GRCh38/hg38 16q23.1-24.3(chr16:78816291-90081985)x3 |
copy number gain |
See cases [RCV000050840] |
Chr16:78816291..90081985 [GRCh38] Chr16:78850188..90148393 [GRCh37] Chr16:77407689..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3 |
copy number gain |
See cases [RCV000052422] |
Chr16:70514631..90081985 [GRCh38] Chr16:70548534..90148393 [GRCh37] Chr16:69106035..88675894 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3 |
copy number gain |
See cases [RCV000052421] |
Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:76873569-90081985)x3 |
copy number gain |
See cases [RCV000052423] |
Chr16:76873569..90081985 [GRCh38] Chr16:76907466..90148393 [GRCh37] Chr16:75464967..88675894 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:82173150-90081985)x3 |
copy number gain |
See cases [RCV000052424] |
Chr16:82173150..90081985 [GRCh38] Chr16:82206755..90148393 [GRCh37] Chr16:80764256..88675894 [NCBI36] Chr16:16q23.3-24.3 |
pathogenic |
GRCh38/hg38 16q24.1-24.3(chr16:84707538-90081985)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052425]|See cases [RCV000052425] |
Chr16:84707538..90081985 [GRCh38] Chr16:84741144..90148393 [GRCh37] Chr16:83298645..88675894 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.2(chr16:78704275-87819342)x1 |
copy number loss |
See cases [RCV000053359] |
Chr16:78704275..87819342 [GRCh38] Chr16:78738172..87852948 [GRCh37] Chr16:77295673..86410449 [NCBI36] Chr16:16q23.1-24.2 |
pathogenic |
GRCh38/hg38 16q24.2-24.3(chr16:87306529-89269079)x1 |
copy number loss |
See cases [RCV000053362] |
Chr16:87306529..89269079 [GRCh38] Chr16:87340135..89335487 [GRCh37] Chr16:85897636..87862988 [NCBI36] Chr16:16q24.2-24.3 |
pathogenic |
NM_015144.2(ZCCHC14):c.2817C>T (p.Ala939=) |
single nucleotide variant |
Malignant melanoma [RCV000071265] |
Chr16:87410313 [GRCh38] Chr16:87443919 [GRCh37] Chr16:86001420 [NCBI36] Chr16:16q24.2 |
not provided |
GRCh38/hg38 16q24.1-24.2(chr16:86672163-87766879)x1 |
copy number loss |
See cases [RCV000134960] |
Chr16:86672163..87766879 [GRCh38] Chr16:86705769..87800485 [GRCh37] Chr16:85263270..86357986 [NCBI36] Chr16:16q24.1-24.2 |
likely pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:83988570-90081985)x3 |
copy number gain |
See cases [RCV000135659] |
Chr16:83988570..90081985 [GRCh38] Chr16:84022175..90148393 [GRCh37] Chr16:82579676..88675894 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh38/hg38 16q24.2(chr16:87223779-87853460)x1 |
copy number loss |
See cases [RCV000135624] |
Chr16:87223779..87853460 [GRCh38] Chr16:87257385..87887066 [GRCh37] Chr16:85814886..86444567 [NCBI36] Chr16:16q24.2 |
uncertain significance |
GRCh38/hg38 16q24.2(chr16:87150123-87812135)x1 |
copy number loss |
See cases [RCV000135595] |
Chr16:87150123..87812135 [GRCh38] Chr16:87183729..87845741 [GRCh37] Chr16:85741230..86403242 [NCBI36] Chr16:16q24.2 |
likely pathogenic|uncertain significance |
GRCh38/hg38 16q24.2(chr16:87223779-87440975)x1 |
copy number loss |
See cases [RCV000136537] |
Chr16:87223779..87440975 [GRCh38] Chr16:87257385..87474581 [GRCh37] Chr16:85814886..86032082 [NCBI36] Chr16:16q24.2 |
uncertain significance |
GRCh38/hg38 16q23.2-24.3(chr16:80946659-90081985)x3 |
copy number gain |
See cases [RCV000136898] |
Chr16:80946659..90081985 [GRCh38] Chr16:80980556..90148393 [GRCh37] Chr16:79538057..88675894 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3 |
copy number gain |
See cases [RCV000137495] |
Chr16:70749398..90096995 [GRCh38] Chr16:70783301..90163403 [GRCh37] Chr16:69340802..88690904 [NCBI36] Chr16:16q22.1-24.3 |
pathogenic |
GRCh38/hg38 16q23.3-24.3(chr16:83478453-89932910)x3 |
copy number gain |
See cases [RCV000137980] |
Chr16:83478453..89932910 [GRCh38] Chr16:83512058..89999318 [GRCh37] Chr16:82069559..88526819 [NCBI36] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3 |
copy number gain |
See cases [RCV000139426] |
Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:75377981-90081992)x3 |
copy number gain |
See cases [RCV000139302] |
Chr16:75377981..90081992 [GRCh38] Chr16:75411879..90148400 [GRCh37] Chr16:73969380..88675901 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.1-24.3(chr16:85552976-90096995)x3 |
copy number gain |
See cases [RCV000139658] |
Chr16:85552976..90096995 [GRCh38] Chr16:85586582..90163403 [GRCh37] Chr16:84144083..88690904 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.2(chr16:87038922-87766879)x1 |
copy number loss |
See cases [RCV000139802] |
Chr16:87038922..87766879 [GRCh38] Chr16:87072528..87800485 [GRCh37] Chr16:85630029..86357986 [NCBI36] Chr16:16q24.2 |
uncertain significance |
GRCh38/hg38 16q23.2-24.3(chr16:80717291-90096662)x3 |
copy number gain |
See cases [RCV000141128] |
Chr16:80717291..90096662 [GRCh38] Chr16:80751188..90163070 [GRCh37] Chr16:79308689..88690571 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
GRCh38/hg38 16q23.1-24.3(chr16:76336203-90088654)x3 |
copy number gain |
See cases [RCV000141700] |
Chr16:76336203..90088654 [GRCh38] Chr16:76370100..90155062 [GRCh37] Chr16:74927601..88682563 [NCBI36] Chr16:16q23.1-24.3 |
pathogenic |
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 |
copy number gain |
See cases [RCV000142578] |
Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3 |
pathogenic|likely pathogenic |
GRCh38/hg38 16q23.2-24.3(chr16:80067315-90057871)x3 |
copy number gain |
See cases [RCV000142698] |
Chr16:80067315..90057871 [GRCh38] Chr16:80101212..90124279 [GRCh37] Chr16:78658713..88651780 [NCBI36] Chr16:16q23.2-24.3 |
pathogenic |
GRCh38/hg38 16q24.2(chr16:87382052-87766879)x1 |
copy number loss |
See cases [RCV000142722] |
Chr16:87382052..87766879 [GRCh38] Chr16:87415658..87800485 [GRCh37] Chr16:85973159..86357986 [NCBI36] Chr16:16q24.2 |
likely pathogenic|uncertain significance |
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 |
copy number gain |
See cases [RCV000143425] |
Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3 |
pathogenic |
GRCh38/hg38 16q24.1-24.3(chr16:86950106-89335814)x1 |
copy number loss |
See cases [RCV000143624] |
Chr16:86950106..89335814 [GRCh38] Chr16:86983712..89402222 [GRCh37] Chr16:85541213..87929723 [NCBI36] Chr16:16q24.1-24.3 |
pathogenic |
GRCh38/hg38 16q24.2(chr16:87267492-87780225)x1 |
copy number loss |
See cases [RCV000143657] |
Chr16:87267492..87780225 [GRCh38] Chr16:87301098..87813831 [GRCh37] Chr16:85858599..86371332 [NCBI36] Chr16:16q24.2 |
likely pathogenic|uncertain significance |
GRCh37/hg19 16q23.1-24.3(chr16:74872514-90274440)x3 |
copy number gain |
See cases [RCV000240108] |
Chr16:74872514..90274440 [GRCh37] Chr16:16q23.1-24.3 |
pathogenic |
t(5;16)(p15.31;q23.1) |
translocation |
not provided [RCV000203391] |
Chr5:1..8180513 [GRCh37] Chr16:76935310..90354753 [GRCh37] Chr5:5p15.33-15.31 Chr16:16q23.1-24.3 |
likely pathogenic |
Single allele |
deletion |
16q24.3 microdeletion syndrome [RCV000258230] |
Chr16:87183661..89520803 [GRCh37] Chr16:16q24.2-24.3 |
pathogenic |
Single allele |
deletion |
16q24.3 microdeletion syndrome [RCV000258380] |
Chr16:87340135..89335428 [GRCh37] Chr16:16q24.2-24.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207138] |
Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3 |
uncertain significance |
GRCh37/hg19 16q22.2-24.3(chr16:72107834-90142285)x1 |
copy number loss |
Breast ductal adenocarcinoma [RCV000207182] |
Chr16:72107834..90142285 [GRCh37] Chr16:16q22.2-24.3 |
uncertain significance |
Single allele |
complex |
Breast ductal adenocarcinoma [RCV000207314] |
Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3 |
uncertain significance |
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 |
copy number gain |
See cases [RCV000446110] |
Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
GRCh37/hg19 16q24.2(chr16:87409427-87446304)x1 |
copy number loss |
See cases [RCV000446674] |
Chr16:87409427..87446304 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 |
copy number gain |
See cases [RCV000446684] |
Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q24.1-24.2(chr16:85491404-87883528)x1 |
copy number loss |
See cases [RCV000510624] |
Chr16:85491404..87883528 [GRCh37] Chr16:16q24.1-24.2 |
pathogenic |
GRCh37/hg19 16q24.2-24.3(chr16:87219866-89561087)x1 |
copy number loss |
not provided [RCV000509325] |
Chr16:87219866..89561087 [GRCh37] Chr16:16q24.2-24.3 |
not provided |
GRCh37/hg19 16q24.2(chr16:87428533-87486111)x1 |
copy number loss |
See cases [RCV000511653] |
Chr16:87428533..87486111 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q24.2(chr16:87333237-87457042)x1 |
copy number loss |
See cases [RCV000511682] |
Chr16:87333237..87457042 [GRCh37] Chr16:16q24.2 |
likely pathogenic |
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 |
copy number gain |
See cases [RCV000511622] |
Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3 |
uncertain significance |
GRCh37/hg19 16q24.1-24.3(chr16:84937273-89836905)x4 |
copy number gain |
See cases [RCV000511606] |
Chr16:84937273..89836905 [GRCh37] Chr16:16q24.1-24.3 |
likely pathogenic |
NM_015144.3(ZCCHC14):c.2279C>T (p.Thr760Met) |
single nucleotide variant |
not specified [RCV004294866] |
Chr16:87412442 [GRCh38] Chr16:87446048 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1235G>A (p.Arg412Gln) |
single nucleotide variant |
not specified [RCV004301385] |
Chr16:87417608 [GRCh38] Chr16:87451214 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1210A>G (p.Ser404Gly) |
single nucleotide variant |
not specified [RCV004318097] |
Chr16:87417633 [GRCh38] Chr16:87451239 [GRCh37] Chr16:16q24.2 |
likely benign |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 |
copy number gain |
See cases [RCV000512138] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_015144.3(ZCCHC14):c.1043C>A (p.Pro348Gln) |
single nucleotide variant |
not specified [RCV004298585] |
Chr16:87419785 [GRCh38] Chr16:87453391 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] |
Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 |
copy number gain |
See cases [RCV000512511] |
Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3 |
pathogenic |
GRCh37/hg19 16q24.1-24.3(chr16:85838574-90155062)x3 |
copy number gain |
See cases [RCV000512440] |
Chr16:85838574..90155062 [GRCh37] Chr16:16q24.1-24.3 |
pathogenic |
GRCh37/hg19 16q23.3-24.3(chr16:83001540-90155062)x3 |
copy number gain |
See cases [RCV000512468] |
Chr16:83001540..90155062 [GRCh37] Chr16:16q23.3-24.3 |
likely pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) |
copy number gain |
See cases [RCV000511296] |
Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 |
copy number loss |
Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] |
Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3 |
drug response |
Single allele |
deletion |
not provided [RCV000677910] |
Chr16:86890893..89398630 [GRCh37] Chr16:16q24.1-24.3 |
pathogenic |
GRCh37/hg19 16q24.2(chr16:87149360-87848903)x1 |
copy number loss |
not provided [RCV000683854] |
Chr16:87149360..87848903 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q24.2(chr16:87307128-87551687)x1 |
copy number loss |
not provided [RCV000683855] |
Chr16:87307128..87551687 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q23.2-24.3(chr16:79400436-90155062)x3 |
copy number gain |
not provided [RCV000683845] |
Chr16:79400436..90155062 [GRCh37] Chr16:16q23.2-24.3 |
pathogenic |
GRCh37/hg19 16q22.2-24.3(chr16:72515938-90155062)x3 |
copy number gain |
not provided [RCV000683831] |
Chr16:72515938..90155062 [GRCh37] Chr16:16q22.2-24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 |
copy number gain |
not provided [RCV000738918] |
Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 |
copy number gain |
not provided [RCV000738915] |
Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
GRCh37/hg19 16q24.2(chr16:87153890-87518829)x1 |
copy number loss |
not provided [RCV000751802] |
Chr16:87153890..87518829 [GRCh37] Chr16:16q24.2 |
benign |
NM_015144.3(ZCCHC14):c.3144C>T (p.Cys1048=) |
single nucleotide variant |
not provided [RCV000949392] |
Chr16:87411577 [GRCh38] Chr16:87445183 [GRCh37] Chr16:16q24.2 |
benign |
GRCh37/hg19 16q23.3-24.3(chr16:82761333-90055381) |
copy number gain |
not provided [RCV000767619] |
Chr16:82761333..90055381 [GRCh37] Chr16:16q23.3-24.3 |
pathogenic |
NM_015144.3(ZCCHC14):c.883C>A (p.Pro295Thr) |
single nucleotide variant |
not provided [RCV000965335] |
Chr16:87420674 [GRCh38] Chr16:87454280 [GRCh37] Chr16:16q24.2 |
benign |
GRCh37/hg19 16q24.2(chr16:87513448-87930837)x1 |
copy number loss |
not provided [RCV000848541] |
Chr16:87513448..87930837 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q24.2(chr16:87409427-87603006)x1 |
copy number loss |
not provided [RCV001006837] |
Chr16:87409427..87603006 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2576C>T (p.Thr859Met) |
single nucleotide variant |
not specified [RCV004321420] |
Chr16:87412145 [GRCh38] Chr16:87445751 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2297T>A (p.Val766Asp) |
single nucleotide variant |
not specified [RCV004313528] |
Chr16:87412424 [GRCh38] Chr16:87446030 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2655C>A (p.Gly885=) |
single nucleotide variant |
not provided [RCV000891992] |
Chr16:87412066 [GRCh38] Chr16:87445672 [GRCh37] Chr16:16q24.2 |
benign |
NM_015144.3(ZCCHC14):c.1166C>T (p.Pro389Leu) |
single nucleotide variant |
not provided [RCV000960968] |
Chr16:87417677 [GRCh38] Chr16:87451283 [GRCh37] Chr16:16q24.2 |
benign |
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641) |
copy number loss |
Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001004081] |
Chr16:84872102..87678641 [GRCh37] Chr16:16q24.1-24.2 |
pathogenic |
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 |
copy number gain |
not provided [RCV001249359] |
Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3 |
not provided |
NM_015144.3(ZCCHC14):c.899C>T (p.Pro300Leu) |
single nucleotide variant |
not specified [RCV004686152] |
Chr16:87420658 [GRCh38] Chr16:87454264 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1508C>T (p.Ser503Leu) |
single nucleotide variant |
not specified [RCV004686153] |
Chr16:87414509 [GRCh38] Chr16:87448115 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2725C>T (p.Pro909Ser) |
single nucleotide variant |
not specified [RCV004686156] |
Chr16:87411996 [GRCh38] Chr16:87445602 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.3022G>A (p.Ala1008Thr) |
single nucleotide variant |
not specified [RCV004686160] |
Chr16:87411699 [GRCh38] Chr16:87445305 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.3101G>A (p.Gly1034Asp) |
single nucleotide variant |
not specified [RCV004686162] |
Chr16:87411620 [GRCh38] Chr16:87445226 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q23.2-24.3(chr16:80386595-90163348)x3 |
copy number gain |
not provided [RCV001795551] |
Chr16:80386595..90163348 [GRCh37] Chr16:16q23.2-24.3 |
pathogenic |
NC_000016.9:g.86243180_87703229del |
deletion |
Alveolar capillary dysplasia with pulmonary venous misalignment [RCV001199829] |
Chr16:86243180..87703229 [GRCh37] Chr16:16q24.1-24.2 |
pathogenic |
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 |
copy number gain |
not provided [RCV002221458] |
Chr16:46503968..90155062 [GRCh37] Chr16:16q11.2-24.3 |
pathogenic |
NM_015144.3(ZCCHC14):c.2207C>G (p.Ala736Gly) |
single nucleotide variant |
not specified [RCV004291814] |
Chr16:87412514 [GRCh38] Chr16:87446120 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3 |
copy number gain |
Syndromic anorectal malformation [RCV002286607] |
Chr16:71641395..90161959 [GRCh37] Chr16:16q22.2-24.3 |
likely pathogenic |
NM_015144.3(ZCCHC14):c.2312G>T (p.Arg771Leu) |
single nucleotide variant |
not specified [RCV004328454] |
Chr16:87412409 [GRCh38] Chr16:87446015 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2314C>T (p.Pro772Ser) |
single nucleotide variant |
not specified [RCV004328455] |
Chr16:87412407 [GRCh38] Chr16:87446013 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1133C>T (p.Ser378Leu) |
single nucleotide variant |
not specified [RCV004218541] |
Chr16:87417710 [GRCh38] Chr16:87451316 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1805T>A (p.Phe602Tyr) |
single nucleotide variant |
not specified [RCV004110441] |
Chr16:87412916 [GRCh38] Chr16:87446522 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2917G>A (p.Val973Ile) |
single nucleotide variant |
not specified [RCV004143425] |
Chr16:87411804 [GRCh38] Chr16:87445410 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2795G>A (p.Gly932Asp) |
single nucleotide variant |
not specified [RCV004139875] |
Chr16:87411926 [GRCh38] Chr16:87445532 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2443A>G (p.Thr815Ala) |
single nucleotide variant |
not specified [RCV004161748] |
Chr16:87412278 [GRCh38] Chr16:87445884 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1701G>T (p.Gln567His) |
single nucleotide variant |
not specified [RCV004126678] |
Chr16:87413098 [GRCh38] Chr16:87446704 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2204A>G (p.His735Arg) |
single nucleotide variant |
not specified [RCV004224295] |
Chr16:87412517 [GRCh38] Chr16:87446123 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.523G>T (p.Ala175Ser) |
single nucleotide variant |
not specified [RCV004121247] |
Chr16:87491716 [GRCh38] Chr16:87525322 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2312G>A (p.Arg771His) |
single nucleotide variant |
not specified [RCV004220099] |
Chr16:87412409 [GRCh38] Chr16:87446015 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2525A>G (p.Asn842Ser) |
single nucleotide variant |
not specified [RCV004218787] |
Chr16:87412196 [GRCh38] Chr16:87445802 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1948G>A (p.Val650Met) |
single nucleotide variant |
not specified [RCV004193084] |
Chr16:87412773 [GRCh38] Chr16:87446379 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.3017C>T (p.Thr1006Met) |
single nucleotide variant |
not specified [RCV004098763] |
Chr16:87411704 [GRCh38] Chr16:87445310 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.698G>A (p.Ser233Asn) |
single nucleotide variant |
not specified [RCV004132524] |
Chr16:87433198 [GRCh38] Chr16:87466804 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1075G>C (p.Gly359Arg) |
single nucleotide variant |
not specified [RCV004119395] |
Chr16:87418872 [GRCh38] Chr16:87452478 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2308G>A (p.Ala770Thr) |
single nucleotide variant |
not specified [RCV004227387] |
Chr16:87412413 [GRCh38] Chr16:87446019 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.3025G>A (p.Val1009Met) |
single nucleotide variant |
not specified [RCV004154237] |
Chr16:87411696 [GRCh38] Chr16:87445302 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2575A>T (p.Thr859Ser) |
single nucleotide variant |
not specified [RCV004119532] |
Chr16:87412146 [GRCh38] Chr16:87445752 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.625G>T (p.Ala209Ser) |
single nucleotide variant |
not specified [RCV004148585] |
Chr16:87460077 [GRCh38] Chr16:87493683 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2504G>T (p.Gly835Val) |
single nucleotide variant |
not specified [RCV004120782] |
Chr16:87412217 [GRCh38] Chr16:87445823 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2812G>T (p.Gly938Cys) |
single nucleotide variant |
not specified [RCV004145991] |
Chr16:87411909 [GRCh38] Chr16:87445515 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1219T>C (p.Ser407Pro) |
single nucleotide variant |
not specified [RCV004230669] |
Chr16:87417624 [GRCh38] Chr16:87451230 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.3085G>A (p.Val1029Met) |
single nucleotide variant |
not specified [RCV004145992] |
Chr16:87411636 [GRCh38] Chr16:87445242 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2200G>A (p.Val734Met) |
single nucleotide variant |
not specified [RCV004227968] |
Chr16:87412521 [GRCh38] Chr16:87446127 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.3074C>T (p.Thr1025Ile) |
single nucleotide variant |
not specified [RCV004144720] |
Chr16:87411647 [GRCh38] Chr16:87445253 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1213G>A (p.Ala405Thr) |
single nucleotide variant |
not specified [RCV004109272] |
Chr16:87417630 [GRCh38] Chr16:87451236 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1277G>C (p.Ser426Thr) |
single nucleotide variant |
not specified [RCV004175423] |
Chr16:87417566 [GRCh38] Chr16:87451172 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.3080G>T (p.Gly1027Val) |
single nucleotide variant |
not specified [RCV004160898] |
Chr16:87411641 [GRCh38] Chr16:87445247 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2528C>G (p.Thr843Ser) |
single nucleotide variant |
not specified [RCV004196519] |
Chr16:87412193 [GRCh38] Chr16:87445799 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2350G>A (p.Ala784Thr) |
single nucleotide variant |
not specified [RCV004171959] |
Chr16:87412371 [GRCh38] Chr16:87445977 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1801C>T (p.His601Tyr) |
single nucleotide variant |
not specified [RCV004167662] |
Chr16:87412920 [GRCh38] Chr16:87446526 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2158T>A (p.Ser720Thr) |
single nucleotide variant |
not specified [RCV004141138] |
Chr16:87412563 [GRCh38] Chr16:87446169 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2270C>T (p.Thr757Met) |
single nucleotide variant |
not specified [RCV004260249] |
Chr16:87412451 [GRCh38] Chr16:87446057 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2687C>T (p.Ser896Leu) |
single nucleotide variant |
not specified [RCV004286912] |
Chr16:87412034 [GRCh38] Chr16:87445640 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q24.1-24.2(chr16:86544176-88110267)x1 |
copy number loss |
not provided [RCV003222894] |
Chr16:86544176..88110267 [GRCh37] Chr16:16q24.1-24.2 |
pathogenic |
NM_015144.3(ZCCHC14):c.619G>C (p.Glu207Gln) |
single nucleotide variant |
not specified [RCV004267813] |
Chr16:87460083 [GRCh38] Chr16:87493689 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2618C>T (p.Ser873Phe) |
single nucleotide variant |
not specified [RCV004272082] |
Chr16:87412103 [GRCh38] Chr16:87445709 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2989C>T (p.Pro997Ser) |
single nucleotide variant |
not specified [RCV004316349] |
Chr16:87411732 [GRCh38] Chr16:87445338 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1877G>T (p.Gly626Val) |
single nucleotide variant |
not specified [RCV004309149] |
Chr16:87412844 [GRCh38] Chr16:87446450 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2756C>T (p.Pro919Leu) |
single nucleotide variant |
not specified [RCV004335309] |
Chr16:87411965 [GRCh38] Chr16:87445571 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1572C>T (p.Pro524=) |
single nucleotide variant |
not provided [RCV003419481] |
Chr16:87414445 [GRCh38] Chr16:87448051 [GRCh37] Chr16:16q24.2 |
likely benign |
NM_015144.3(ZCCHC14):c.645T>A (p.His215Gln) |
single nucleotide variant |
not specified [RCV004365307] |
Chr16:87460057 [GRCh38] Chr16:87493663 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2213C>T (p.Thr738Met) |
single nucleotide variant |
not specified [RCV004339876] |
Chr16:87412508 [GRCh38] Chr16:87446114 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2809A>G (p.Ser937Gly) |
single nucleotide variant |
not specified [RCV004357695] |
Chr16:87411912 [GRCh38] Chr16:87445518 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q24.1-24.2(chr16:84555718-87910245)x1 |
copy number loss |
not provided [RCV003483302] |
Chr16:84555718..87910245 [GRCh37] Chr16:16q24.1-24.2 |
pathogenic |
NM_015144.3(ZCCHC14):c.2910C>T (p.Ser970=) |
single nucleotide variant |
not provided [RCV003426884] |
Chr16:87411811 [GRCh38] Chr16:87445417 [GRCh37] Chr16:16q24.2 |
likely benign |
Single allele |
deletion |
KBG syndrome [RCV003388953] |
Chr16:87169884..89487487 [GRCh38] Chr16:16q24.2-24.3 |
pathogenic |
GRCh37/hg19 16q24.2(chr16:87213180-87474058)x1 |
copy number loss |
not specified [RCV003987182] |
Chr16:87213180..87474058 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3 |
copy number gain |
not provided [RCV004577473] |
Chr16:82865402..90163542 [GRCh37] Chr16:16q23.3-24.3 |
pathogenic |
NM_015144.3(ZCCHC14):c.1493G>A (p.Arg498Gln) |
single nucleotide variant |
not specified [RCV004483408] |
Chr16:87414524 [GRCh38] Chr16:87448130 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.532C>T (p.Pro178Ser) |
single nucleotide variant |
not specified [RCV004483409] |
Chr16:87491707 [GRCh38] Chr16:87525313 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1670C>A (p.Ser557Tyr) |
single nucleotide variant |
not specified [RCV004483410] |
Chr16:87413129 [GRCh38] Chr16:87446735 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1934G>A (p.Arg645His) |
single nucleotide variant |
not specified [RCV004483411] |
Chr16:87412787 [GRCh38] Chr16:87446393 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1942A>T (p.Asn648Tyr) |
single nucleotide variant |
not specified [RCV004483412] |
Chr16:87412779 [GRCh38] Chr16:87446385 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2083G>A (p.Ala695Thr) |
single nucleotide variant |
not specified [RCV004483413] |
Chr16:87412638 [GRCh38] Chr16:87446244 [GRCh37] Chr16:16q24.2 |
likely benign |
NM_015144.3(ZCCHC14):c.2105C>T (p.Ala702Val) |
single nucleotide variant |
not specified [RCV004483414] |
Chr16:87412616 [GRCh38] Chr16:87446222 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2110G>A (p.Ala704Thr) |
single nucleotide variant |
not specified [RCV004483415] |
Chr16:87412611 [GRCh38] Chr16:87446217 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.583A>G (p.Thr195Ala) |
single nucleotide variant |
not specified [RCV004483417] |
Chr16:87460119 [GRCh38] Chr16:87493725 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.635C>G (p.Thr212Arg) |
single nucleotide variant |
not specified [RCV004483419] |
Chr16:87460067 [GRCh38] Chr16:87493673 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2681C>A (p.Pro894His) |
single nucleotide variant |
not specified [RCV004483420] |
Chr16:87412040 [GRCh38] Chr16:87445646 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2834A>G (p.Asn945Ser) |
single nucleotide variant |
not specified [RCV004483421] |
Chr16:87411887 [GRCh38] Chr16:87445493 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2935G>A (p.Gly979Ser) |
single nucleotide variant |
not specified [RCV004483422] |
Chr16:87411786 [GRCh38] Chr16:87445392 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2956G>C (p.Val986Leu) |
single nucleotide variant |
not specified [RCV004483423] |
Chr16:87411765 [GRCh38] Chr16:87445371 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.684A>T (p.Lys228Asn) |
single nucleotide variant |
not specified [RCV004483424] |
Chr16:87460018 [GRCh38] Chr16:87493624 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.3202C>T (p.Pro1068Ser) |
single nucleotide variant |
not specified [RCV004483425] |
Chr16:87411519 [GRCh38] Chr16:87445125 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1180G>A (p.Ala394Thr) |
single nucleotide variant |
not specified [RCV004483426] |
Chr16:87417663 [GRCh38] Chr16:87451269 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.586G>A (p.Glu196Lys) |
single nucleotide variant |
not specified [RCV004686154] |
Chr16:87460116 [GRCh38] Chr16:87493722 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2938G>A (p.Gly980Ser) |
single nucleotide variant |
not specified [RCV004686151] |
Chr16:87411783 [GRCh38] Chr16:87445389 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2645G>A (p.Ser882Asn) |
single nucleotide variant |
not specified [RCV004686158] |
Chr16:87412076 [GRCh38] Chr16:87445682 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1691T>C (p.Met564Thr) |
single nucleotide variant |
not specified [RCV004686159] |
Chr16:87413108 [GRCh38] Chr16:87446714 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1057C>G (p.Pro353Ala) |
single nucleotide variant |
not specified [RCV004686155] |
Chr16:87418890 [GRCh38] Chr16:87452496 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2267G>A (p.Ser756Asn) |
single nucleotide variant |
not specified [RCV004686157] |
Chr16:87412454 [GRCh38] Chr16:87446060 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.761C>G (p.Ser254Cys) |
single nucleotide variant |
not specified [RCV004885167] |
Chr16:87433135 [GRCh38] Chr16:87466741 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1498C>G (p.Leu500Val) |
single nucleotide variant |
not specified [RCV004885162] |
Chr16:87414519 [GRCh38] Chr16:87448125 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2911G>A (p.Gly971Ser) |
single nucleotide variant |
not specified [RCV004885163] |
Chr16:87411810 [GRCh38] Chr16:87445416 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1667A>G (p.Tyr556Cys) |
single nucleotide variant |
not specified [RCV004885170] |
Chr16:87413132 [GRCh38] Chr16:87446738 [GRCh37] Chr16:16q24.2 |
likely benign |
NM_015144.3(ZCCHC14):c.2777C>T (p.Thr926Met) |
single nucleotide variant |
not specified [RCV004885164] |
Chr16:87411944 [GRCh38] Chr16:87445550 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1907G>C (p.Ser636Thr) |
single nucleotide variant |
not specified [RCV004885165] |
Chr16:87412814 [GRCh38] Chr16:87446420 [GRCh37] Chr16:16q24.2 |
likely benign |
NM_015144.3(ZCCHC14):c.688A>G (p.Ser230Gly) |
single nucleotide variant |
not specified [RCV004885169] |
Chr16:87460014 [GRCh38] Chr16:87493620 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.1658C>A (p.Ser553Tyr) |
single nucleotide variant |
not specified [RCV004885171] |
Chr16:87413141 [GRCh38] Chr16:87446747 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2866G>A (p.Val956Met) |
single nucleotide variant |
not specified [RCV004885172] |
Chr16:87411855 [GRCh38] Chr16:87445461 [GRCh37] Chr16:16q24.2 |
likely benign |
NM_015144.3(ZCCHC14):c.1123A>G (p.Ile375Val) |
single nucleotide variant |
not specified [RCV004885173] |
Chr16:87417720 [GRCh38] Chr16:87451326 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.529G>A (p.Gly177Arg) |
single nucleotide variant |
not specified [RCV004885166] |
Chr16:87491710 [GRCh38] Chr16:87525316 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.3025G>C (p.Val1009Leu) |
single nucleotide variant |
not specified [RCV004885174] |
Chr16:87411696 [GRCh38] Chr16:87445302 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2092G>A (p.Asp698Asn) |
single nucleotide variant |
not specified [RCV004885168] |
Chr16:87412629 [GRCh38] Chr16:87446235 [GRCh37] Chr16:16q24.2 |
uncertain significance |
GRCh37/hg19 16q24.2(chr16:87502161-87913238)x1 |
copy number loss |
not provided [RCV004819887] |
Chr16:87502161..87913238 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2513G>A (p.Cys838Tyr) |
single nucleotide variant |
not specified [RCV004893160] |
Chr16:87412208 [GRCh38] Chr16:87445814 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2095G>A (p.Val699Met) |
single nucleotide variant |
not specified [RCV004893156] |
Chr16:87412626 [GRCh38] Chr16:87446232 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2428C>T (p.Arg810Trp) |
single nucleotide variant |
not specified [RCV004893157] |
Chr16:87412293 [GRCh38] Chr16:87445899 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2738C>T (p.Pro913Leu) |
single nucleotide variant |
not specified [RCV004893158] |
Chr16:87411983 [GRCh38] Chr16:87445589 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2054G>C (p.Ser685Thr) |
single nucleotide variant |
not specified [RCV004893161] |
Chr16:87412667 [GRCh38] Chr16:87446273 [GRCh37] Chr16:16q24.2 |
uncertain significance |
NM_015144.3(ZCCHC14):c.2077G>C (p.Gly693Arg) |
single nucleotide variant |
not specified [RCV004893159] |
Chr16:87412644 [GRCh38] Chr16:87446250 [GRCh37] Chr16:16q24.2 |
uncertain significance |