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 |
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 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(chr16:22634385-29227323)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 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 16p12.2-11.2(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 |
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(chr16:23567993-23666408)x1 |
copy number loss |
See cases [RCV000447156] |
Chr16:23567993..23666408 [GRCh37] Chr16:16p12.2 |
uncertain significance |
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 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 16p12.2-11.2(chr16:21596299-30399167)x1 |
copy number loss |
See cases [RCV000511271] |
Chr16:21596299..30399167 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
maternal UPD(16p) |
complex |
Hemimegalencephaly [RCV000494707] |
Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2 |
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 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 16p12.3-11.2(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(chr16:21379628-29351826)x3 |
copy number gain |
See cases [RCV000512478] |
Chr16:21379628..29351826 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
GRCh37/hg19 16p12.2-11.2(chr16:21379628-29379768)x1 |
copy number loss |
not provided [RCV000683786] |
Chr16:21379628..29379768 [GRCh37] Chr16:16p12.2-11.2 |
pathogenic |
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)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 16p13.3-q24.3(chr16:88165-90163275)x3 |
copy number gain |
not provided [RCV000738917] |
Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3 |
pathogenic |
NM_005003.3(NDUFAB1):c.40C>T (p.Pro14Ser) |
single nucleotide variant |
not provided [RCV000895425] |
Chr16:23596251 [GRCh38] Chr16:23607572 [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_005003.3(NDUFAB1):c.442A>G (p.Ile148Val) |
single nucleotide variant |
not specified [RCV004306891] |
Chr16:23582313 [GRCh38] Chr16:23593634 [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 |
NM_005003.3(NDUFAB1):c.225G>A (p.Thr75=) |
single nucleotide variant |
not provided [RCV000891160] |
Chr16:23587263 [GRCh38] Chr16:23598584 [GRCh37] Chr16:16p12.2 |
benign |
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(chr16:21576802-29351826)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 |
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 |
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 |
NC_000016.9:g.(?_23464127)_(23635435_?)del |
deletion |
not provided [RCV001951393] |
Chr16:23464127..23635435 [GRCh37] Chr16:16p12.2 |
pathogenic |
NC_000016.9:g.(?_23193865)_(23652612_?)del |
deletion |
COG7 congenital disorder of glycosylation [RCV003113761] |
Chr16:23193865..23652612 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NC_000016.9:g.(?_23543958)_(23619353_?)del |
deletion |
not provided [RCV003122502] |
Chr16:23543958..23619353 [GRCh37] Chr16:16p12.2 |
pathogenic |
NC_000016.9:g.(?_23584033)_(23647150_?)del |
deletion |
Familial cancer of breast [RCV003122698] |
Chr16:23584033..23647150 [GRCh37] Chr16:16p12.2 |
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_005003.3(NDUFAB1):c.196C>T (p.Arg66Cys) |
single nucleotide variant |
not specified [RCV004205713] |
Chr16:23587292 [GRCh38] Chr16:23598613 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_005003.3(NDUFAB1):c.91C>A (p.Pro31Thr) |
single nucleotide variant |
not specified [RCV004234171] |
Chr16:23596200 [GRCh38] Chr16:23607521 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_005003.3(NDUFAB1):c.289A>G (p.Lys97Glu) |
single nucleotide variant |
not specified [RCV004167207] |
Chr16:23587199 [GRCh38] Chr16:23598520 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_005003.3(NDUFAB1):c.16C>T (p.Leu6Phe) |
single nucleotide variant |
not specified [RCV004231805] |
Chr16:23596275 [GRCh38] Chr16:23607596 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_005003.3(NDUFAB1):c.106C>G (p.Leu36Val) |
single nucleotide variant |
not specified [RCV004072731] |
Chr16:23596185 [GRCh38] Chr16:23607506 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_005003.3(NDUFAB1):c.245G>A (p.Arg82His) |
single nucleotide variant |
not specified [RCV004350579] |
Chr16:23587243 [GRCh38] Chr16:23598564 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_005003.3(NDUFAB1):c.37C>G (p.Leu13Val) |
single nucleotide variant |
not specified [RCV004484662] |
Chr16:23596254 [GRCh38] Chr16:23607575 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_005003.3(NDUFAB1):c.65G>T (p.Arg22Leu) |
single nucleotide variant |
not specified [RCV004484668] |
Chr16:23596226 [GRCh38] Chr16:23607547 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_005003.3(NDUFAB1):c.99C>A (p.Ser33Arg) |
single nucleotide variant |
not specified [RCV004484676] |
Chr16:23596192 [GRCh38] Chr16:23607513 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NC_000016.9:g.(?_23605874)_(23640542_?)del |
deletion |
Familial cancer of breast [RCV004581596] |
Chr16:23605874..23640542 [GRCh37] Chr16:16p12.2 |
pathogenic |
GRCh37/hg19 16p12.2(chr16:22920852-24124026)x3 |
copy number gain |
not provided [RCV004819623] |
Chr16:22920852..24124026 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_005003.3(NDUFAB1):c.411G>C (p.Lys137Asn) |
single nucleotide variant |
not specified [RCV004829534] |
Chr16:23582344 [GRCh38] Chr16:23593665 [GRCh37] Chr16:16p12.2 |
uncertain significance |
NM_005003.3(NDUFAB1):c.419G>A (p.Cys140Tyr) |
single nucleotide variant |
not specified [RCV004829533] |
Chr16:23582336 [GRCh38] Chr16:23593657 [GRCh37] Chr16:16p12.2 |
uncertain significance |