GRCh38/hg38 16p13.11-12.1(chr16:14954894-28306843)x3 |
copy number gain |
See cases [RCV000051828] |
Chr16:14954894..28306843 [GRCh38] Chr16:15048751..28318164 [GRCh37] Chr16:14956252..28225665 [NCBI36] Chr16:16p13.11-12.1 |
pathogenic |
GRCh38/hg38 16p12.2-11.2(chr16:21463739-29249579)x3 |
copy number gain |
See cases [RCV000051829] |
Chr16:21463739..29249579 [GRCh38] Chr16:21475060..29260900 [GRCh37] Chr16:21382561..29168401 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
NM_020718.3(USP31):c.3536C>T (p.Pro1179Leu) |
single nucleotide variant |
Malignant melanoma [RCV000063002] |
Chr16:23068569 [GRCh38] Chr16:23079890 [GRCh37] Chr16:22987391 [NCBI36] Chr16:16p12.2 |
not provided |
GRCh38/hg38 16p12.2-11.2(chr16:21602183-29314373)x3 |
copy number gain |
See cases [RCV000051842] |
Chr16:21602183..29314373 [GRCh38] Chr16:21613504..29325694 [GRCh37] Chr16:21521005..29233195 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
GRCh38/hg38 16p12.2-11.2(chr16:23047969-30632245)x3 |
copy number gain |
See cases [RCV000052401] |
Chr16:23047969..30632245 [GRCh38] Chr16:23059290..30643566 [GRCh37] Chr16:22966791..30551067 [NCBI36] Chr16:16p12.2-11.2 |
pathogenic |
GRCh38/hg38 16p12.2-12.1(chr16:21600992-28323344)x1 |
copy number loss |
See cases [RCV000052519] |
Chr16:21600992..28323344 [GRCh38] Chr16:21612313..28334665 [GRCh37] Chr16:21519814..28242166 [NCBI36] Chr16:16p12.2-12.1 |
pathogenic |
GRCh38/hg38 16p12.2(chr16:22755932-23546240)x3 |
copy number gain |
See cases [RCV000053859] |
Chr16:22755932..23546240 [GRCh38] Chr16:22767253..23557561 [GRCh37] Chr16:22674754..23465062 [NCBI36] Chr16:16p12.2 |
uncertain significance |
NM_020718.3(USP31):c.2523C>T (p.Val841=) |
single nucleotide variant |
Malignant melanoma [RCV000071039] |
Chr16:23069582 [GRCh38] Chr16:23080903 [GRCh37] Chr16:22988404 [NCBI36] Chr16:16p12.2 |
not provided |
NM_020718.3(USP31):c.1302T>C (p.Pro434=) |
single nucleotide variant |
Malignant melanoma [RCV000071040] |
Chr16:23090737 [GRCh38] Chr16:23102058 [GRCh37] Chr16:23009559 [NCBI36] Chr16:16p12.2 |
not provided |
NM_020718.3(USP31):c.937C>T (p.Pro313Ser) |
single nucleotide variant |
Malignant melanoma [RCV000071041] |
Chr16:23106229 [GRCh38] Chr16:23117550 [GRCh37] Chr16:23025051 [NCBI36] Chr16:16p12.2 |
not provided |
GRCh38/hg38 16p12.2-11.2(chr16:22634385-29227323)x3 |
copy number gain |
See cases [RCV000135594] |
Chr16:22634385..29227323 [GRCh38] Chr16:22645706..29238644 [GRCh37] Chr16:22553207..29146145 [NCBI36] Chr16:16p12.2-11.2 |
likely pathogenic |
GRCh38/hg38 16p13.3-11.2(chr16:4644892-29170820)x3 |
copy number gain |
See cases [RCV000133809] |
Chr16:4644892..29170820 [GRCh38] Chr16:4694893..29182141 [GRCh37] Chr16:4634894..29089642 [NCBI36] Chr16:16p13.3-11.2 |
pathogenic |
GRCh38/hg38 16p12.2-11.2(chr16:21350622-29202837)x3 |
copy number gain |
See cases [RCV000140235] |
Chr16:21350622..29202837 [GRCh38] Chr16:21361943..29214158 [GRCh37] Chr16:21269444..29121659 [NCBI36] Chr16:16p12.2-11.2 |
likely pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 |
copy number gain |
See cases [RCV000203445] |
Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p12.3-11.2(chr16:19590412-29814175)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207226] |
Chr16:19590412..29814175 [GRCh37] Chr16:16p12.3-11.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 |
copy number gain |
Breast ductal adenocarcinoma [RCV000207053] |
Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2 |
uncertain significance |
GRCh37/hg19 16p12.3-11.2(chr16:19424115-30142220)x3 |
copy number gain |
See cases [RCV000449403] |
Chr16:19424115..30142220 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
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 16p12.2-11.2(chr16:22718350-28858721)x4 |
copy number gain |
See cases [RCV000511587] |
Chr16:22718350..28858721 [GRCh37] Chr16:16p12.2-11.2 |
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 |
maternal UPD(16p) |
complex |
Hemimegalencephaly [RCV000494707] |
Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
NM_020718.4(USP31):c.3614G>A (p.Arg1205His) |
single nucleotide variant |
not specified [RCV004294285] |
Chr16:23068491 [GRCh38] Chr16:23079812 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.538G>T (p.Ala180Ser) |
single nucleotide variant |
not specified [RCV004306263] |
Chr16:23148733 [GRCh38] Chr16:23160054 [GRCh37] Chr16:16p12.2 |
uncertain significance |
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 |
GRCh37/hg19 16p12.2-11.2(chr16:21596299-30399167)x1 |
copy number loss |
See cases [RCV000511271] |
Chr16:21596299..30399167 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_020718.4(USP31):c.1465C>T (p.Leu489Phe) |
single nucleotide variant |
not specified [RCV004314776] |
Chr16:23087786 [GRCh38] Chr16:23099107 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1514C>T (p.Thr505Met) |
single nucleotide variant |
not specified [RCV004331006] |
Chr16:23087737 [GRCh38] Chr16:23099058 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.484C>G (p.Arg162Gly) |
single nucleotide variant |
not specified [RCV004318772] |
Chr16:23148787 [GRCh38] Chr16:23160108 [GRCh37] Chr16:16p12.2 |
uncertain significance |
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 |
NM_020718.4(USP31):c.290G>T (p.Gly97Val) |
single nucleotide variant |
not specified [RCV004309902] |
Chr16:23148981 [GRCh38] Chr16:23160302 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.610C>T (p.Pro204Ser) |
single nucleotide variant |
not specified [RCV004288264] |
Chr16:23148661 [GRCh38] Chr16:23159982 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29351826)x3 |
copy number gain |
See cases [RCV000512478] |
Chr16:21379628..29351826 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
GRCh37/hg19 16p12.2-11.2(chr16:21475039-29043958)x1 |
copy number loss |
Chromosome 16p12.2-p11.2 deletion syndrome [RCV003315282] |
Chr16:21475039..29043958 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_020718.4(USP31):c.1546C>A (p.Arg516Ser) |
single nucleotide variant |
not specified [RCV004292014] |
Chr16:23087168 [GRCh38] Chr16:23098489 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 |
copy number gain |
See cases [RCV001263169] |
Chr16:2959279..30190593 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic|likely pathogenic |
NM_020718.4(USP31):c.3938C>T (p.Ser1313Phe) |
single nucleotide variant |
not specified [RCV004186052] |
Chr16:23068167 [GRCh38] Chr16:23079488 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2888T>C (p.Val963Ala) |
single nucleotide variant |
not specified [RCV004182167] |
Chr16:23069217 [GRCh38] Chr16:23080538 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3451G>A (p.Asp1151Asn) |
single nucleotide variant |
not specified [RCV004164426] |
Chr16:23068654 [GRCh38] Chr16:23079975 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.643T>G (p.Ser215Ala) |
single nucleotide variant |
not specified [RCV004127518] |
Chr16:23108174 [GRCh38] Chr16:23119495 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.287C>G (p.Pro96Arg) |
single nucleotide variant |
not specified [RCV004121023] |
Chr16:23148984 [GRCh38] Chr16:23160305 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1977G>T (p.Gln659His) |
single nucleotide variant |
not specified [RCV004186422] |
Chr16:23080145 [GRCh38] Chr16:23091466 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2200G>A (p.Gly734Ser) |
single nucleotide variant |
not specified [RCV004123031] |
Chr16:23073857 [GRCh38] Chr16:23085178 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2072C>G (p.Pro691Arg) |
single nucleotide variant |
not specified [RCV004079191] |
Chr16:23080050 [GRCh38] Chr16:23091371 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1262A>T (p.His421Leu) |
single nucleotide variant |
not specified [RCV004278868] |
Chr16:23090777 [GRCh38] Chr16:23102098 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.16G>T (p.Ala6Ser) |
single nucleotide variant |
not specified [RCV004280819] |
Chr16:23149255 [GRCh38] Chr16:23160576 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3971C>T (p.Pro1324Leu) |
single nucleotide variant |
not specified [RCV004260166] |
Chr16:23068134 [GRCh38] Chr16:23079455 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.383C>T (p.Ala128Val) |
single nucleotide variant |
not specified [RCV004484770] |
Chr16:23148888 [GRCh38] Chr16:23160209 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2861A>T (p.Asp954Val) |
single nucleotide variant |
not specified [RCV004685523] |
Chr16:23069244 [GRCh38] Chr16:23080565 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3625A>G (p.Thr1209Ala) |
single nucleotide variant |
not specified [RCV004879297] |
Chr16:23068480 [GRCh38] Chr16:23079801 [GRCh37] Chr16:16p12.2 |
likely benign |
GRCh37/hg19 16p12.3-11.2(chr16:18238275-30177240)x3 |
copy number gain |
See cases [RCV000512428] |
Chr16:18238275..30177240 [GRCh37] Chr16:16p12.3-11.2 |
pathogenic |
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 |
copy number loss |
not provided [RCV000683786] |
Chr16:21379628..29379768 [GRCh37] Chr16:16p12.2-11.2 |
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 16p12.2(chr16:23143876-23160805)x1 |
copy number loss |
not provided [RCV000739101] |
Chr16:23143876..23160805 [GRCh37] Chr16:16p12.2 |
benign |
GRCh37/hg19 16p12.2(chr16:23159965-23160805)x1 |
copy number loss |
not provided [RCV000739102] |
Chr16:23159965..23160805 [GRCh37] Chr16:16p12.2 |
benign |
GRCh37/hg19 16p12.2(chr16:23159965-23171457)x1 |
copy number loss |
not provided [RCV000739103] |
Chr16:23159965..23171457 [GRCh37] Chr16:16p12.2 |
benign |
GRCh37/hg19 16p12.2(chr16:23160000-23160805)x1 |
copy number loss |
not provided [RCV000739104] |
Chr16:23160000..23160805 [GRCh37] Chr16:16p12.2 |
benign |
GRCh37/hg19 16p12.2(chr16:23160016-23160805)x1 |
copy number loss |
not provided [RCV000739105] |
Chr16:23160016..23160805 [GRCh37] Chr16:16p12.2 |
benign |
NC_000016.9:g.21530207_29332245del |
deletion |
not provided [RCV001030428] |
Chr16:21530207..29332245 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_020718.4(USP31):c.2312G>C (p.Trp771Ser) |
single nucleotide variant |
not specified [RCV004285905] |
Chr16:23073745 [GRCh38] Chr16:23085066 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3302C>G (p.Pro1101Arg) |
single nucleotide variant |
not specified [RCV004318635] |
Chr16:23068803 [GRCh38] Chr16:23080124 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p12.2-11.2(chr16:21312200-29646379)x3 |
copy number gain |
not provided [RCV001249228] |
Chr16:21312200..29646379 [GRCh37] Chr16:16p12.2-11.2 |
not provided |
GRCh37/hg19 16p12.2-11.2(chr16:21576802-29351826)x3 |
copy number gain |
not provided [RCV001006786] |
Chr16:21576802..29351826 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-11.2(chr16:5805001-34230001) |
copy number gain |
Microcephaly [RCV001252948] |
Chr16:5805001..34230001 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
NM_020718.4(USP31):c.3235T>A (p.Ser1079Thr) |
single nucleotide variant |
not specified [RCV004685522] |
Chr16:23068870 [GRCh38] Chr16:23080191 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1082C>G (p.Thr361Ser) |
single nucleotide variant |
not specified [RCV004685524] |
Chr16:23105448 [GRCh38] Chr16:23116769 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2588T>C (p.Met863Thr) |
single nucleotide variant |
not specified [RCV004685525] |
Chr16:23069517 [GRCh38] Chr16:23080838 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.795G>A (p.Met265Ile) |
single nucleotide variant |
not specified [RCV004685528] |
Chr16:23106464 [GRCh38] Chr16:23117785 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2533A>G (p.Ser845Gly) |
single nucleotide variant |
Sensorineural hearing loss disorder [RCV001353212] |
Chr16:23069572 [GRCh38] Chr16:23080893 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p12.2-11.2(chr16:21594997-29625302)x1 |
copy number loss |
not provided [RCV001795549] |
Chr16:21594997..29625302 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_020718.4(USP31):c.355T>A (p.Cys119Ser) |
single nucleotide variant |
not specified [RCV004306262] |
Chr16:23148916 [GRCh38] Chr16:23160237 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.532C>T (p.Arg178Cys) |
single nucleotide variant |
not specified [RCV004329157] |
Chr16:23148739 [GRCh38] Chr16:23160060 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.332C>G (p.Pro111Arg) |
single nucleotide variant |
not specified [RCV004310879] |
Chr16:23148939 [GRCh38] Chr16:23160260 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p13.3-11.2(chr16:4380767-30445350)x3 |
copy number gain |
not provided [RCV002472599] |
Chr16:4380767..30445350 [GRCh37] Chr16:16p13.3-11.2 |
pathogenic |
GRCh37/hg19 16p12.2-11.2(chr16:21576803-30177240)x3 |
copy number gain |
not provided [RCV002474541] |
Chr16:21576803..30177240 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
NM_020718.4(USP31):c.3035C>T (p.Pro1012Leu) |
single nucleotide variant |
not specified [RCV004141797] |
Chr16:23069070 [GRCh38] Chr16:23080391 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2999G>C (p.Ser1000Thr) |
single nucleotide variant |
not specified [RCV004109509] |
Chr16:23069106 [GRCh38] Chr16:23080427 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3952T>A (p.Ser1318Thr) |
single nucleotide variant |
not specified [RCV004190407] |
Chr16:23068153 [GRCh38] Chr16:23079474 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3514T>A (p.Ser1172Thr) |
single nucleotide variant |
not specified [RCV004217786] |
Chr16:23068591 [GRCh38] Chr16:23079912 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.632A>C (p.Lys211Thr) |
single nucleotide variant |
not specified [RCV004231316] |
Chr16:23148639 [GRCh38] Chr16:23159960 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.316C>G (p.Pro106Ala) |
single nucleotide variant |
not specified [RCV004170193] |
Chr16:23148955 [GRCh38] Chr16:23160276 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2816G>A (p.Arg939Gln) |
single nucleotide variant |
not specified [RCV004141971] |
Chr16:23069289 [GRCh38] Chr16:23080610 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.854A>G (p.Gln285Arg) |
single nucleotide variant |
not specified [RCV004121243] |
Chr16:23106405 [GRCh38] Chr16:23117726 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3176C>T (p.Ser1059Phe) |
single nucleotide variant |
not specified [RCV004121629] |
Chr16:23068929 [GRCh38] Chr16:23080250 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1198G>C (p.Glu400Gln) |
single nucleotide variant |
not specified [RCV004079722] |
Chr16:23102355 [GRCh38] Chr16:23113676 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1261C>T (p.His421Tyr) |
single nucleotide variant |
not specified [RCV004128110] |
Chr16:23090778 [GRCh38] Chr16:23102099 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3539G>A (p.Arg1180Gln) |
single nucleotide variant |
not specified [RCV004242259] |
Chr16:23068566 [GRCh38] Chr16:23079887 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.125G>A (p.Gly42Glu) |
single nucleotide variant |
not specified [RCV004151692] |
Chr16:23149146 [GRCh38] Chr16:23160467 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.163C>T (p.Pro55Ser) |
single nucleotide variant |
not specified [RCV004134288] |
Chr16:23149108 [GRCh38] Chr16:23160429 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3401C>T (p.Ser1134Leu) |
single nucleotide variant |
not specified [RCV004098319] |
Chr16:23068704 [GRCh38] Chr16:23080025 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.677A>G (p.Gln226Arg) |
single nucleotide variant |
not specified [RCV004099255] |
Chr16:23108140 [GRCh38] Chr16:23119461 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2585G>T (p.Cys862Phe) |
single nucleotide variant |
not specified [RCV004234595] |
Chr16:23069520 [GRCh38] Chr16:23080841 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.284C>G (p.Pro95Arg) |
single nucleotide variant |
not specified [RCV004168251] |
Chr16:23148987 [GRCh38] Chr16:23160308 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.47G>A (p.Ser16Asn) |
single nucleotide variant |
not specified [RCV004170308] |
Chr16:23149224 [GRCh38] Chr16:23160545 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3526C>T (p.Pro1176Ser) |
single nucleotide variant |
not specified [RCV004120135] |
Chr16:23068579 [GRCh38] Chr16:23079900 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2856A>C (p.Glu952Asp) |
single nucleotide variant |
not specified [RCV004087678] |
Chr16:23069249 [GRCh38] Chr16:23080570 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3718C>T (p.Arg1240Cys) |
single nucleotide variant |
not specified [RCV004148680] |
Chr16:23068387 [GRCh38] Chr16:23079708 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.62G>C (p.Arg21Pro) |
single nucleotide variant |
not specified [RCV004175355] |
Chr16:23149209 [GRCh38] Chr16:23160530 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2425C>T (p.Arg809Cys) |
single nucleotide variant |
not specified [RCV004268393] |
Chr16:23072108 [GRCh38] Chr16:23083429 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1547G>A (p.Arg516His) |
single nucleotide variant |
not specified [RCV004266577] |
Chr16:23087167 [GRCh38] Chr16:23098488 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2815C>T (p.Arg939Trp) |
single nucleotide variant |
not specified [RCV004265735] |
Chr16:23069290 [GRCh38] Chr16:23080611 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3535C>G (p.Pro1179Ala) |
single nucleotide variant |
not specified [RCV004248387] |
Chr16:23068570 [GRCh38] Chr16:23079891 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1945C>T (p.Arg649Trp) |
single nucleotide variant |
not specified [RCV004323362] |
Chr16:23082443 [GRCh38] Chr16:23093764 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2218G>A (p.Asp740Asn) |
single nucleotide variant |
not specified [RCV004328329] |
Chr16:23073839 [GRCh38] Chr16:23085160 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1036G>A (p.Val346Ile) |
single nucleotide variant |
not specified [RCV004321536] |
Chr16:23105494 [GRCh38] Chr16:23116815 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2576A>G (p.Asn859Ser) |
single nucleotide variant |
not specified [RCV004342873] |
Chr16:23069529 [GRCh38] Chr16:23080850 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2986G>C (p.Asp996His) |
single nucleotide variant |
not specified [RCV004359527] |
Chr16:23069119 [GRCh38] Chr16:23080440 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3164G>A (p.Ser1055Asn) |
single nucleotide variant |
not specified [RCV004359867] |
Chr16:23068941 [GRCh38] Chr16:23080262 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1090A>G (p.Ile364Val) |
single nucleotide variant |
not specified [RCV004358300] |
Chr16:23102463 [GRCh38] Chr16:23113784 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.513C>G (p.Asp171Glu) |
single nucleotide variant |
not specified [RCV004337583] |
Chr16:23148758 [GRCh38] Chr16:23160079 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2525A>G (p.Gln842Arg) |
single nucleotide variant |
not specified [RCV004354324] |
Chr16:23069580 [GRCh38] Chr16:23080901 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2491G>T (p.Gly831Cys) |
single nucleotide variant |
not specified [RCV004343170] |
Chr16:23069614 [GRCh38] Chr16:23080935 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2751C>G (p.Asn917Lys) |
single nucleotide variant |
not specified [RCV004354249] |
Chr16:23069354 [GRCh38] Chr16:23080675 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.4018A>G (p.Ser1340Gly) |
single nucleotide variant |
not provided [RCV003411291] |
Chr16:23068087 [GRCh38] Chr16:23079408 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_020718.4(USP31):c.2442G>A (p.Ser814=) |
single nucleotide variant |
not provided [RCV003411292] |
Chr16:23072091 [GRCh38] Chr16:23083412 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_020718.4(USP31):c.2991C>T (p.Ser997=) |
single nucleotide variant |
not provided [RCV003417679] |
Chr16:23069114 [GRCh38] Chr16:23080435 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_020718.4(USP31):c.1006A>C (p.Ile336Leu) |
single nucleotide variant |
not specified [RCV004484748] |
Chr16:23105524 [GRCh38] Chr16:23116845 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1574A>G (p.Tyr525Cys) |
single nucleotide variant |
not specified [RCV004484749] |
Chr16:23087140 [GRCh38] Chr16:23098461 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1829G>A (p.Arg610Gln) |
single nucleotide variant |
not specified [RCV004484750] |
Chr16:23084861 [GRCh38] Chr16:23096182 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1840G>A (p.Asp614Asn) |
single nucleotide variant |
not specified [RCV004484751] |
Chr16:23082548 [GRCh38] Chr16:23093869 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2528G>A (p.Arg843His) |
single nucleotide variant |
not specified [RCV004484753] |
Chr16:23069577 [GRCh38] Chr16:23080898 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2688G>C (p.Leu896Phe) |
single nucleotide variant |
not specified [RCV004484754] |
Chr16:23069417 [GRCh38] Chr16:23080738 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2740A>C (p.Ser914Arg) |
single nucleotide variant |
not specified [RCV004484755] |
Chr16:23069365 [GRCh38] Chr16:23080686 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2752C>G (p.Leu918Val) |
single nucleotide variant |
not specified [RCV004484756] |
Chr16:23069353 [GRCh38] Chr16:23080674 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2891A>G (p.Asp964Gly) |
single nucleotide variant |
not specified [RCV004484757] |
Chr16:23069214 [GRCh38] Chr16:23080535 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2896C>G (p.Gln966Glu) |
single nucleotide variant |
not specified [RCV004484758] |
Chr16:23069209 [GRCh38] Chr16:23080530 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2923C>T (p.Arg975Cys) |
single nucleotide variant |
not specified [RCV004484759] |
Chr16:23069182 [GRCh38] Chr16:23080503 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2924G>A (p.Arg975His) |
single nucleotide variant |
not specified [RCV004484760] |
Chr16:23069181 [GRCh38] Chr16:23080502 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_020718.4(USP31):c.319T>C (p.Cys107Arg) |
single nucleotide variant |
not specified [RCV004484761] |
Chr16:23148952 [GRCh38] Chr16:23160273 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3202C>G (p.Leu1068Val) |
single nucleotide variant |
not specified [RCV004484762] |
Chr16:23068903 [GRCh38] Chr16:23080224 [GRCh37] Chr16:16p12.2 |
likely benign |
NM_020718.4(USP31):c.3286A>G (p.Lys1096Glu) |
single nucleotide variant |
not specified [RCV004484763] |
Chr16:23068819 [GRCh38] Chr16:23080140 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3511A>G (p.Thr1171Ala) |
single nucleotide variant |
not specified [RCV004484764] |
Chr16:23068594 [GRCh38] Chr16:23079915 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3586G>A (p.Val1196Met) |
single nucleotide variant |
not specified [RCV004484765] |
Chr16:23068519 [GRCh38] Chr16:23079840 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3613C>T (p.Arg1205Cys) |
single nucleotide variant |
not specified [RCV004484766] |
Chr16:23068492 [GRCh38] Chr16:23079813 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3715C>T (p.Arg1239Trp) |
single nucleotide variant |
not specified [RCV004484767] |
Chr16:23068390 [GRCh38] Chr16:23079711 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3719G>A (p.Arg1240His) |
single nucleotide variant |
not specified [RCV004484768] |
Chr16:23068386 [GRCh38] Chr16:23079707 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3722C>T (p.Ser1241Leu) |
single nucleotide variant |
not specified [RCV004484769] |
Chr16:23068383 [GRCh38] Chr16:23079704 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.539C>G (p.Ala180Gly) |
single nucleotide variant |
not specified [RCV004484771] |
Chr16:23148732 [GRCh38] Chr16:23160053 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.608C>T (p.Thr203Ile) |
single nucleotide variant |
not specified [RCV004484772] |
Chr16:23148663 [GRCh38] Chr16:23159984 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.665G>A (p.Arg222Gln) |
single nucleotide variant |
not specified [RCV004484773] |
Chr16:23108152 [GRCh38] Chr16:23119473 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.803G>A (p.Gly268Glu) |
single nucleotide variant |
not specified [RCV004484774] |
Chr16:23106456 [GRCh38] Chr16:23117777 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2020C>T (p.His674Tyr) |
single nucleotide variant |
not specified [RCV004688035] |
Chr16:23080102 [GRCh38] Chr16:23091423 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3577G>A (p.Gly1193Arg) |
single nucleotide variant |
not specified [RCV004688034] |
Chr16:23068528 [GRCh38] Chr16:23079849 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.65C>T (p.Ser22Phe) |
single nucleotide variant |
not specified [RCV004688036] |
Chr16:23149206 [GRCh38] Chr16:23160527 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.362C>T (p.Ala121Val) |
single nucleotide variant |
not specified [RCV004685526] |
Chr16:23148909 [GRCh38] Chr16:23160230 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2882G>T (p.Ser961Ile) |
single nucleotide variant |
not specified [RCV004685527] |
Chr16:23069223 [GRCh38] Chr16:23080544 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3046G>C (p.Ala1016Pro) |
single nucleotide variant |
not specified [RCV004688033] |
Chr16:23069059 [GRCh38] Chr16:23080380 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.599T>G (p.Leu200Arg) |
single nucleotide variant |
not specified [RCV004888074] |
Chr16:23148672 [GRCh38] Chr16:23159993 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.892C>G (p.Gln298Glu) |
single nucleotide variant |
not specified [RCV004888075] |
Chr16:23106274 [GRCh38] Chr16:23117595 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1156A>G (p.Thr386Ala) |
single nucleotide variant |
not specified [RCV004888082] |
Chr16:23102397 [GRCh38] Chr16:23113718 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3926G>T (p.Arg1309Leu) |
single nucleotide variant |
not specified [RCV004888076] |
Chr16:23068179 [GRCh38] Chr16:23079500 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1222C>A (p.Leu408Ile) |
single nucleotide variant |
not specified [RCV004888078] |
Chr16:23102331 [GRCh38] Chr16:23113652 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2863A>G (p.Thr955Ala) |
single nucleotide variant |
not specified [RCV004888080] |
Chr16:23069242 [GRCh38] Chr16:23080563 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3833C>T (p.Pro1278Leu) |
single nucleotide variant |
not specified [RCV004888079] |
Chr16:23068272 [GRCh38] Chr16:23079593 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3548A>G (p.Gln1183Arg) |
single nucleotide variant |
not specified [RCV004888077] |
Chr16:23068557 [GRCh38] Chr16:23079878 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1265T>G (p.Leu422Trp) |
single nucleotide variant |
not specified [RCV004888081] |
Chr16:23090774 [GRCh38] Chr16:23102095 [GRCh37] Chr16:16p12.2 |
uncertain significance |
GRCh37/hg19 16p12.2(chr16:22920852-24124026)x3 |
copy number gain |
not provided [RCV004819623] |
Chr16:22920852..24124026 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1963C>T (p.Arg655Cys) |
single nucleotide variant |
not specified [RCV004879286] |
Chr16:23080159 [GRCh38] Chr16:23091480 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.1561G>A (p.Val521Ile) |
single nucleotide variant |
not specified [RCV004879287] |
Chr16:23087153 [GRCh38] Chr16:23098474 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3214C>T (p.Arg1072Cys) |
single nucleotide variant |
not specified [RCV004879288] |
Chr16:23068891 [GRCh38] Chr16:23080212 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.4003A>G (p.Lys1335Glu) |
single nucleotide variant |
not specified [RCV004879289] |
Chr16:23068102 [GRCh38] Chr16:23079423 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2626C>T (p.Arg876Cys) |
single nucleotide variant |
not specified [RCV004879291] |
Chr16:23069479 [GRCh38] Chr16:23080800 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.2920G>A (p.Asp974Asn) |
single nucleotide variant |
not specified [RCV004879292] |
Chr16:23069185 [GRCh38] Chr16:23080506 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.811T>A (p.Phe271Ile) |
single nucleotide variant |
not specified [RCV004879293] |
Chr16:23106448 [GRCh38] Chr16:23117769 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.943C>T (p.Pro315Ser) |
single nucleotide variant |
not specified [RCV004879294] |
Chr16:23106223 [GRCh38] Chr16:23117544 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_020718.4(USP31):c.3745T>A (p.Leu1249Met) |
single nucleotide variant |
not specified [RCV004879296] |
Chr16:23068360 [GRCh38] Chr16:23079681 [GRCh37] Chr16:16p12.2 |
uncertain significance |