [RCV004204318] |
Chr19:36818815 [GRCh38] Chr19:37309717 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.334C>G (p.Leu112Val) |
single nucleotide variant |
not specified [RCV004128903] |
Chr19:36820010 [GRCh38] Chr19:37310912 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1393T>C (p.Phe465Leu) |
single nucleotide variant |
not specified [RCV004207206] |
Chr19:36818951 [GRCh38] Chr19:37309853 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.971A>T (p.His324Leu) |
single nucleotide variant |
not specified [RCV004179059] |
Chr19:36819373 [GRCh38] Chr19:37310275 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1603G>A (p.Val535Ile) |
single nucleotide variant |
not specified [RCV004237038] |
Chr19:36818741 [GRCh38] Chr19:37309643 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.970C>A (p.His324Asn) |
single nucleotide variant |
not specified [RCV004179057] |
Chr19:36819374 [GRCh38] Chr19:37310276 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1130G>A (p.Arg377His) |
single nucleotide variant |
not specified [RCV004189578] |
Chr19:36819214 [GRCh38] Chr19:37310116 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.720T>A (p.Ser240Arg) |
single nucleotide variant |
not specified [RCV004102195] |
Chr19:36819624 [GRCh38] Chr19:37310526 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1324A>G (p.Lys442Glu) |
single nucleotide variant |
not specified [RCV004156195] |
Chr19:36819020 [GRCh38] Chr19:37309922 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.373A>G (p.Thr125Ala) |
single nucleotide variant |
not specified [RCV004193494] |
Chr19:36819971 [GRCh38] Chr19:37310873 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1781A>C (p.Tyr594Ser) |
single nucleotide variant |
not specified [RCV004180671] |
Chr19:36818563 [GRCh38] Chr19:37309465 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1391A>G (p.Glu464Gly) |
single nucleotide variant |
not specified [RCV004250724] |
Chr19:36818953 [GRCh38] Chr19:37309855 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.347G>A (p.Cys116Tyr) |
single nucleotide variant |
not specified [RCV004277060] |
Chr19:36819997 [GRCh38] Chr19:37310899 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.931G>C (p.Glu311Gln) |
single nucleotide variant |
not specified [RCV004275882] |
Chr19:36819413 [GRCh38] Chr19:37310315 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1421G>C (p.Gly474Ala) |
single nucleotide variant |
not specified [RCV004351947] |
Chr19:36818923 [GRCh38] Chr19:37309825 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.315A>C (p.Arg105Ser) |
single nucleotide variant |
not specified [RCV004357349] |
Chr19:36820029 [GRCh38] Chr19:37310931 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.401A>C (p.Gln134Pro) |
single nucleotide variant |
not specified [RCV004356753] |
Chr19:36819943 [GRCh38] Chr19:37310845 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.989G>T (p.Arg330Ile) |
single nucleotide variant |
not specified [RCV004354442] |
Chr19:36819355 [GRCh38] Chr19:37310257 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q13.12(chr19:36804753-37720742)x1 |
copy number loss |
not provided [RCV003483353] |
Chr19:36804753..37720742 [GRCh37] Chr19:19q13.12 |
uncertain significance |
Single allele |
deletion |
not provided [RCV003448708] |
Chr19:35225414..37357598 [GRCh37] Chr19:19q13.11-13.12 |
pathogenic |
GRCh37/hg19 19q11-13.2(chr19:28271146-41508851)x3 |
copy number gain |
not specified [RCV003986115] |
Chr19:28271146..41508851 [GRCh37] Chr19:19q11-13.2 |
pathogenic |
NM_206894.4(ZNF790):c.466G>A (p.Val156Met) |
single nucleotide variant |
not specified [RCV004492821] |
Chr19:36819878 [GRCh38] Chr19:37310780 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1829T>G (p.Ile610Ser) |
single nucleotide variant |
not specified [RCV004492816] |
Chr19:36818515 [GRCh38] Chr19:37309417 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.55T>G (p.Trp19Gly) |
single nucleotide variant |
not specified [RCV004492822] |
Chr19:36823745 [GRCh38] Chr19:37314647 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1267G>C (p.Glu423Gln) |
single nucleotide variant |
not specified [RCV004492813] |
Chr19:36819077 [GRCh38] Chr19:37309979 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1523G>A (p.Cys508Tyr) |
single nucleotide variant |
not specified [RCV004492815] |
Chr19:36818821 [GRCh38] Chr19:37309723 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.249G>C (p.Gln83His) |
single nucleotide variant |
not specified [RCV004492818] |
Chr19:36820095 [GRCh38] Chr19:37310997 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.307A>T (p.Ile103Leu) |
single nucleotide variant |
not specified [RCV004492819] |
Chr19:36820037 [GRCh38] Chr19:37310939 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.32C>G (p.Ala11Gly) |
single nucleotide variant |
not specified [RCV004492820] |
Chr19:36823768 [GRCh38] Chr19:37314670 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.920A>G (p.Glu307Gly) |
single nucleotide variant |
not specified [RCV004492823] |
Chr19:36819424 [GRCh38] Chr19:37310326 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.952G>A (p.Ala318Thr) |
single nucleotide variant |
not specified [RCV004492824] |
Chr19:36819392 [GRCh38] Chr19:37310294 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1852G>A (p.Glu618Lys) |
single nucleotide variant |
not specified [RCV004602058] |
Chr19:36818492 [GRCh38] Chr19:37309394 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1385G>A (p.Gly462Asp) |
single nucleotide variant |
not specified [RCV004602060] |
Chr19:36818959 [GRCh38] Chr19:37309861 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1774A>G (p.Thr592Ala) |
single nucleotide variant |
not specified [RCV004602059] |
Chr19:36818570 [GRCh38] Chr19:37309472 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1114G>A (p.Gly372Arg) |
single nucleotide variant |
not specified [RCV004602061] |
Chr19:36819230 [GRCh38] Chr19:37310132 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.856G>C (p.Glu286Gln) |
single nucleotide variant |
not specified [RCV004886829] |
Chr19:36819488 [GRCh38] Chr19:37310390 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1340G>A (p.Arg447Lys) |
single nucleotide variant |
not specified [RCV004886830] |
Chr19:36819004 [GRCh38] Chr19:37309906 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1895T>G (p.Phe632Cys) |
single nucleotide variant |
not specified [RCV004886832] |
Chr19:36818449 [GRCh38] Chr19:37309351 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.312G>A (p.Met104Ile) |
single nucleotide variant |
not specified [RCV004886833] |
Chr19:36820032 [GRCh38] Chr19:37310934 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.725C>G (p.Thr242Ser) |
single nucleotide variant |
not specified [RCV004886836] |
Chr19:36819619 [GRCh38] Chr19:37310521 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.1577G>T (p.Arg526Ile) |
single nucleotide variant |
not specified [RCV004886831] |
Chr19:36818767 [GRCh38] Chr19:37309669 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.478C>T (p.His160Tyr) |
single nucleotide variant |
not specified [RCV004886828] |
Chr19:36819866 [GRCh38] Chr19:37310768 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.208G>A (p.Glu70Lys) |
single nucleotide variant |
not specified [RCV004886834] |
Chr19:36823306 [GRCh38] Chr19:37314208 [GRCh37] Chr19:19q13.12 |
uncertain significance |
NM_206894.4(ZNF790):c.875G>A (p.Ser292Asn) |
single nucleotide variant |
not specified [RCV004886835] |
Chr19:36819469 [GRCh38] Chr19:37310371 [GRCh37] Chr19:19q13.12 |
uncertain significance |
GRCh37/hg19 19q11-13.13(chr19:28271107-38637350)x1 |
copy number loss |
not provided [RCV004819395] |
Chr19:28271107..38637350 [GRCh37] Chr19:19q11-13.13 |
pathogenic |