NM_006892.4(DNMT3B):c.565G>A (p.Ala189Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000556975] |
Chr20:32787362 [GRCh38] Chr20:31375168 [GRCh37] Chr20:20q11.21 |
uncertain significance |
DNMT3B, LEU656THR |
variation |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007129] |
Chr20:20q11.2 |
pathogenic |
DNMT3B, EX21-22DEL |
deletion |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007130] |
Chr20:20q11.2 |
pathogenic |
DNMT3B, 1-BP INS, CODON 53 |
insertion |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007131] |
Chr20:20q11.2 |
pathogenic |
NM_006892.4(DNMT3B):c.2421-11G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593854]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007133]|not provided [RCV001268751] |
Chr20:32807751 [GRCh38] Chr20:31395557 [GRCh37] Chr20:20q11.21 |
pathogenic|likely pathogenic |
NM_006892.4(DNMT3B):c.423G>A (p.Pro141=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001494963] |
Chr20:32786618 [GRCh38] Chr20:31374424 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2292G>T (p.Arg764Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001201371]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000544568] |
Chr20:32805398 [GRCh38] Chr20:31393204 [GRCh37] Chr20:20q11.21 |
pathogenic|likely pathogenic|uncertain significance |
NM_006892.4(DNMT3B):c.167C>T (p.Ser56Phe) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002231639]|not provided [RCV000522310] |
Chr20:32781377 [GRCh38] Chr20:31369183 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1454G>A (p.Arg485Gln) |
single nucleotide variant |
not provided [RCV000521490] |
Chr20:32797263 [GRCh38] Chr20:31385069 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2450A>G (p.Asp817Gly) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007125] |
Chr20:32807791 [GRCh38] Chr20:31395597 [GRCh37] Chr20:20q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.2452G>A (p.Val818Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002512865]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007126] |
Chr20:32807793 [GRCh38] Chr20:31395599 [GRCh37] Chr20:20q11.21 |
pathogenic|likely pathogenic|uncertain significance |
NM_006892.4(DNMT3B):c.2177T>G (p.Val726Gly) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002227999] |
Chr20:32802416 [GRCh38] Chr20:31390222 [GRCh37] Chr20:20q11.21 |
pathogenic|uncertain significance |
NM_006892.4(DNMT3B):c.1987G>A (p.Gly663Ser) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007128] |
Chr20:32800916 [GRCh38] Chr20:31388722 [GRCh37] Chr20:20q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.1807G>A (p.Ala603Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002512866]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007132] |
Chr20:32800200 [GRCh38] Chr20:31388006 [GRCh37] Chr20:20q11.21 |
pathogenic|likely pathogenic |
NM_006892.4(DNMT3B):c.2237T>G (p.Val746Gly) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007134] |
Chr20:32805343 [GRCh38] Chr20:31393149 [GRCh37] Chr20:20q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.88C>T (p.Gln30Ter) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007135] |
Chr20:32780411 [GRCh38] Chr20:31368217 [GRCh37] Chr20:20q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.2519G>A (p.Arg840Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593855]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007136] |
Chr20:32807860 [GRCh38] Chr20:31395666 [GRCh37] Chr20:20q11.21 |
pathogenic|likely pathogenic |
NM_006892.4(DNMT3B):c.808T>C (p.Ser270Pro) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000007137] |
Chr20:32789007 [GRCh38] Chr20:31376813 [GRCh37] Chr20:20q11.21 |
pathogenic |
GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3 |
copy number gain |
See cases [RCV000052999] |
Chr20:9811433..39316956 [GRCh38] Chr20:9792081..37945599 [GRCh37] Chr20:9740081..37379013 [NCBI36] Chr20:20p12.2-q12 |
pathogenic |
NM_006892.4(DNMT3B):c.1760-6_1760-5delinsTG |
indel |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001302472] |
Chr20:32800147..32800148 [GRCh38] Chr20:31387953..31387954 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3 |
copy number gain |
See cases [RCV000135358] |
Chr20:31254983..33473080 [GRCh38] Chr20:29842786..32060886 [GRCh37] Chr20:29306447..31524547 [NCBI36] Chr20:20q11.21 |
pathogenic |
GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3 |
copy number gain |
See cases [RCV000135859] |
Chr20:99557..64277321 [GRCh38] Chr20:80198..62908674 [GRCh37] Chr20:28198..62379118 [NCBI36] Chr20:20p13-q13.33 |
pathogenic |
GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3 |
copy number gain |
See cases [RCV000141833] |
Chr20:32062768..35906606 [GRCh38] Chr20:30650571..34494528 [GRCh37] Chr20:30114232..33957942 [NCBI36] Chr20:20q11.21-11.23 |
pathogenic |
GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3 |
copy number gain |
See cases [RCV000240436] |
Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.1144C>T (p.Arg382Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000529046]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138651]|See cases [RCV002252154]|not provided [RCV000524057] |
Chr20:32795426 [GRCh38] Chr20:31383232 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1219G>A (p.Gly407Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001049943]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000282009]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV004725178]|Inborn genetic diseases [RCV002523156]|not provided [RCV004694598] |
Chr20:32795501 [GRCh38] Chr20:31383307 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.341G>A (p.Arg114Gln) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000270418] |
Chr20:32786536 [GRCh38] Chr20:31374342 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1878C>T (p.Asn626=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859865]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000261077]|not provided [RCV004717368] |
Chr20:32800271 [GRCh38] Chr20:31388077 [GRCh37] Chr20:20q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006892.4(DNMT3B):c.*1318del |
deletion |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000269320] |
Chr20:32809214 [GRCh38] Chr20:31397020 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.1572T>C (p.Cys524=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001513226]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000307572]|not provided [RCV001824745]|not specified [RCV000455468] |
Chr20:32798541 [GRCh38] Chr20:31386347 [GRCh37] Chr20:20q11.21 |
benign|not provided |
NM_006892.4(DNMT3B):c.1906-5T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001513229]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000356980]|not provided [RCV001824747]|not specified [RCV000455509] |
Chr20:32800830 [GRCh38] Chr20:31388636 [GRCh37] Chr20:20q11.21 |
benign|not provided |
NM_006892.4(DNMT3B):c.1674T>C (p.Tyr558=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001513227]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000343834]|not provided [RCV001824746]|not specified [RCV000455984] |
Chr20:32798643 [GRCh38] Chr20:31386449 [GRCh37] Chr20:20q11.21 |
benign|not provided |
NM_006892.4(DNMT3B):c.1760-8C>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859840]|DNMT3B-related disorder [RCV003922475]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000309459]|not provided [RCV003656633] |
Chr20:32800145 [GRCh38] Chr20:31387951 [GRCh37] Chr20:20q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006892.4(DNMT3B):c.1760-8C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001079114]|DNMT3B-related disorder [RCV003912424]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000359565]|not provided [RCV000658910]|not specified [RCV001702007] |
Chr20:32800145 [GRCh38] Chr20:31387951 [GRCh37] Chr20:20q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006892.4(DNMT3B):c.1760-5C>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001513228]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000394272]|not provided [RCV001534488]|not specified [RCV000454844] |
Chr20:32800148 [GRCh38] Chr20:32800148..32800149 [GRCh38] Chr20:31387954 [GRCh37] Chr20:31387954..31387955 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.*942A>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000275326] |
Chr20:32808845 [GRCh38] Chr20:31396651 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.*245dup |
duplication |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000282840] |
Chr20:32808142..32808143 [GRCh38] Chr20:31395948..31395949 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*1076C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000370940] |
Chr20:32808979 [GRCh38] Chr20:31396785 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.143-8C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001461705]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000315142]|not provided [RCV000762342] |
Chr20:32781345 [GRCh38] Chr20:31369151 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1881C>T (p.Asp627=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001081826]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000316191]|not provided [RCV004717369] |
Chr20:32800274 [GRCh38] Chr20:31388080 [GRCh37] Chr20:20q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006892.4(DNMT3B):c.895C>A (p.Arg299=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002520010]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000364913] |
Chr20:32791682 [GRCh38] Chr20:31379488 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.*827A>G |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000368232]|not provided [RCV004717371] |
Chr20:32808730 [GRCh38] Chr20:31396536 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.1211A>G (p.Tyr404Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859904]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000371781]|Kabuki syndrome 1 [RCV000578148]|not provided [RCV001618596]|not specified [RCV002265745] |
Chr20:32795493 [GRCh38] Chr20:31383299 [GRCh37] Chr20:20q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006892.4(DNMT3B):c.-234G>C |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000279491] |
Chr20:32762472 [GRCh38] Chr20:31350278 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.158C>T (p.Ser53Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003114498]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000369778] |
Chr20:32781368 [GRCh38] Chr20:31369174 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*1332C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000326746] |
Chr20:32809235 [GRCh38] Chr20:31397041 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.922-8C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001080093]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000320803]|not provided [RCV000762343] |
Chr20:32792618 [GRCh38] Chr20:31380424 [GRCh37] Chr20:20q11.21 |
benign|likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.*1405C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000320744] |
Chr20:32809308 [GRCh38] Chr20:31397114 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.-274C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000378601]|not provided [RCV004717366] |
Chr20:32762432 [GRCh38] Chr20:31350238 [GRCh37] Chr20:20q11.21 |
benign|uncertain significance |
NM_006892.4(DNMT3B):c.1413C>T (p.Asp471=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859942]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000351765]|not provided [RCV004717367] |
Chr20:32797222 [GRCh38] Chr20:31385028 [GRCh37] Chr20:20q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006892.4(DNMT3B):c.1557G>A (p.Gln519=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859947]|DNMT3B-related disorder [RCV003922474]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000403124]|not provided [RCV003656632] |
Chr20:32798526 [GRCh38] Chr20:31386332 [GRCh37] Chr20:20q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006892.4(DNMT3B):c.*55G>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000332814] |
Chr20:32807958 [GRCh38] Chr20:31395764 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*1336G>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000383580] |
Chr20:32809239 [GRCh38] Chr20:31397045 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1996+9C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859938]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000386422] |
Chr20:32800934 [GRCh38] Chr20:31388740 [GRCh37] Chr20:20q11.21 |
benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006892.4(DNMT3B):c.1996+7A>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001448343]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000331788] |
Chr20:32800932 [GRCh38] Chr20:31388738 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1297+10T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001466287]|DNMT3B-related disorder [RCV003932349]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000386529] |
Chr20:32795704 [GRCh38] Chr20:31383510 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.*1350G>C |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000291628] |
Chr20:32809253 [GRCh38] Chr20:31397059 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1359G>A (p.Gly453=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000958027]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000292138]|not provided [RCV004703817] |
Chr20:32796851 [GRCh38] Chr20:31384657 [GRCh37] Chr20:20q11.21 |
benign|likely benign |
NM_006892.4(DNMT3B):c.1252+13T>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522268]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000336725]|not provided [RCV001613106]|not specified [RCV000454795] |
Chr20:32795547 [GRCh38] Chr20:31383353 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.143-9C>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001086266]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000395142]|not provided [RCV000788164] |
Chr20:32781344 [GRCh38] Chr20:31369150 [GRCh37] Chr20:20q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006892.4(DNMT3B):c.*747C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000396812] |
Chr20:32808650 [GRCh38] Chr20:31396456 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*560C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000298192] |
Chr20:32808463 [GRCh38] Chr20:31396269 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1996+6C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859841]|DNMT3B-related disorder [RCV003922476]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000262657]|not provided [RCV003656634] |
Chr20:32800931 [GRCh38] Chr20:31388737 [GRCh37] Chr20:20q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006892.4(DNMT3B):c.*443C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000402842]|not provided [RCV004717370] |
Chr20:32808346 [GRCh38] Chr20:32808346..32808347 [GRCh38] Chr20:31396152 [GRCh37] Chr20:31396152..31396153 [GRCh37] Chr20:20q11.21 |
benign|likely benign |
NM_006892.4(DNMT3B):c.904A>G (p.Met302Val) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000265593] |
Chr20:32791691 [GRCh38] Chr20:31379497 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*113G>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000348099] |
Chr20:32808016 [GRCh38] Chr20:31395822 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.115G>C (p.Glu39Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001227553]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000349798]|Inborn genetic diseases [RCV002520009] |
Chr20:32780438 [GRCh38] Chr20:31368244 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.-163A>C |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000405442] |
Chr20:32762543 [GRCh38] Chr20:31350349 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1035C>T (p.Ile345=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000974776]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000266595]|not provided [RCV003430859] |
Chr20:32792739 [GRCh38] Chr20:31380545 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1804G>A (p.Val602Ile) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001489754]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000305828] |
Chr20:32800197 [GRCh38] Chr20:31388003 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.516C>T (p.Asp172=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002523155]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000306852] |
Chr20:32787313 [GRCh38] Chr20:31375119 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1579T>C (p.Cys527Arg) |
single nucleotide variant |
Facioscapulohumeral muscular dystrophy 4, digenic [RCV001568341] |
Chr20:32798548 [GRCh38] Chr20:31386354 [GRCh37] Chr20:20q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.960C>A (p.Ser320Arg) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000380044] |
Chr20:32792664 [GRCh38] Chr20:31380470 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*70G>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000382754] |
Chr20:32807973 [GRCh38] Chr20:31395779 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1084G>T (p.Val362Leu) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000317127] |
Chr20:32793553 [GRCh38] Chr20:31381359 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*1064del |
deletion |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000332672] |
Chr20:32808965 [GRCh38] Chr20:31396771 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.-224C>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000334519] |
Chr20:32762482 [GRCh38] Chr20:31350288 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*183C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000405844] |
Chr20:32808086 [GRCh38] Chr20:31395892 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2311G>A (p.Val771Ile) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000296781] |
Chr20:32806218 [GRCh38] Chr20:31394024 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*577C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000353066] |
Chr20:32808480 [GRCh38] Chr20:31396286 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*90T>G |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000288490] |
Chr20:32807993 [GRCh38] Chr20:31395799 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*754G>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000299477] |
Chr20:32808657 [GRCh38] Chr20:31396463 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.-62C>G |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000299529] |
Chr20:32762644 [GRCh38] Chr20:31350450 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1760-9C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000394304] |
Chr20:32800144 [GRCh38] Chr20:31387950 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*299del |
deletion |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000342387] |
Chr20:32808192 [GRCh38] Chr20:31395998 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1860G>C (p.Gly620=) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000360530] |
Chr20:32800253 [GRCh38] Chr20:31388059 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1791G>A (p.Lys597=) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138746] |
Chr20:32800184 [GRCh38] Chr20:31387990 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*895T>C |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138860] |
Chr20:32808798 [GRCh38] Chr20:31396604 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.921+13G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003758995]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138649] |
Chr20:32791721 [GRCh38] Chr20:31379527 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1126+15T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002070629]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138650] |
Chr20:32793610 [GRCh38] Chr20:31381416 [GRCh37] Chr20:20q11.21 |
benign|likely benign |
NM_006892.4(DNMT3B):c.677G>A (p.Gly226Glu) |
single nucleotide variant |
not provided [RCV000722742] |
Chr20:32788876 [GRCh38] Chr20:31376682 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1858G>A (p.Gly620Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001350151]|Inborn genetic diseases [RCV002535422]|not provided [RCV000735196] |
Chr20:32800251 [GRCh38] Chr20:31388057 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.732G>A (p.Val244=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000538125] |
Chr20:32788931 [GRCh38] Chr20:31376737 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.562dup (p.Tyr188fs) |
duplication |
not provided [RCV000413388] |
Chr20:32787358..32787359 [GRCh38] Chr20:31375164..31375165 [GRCh37] Chr20:20q11.21 |
pathogenic|likely pathogenic |
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857)x3 |
copy number gain |
See cases [RCV000448977] |
Chr20:24162775..31820857 [GRCh37] Chr20:20p11.21-q11.21 |
likely pathogenic |
NM_006892.4(DNMT3B):c.1330G>A (p.Val444Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001059188]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141227]|Inborn genetic diseases [RCV002525925]|not provided [RCV000479168] |
Chr20:32796822 [GRCh38] Chr20:31384628 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.-6-176C>T |
single nucleotide variant |
not provided [RCV004717604]|not specified [RCV000456042] |
Chr20:32780142 [GRCh38] Chr20:31367948 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.886G>A (p.Val296Ile) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001088271]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138232]|not provided [RCV000483268] |
Chr20:32791673 [GRCh38] Chr20:31379479 [GRCh37] Chr20:20q11.21 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
NM_006892.4(DNMT3B):c.1354G>C (p.Gly452Arg) |
single nucleotide variant |
not provided [RCV000497771] |
Chr20:32796846 [GRCh38] Chr20:31384652 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1957G>A (p.Asp653Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000543048]|not provided [RCV000498054] |
Chr20:32800886 [GRCh38] Chr20:31388692 [GRCh37] Chr20:20q11.21 |
likely pathogenic|uncertain significance |
NM_006892.4(DNMT3B):c.2198G>A (p.Arg733Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001230198]|not provided [RCV000498596] |
Chr20:32802437 [GRCh38] Chr20:31390243 [GRCh37] Chr20:20q11.21 |
likely pathogenic|uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3 |
copy number gain |
See cases [RCV000510832] |
Chr20:61569..62915555 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_006892.4(DNMT3B):c.290G>A (p.Arg97His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000636687]|Inborn genetic diseases [RCV004025478] |
Chr20:32784843 [GRCh38] Chr20:31372649 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000636690]|DNMT3B-related disorder [RCV003928070]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001280986]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV003224358]|not specified [RCV001816578] |
Chr20:32787405 [GRCh38] Chr20:31375211 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.580G>T (p.Asp194Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV003256714] |
Chr20:32787377 [GRCh38] Chr20:31375183 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1150G>A (p.Ala384Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000859846]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000541530]|not provided [RCV001573975] |
Chr20:32795432 [GRCh38] Chr20:31383238 [GRCh37] Chr20:20q11.21 |
benign|likely benign|conflicting interpretations of pathogenicity |
NM_006892.4(DNMT3B):c.1834G>T (p.Ala612Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002231718] |
Chr20:32800227 [GRCh38] Chr20:31388033 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.182C>T (p.Ser61Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003292143] |
Chr20:32781392 [GRCh38] Chr20:31369198 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.73G>A (p.Gly25Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001201367]|DNMT3B-related disorder [RCV004731002]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000636686]|Inborn genetic diseases [RCV002529854]|not provided [RCV000762341]|not specified [RCV004768489] |
Chr20:32780396 [GRCh38] Chr20:31368202 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.2346A>C (p.Lys782Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234514] |
Chr20:32806253 [GRCh38] Chr20:31394059 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2097T>C (p.Val699=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001417492] |
Chr20:32801378 [GRCh38] Chr20:31389184 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.273C>T (p.Phe91=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234000] |
Chr20:32784826 [GRCh38] Chr20:31372632 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.42C>T (p.Ala14=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000636692]|DNMT3B-related disorder [RCV003945606]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141113]|not provided [RCV003736867] |
Chr20:32780365 [GRCh38] Chr20:31368171 [GRCh37] Chr20:20q11.21 |
benign|likely benign |
NM_006892.4(DNMT3B):c.654+9G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234001] |
Chr20:32787460 [GRCh38] Chr20:31375266 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.159G>A (p.Ser53=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001439911]|DNMT3B-related disorder [RCV003953125] |
Chr20:32781369 [GRCh38] Chr20:31369175 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1218C>T (p.Asn406=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000636695] |
Chr20:32795500 [GRCh38] Chr20:31383306 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000636696]|DNMT3B-related disorder [RCV003937912]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141327]|not provided [RCV001702700] |
Chr20:32801423 [GRCh38] Chr20:31389229 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
Single allele |
duplication |
not provided [RCV000677978] |
Chr20:17705775..31600738 [GRCh37] Chr20:20p12.1-q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.1490+8C>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003758924]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000768198]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV003224439] |
Chr20:32797307 [GRCh38] Chr20:31385113 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.2301+1G>T |
single nucleotide variant |
not provided [RCV001780995] |
Chr20:32805408 [GRCh38] Chr20:31393214 [GRCh37] Chr20:20q11.21 |
likely pathogenic |
NM_006892.4(DNMT3B):c.1208_1209delinsAT (p.Cys403Tyr) |
indel |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000687250] |
Chr20:32795490..32795491 [GRCh38] Chr20:31383296..31383297 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.216C>T (p.Gly72=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000687252] |
Chr20:32784769 [GRCh38] Chr20:31372575 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1846G>A (p.Val616Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002233369] |
Chr20:32800239 [GRCh38] Chr20:31388045 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.467C>T (p.Thr156Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000689842] |
Chr20:32787264 [GRCh38] Chr20:31375070 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1538C>T (p.Ala513Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000702880]|not provided [RCV001572694] |
Chr20:32798507 [GRCh38] Chr20:31386313 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.2281G>C (p.Glu761Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002233258]|Inborn genetic diseases [RCV002531483] |
Chr20:32805387 [GRCh38] Chr20:31393193 [GRCh37] Chr20:20q11.21 |
likely pathogenic|uncertain significance |
NM_006892.4(DNMT3B):c.143G>A (p.Gly48Asp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000697050]|Inborn genetic diseases [RCV004619394] |
Chr20:32781353 [GRCh38] Chr20:31369159 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20p13-q13.33(chr20:63244-62961294)x3 |
copy number gain |
not provided [RCV000741059] |
Chr20:63244..62961294 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
GRCh37/hg19 20p13-q13.33(chr20:63244-62948788)x3 |
copy number gain |
not provided [RCV000741058] |
Chr20:63244..62948788 [GRCh37] Chr20:20p13-q13.33 |
pathogenic |
NM_006892.4(DNMT3B):c.2358C>T (p.Asn786=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001496279] |
Chr20:32806265 [GRCh38] Chr20:31394071 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2095G>C (p.Val699Leu) |
single nucleotide variant |
not provided [RCV000762344] |
Chr20:32801376 [GRCh38] Chr20:31389182 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002550616]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000990298] |
Chr20:32807817 [GRCh38] Chr20:31395623 [GRCh37] Chr20:20q11.21 |
pathogenic|likely pathogenic|uncertain significance |
NM_006892.4(DNMT3B):c.255A>C (p.Pro85=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001460498] |
Chr20:32784808 [GRCh38] Chr20:31372614 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.411C>T (p.Pro137=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000967551]|DNMT3B-related disorder [RCV003960788] |
Chr20:32786606 [GRCh38] Chr20:31374412 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1297+9C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000921857]|DNMT3B-related disorder [RCV003970488] |
Chr20:32795703 [GRCh38] Chr20:31383509 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.72C>T (p.Asn24=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000926793] |
Chr20:32780395 [GRCh38] Chr20:31368201 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.684C>T (p.Leu228=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001422542]|DNMT3B-related disorder [RCV003942886]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138229]|not provided [RCV003432925]|not specified [RCV001818892] |
Chr20:32788883 [GRCh38] Chr20:31376689 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.2121G>A (p.Lys707=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000925871] |
Chr20:32801402 [GRCh38] Chr20:31389208 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.124C>T (p.Arg42Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001503172]|DNMT3B-related disorder [RCV003957976] |
Chr20:32780447 [GRCh38] Chr20:31368253 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1542C>T (p.Ala514=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001869319]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143070] |
Chr20:32798511 [GRCh38] Chr20:31386317 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.162A>G (p.Arg54=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001433685] |
Chr20:32781372 [GRCh38] Chr20:31369178 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1737A>G (p.Ser579=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001494390] |
Chr20:32799306 [GRCh38] Chr20:31387112 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1947C>T (p.Ser649=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001475531]|DNMT3B-related disorder [RCV003923218] |
Chr20:32800876 [GRCh38] Chr20:31388682 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1611G>A (p.Arg537=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002066053] |
Chr20:32798580 [GRCh38] Chr20:31386386 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2035C>T (p.Leu679=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003758948] |
Chr20:32801316 [GRCh38] Chr20:31389122 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.564C>T (p.Tyr188=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001471551] |
Chr20:32787361 [GRCh38] Chr20:31375167 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.798T>C (p.Asp266=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002544959] |
Chr20:32788997 [GRCh38] Chr20:31376803 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.655-4C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000920225] |
Chr20:32788850 [GRCh38] Chr20:31376656 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2055G>A (p.Lys685=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000923803]|not provided [RCV001796315] |
Chr20:32801336 [GRCh38] Chr20:31389142 [GRCh37] Chr20:20q11.21 |
benign|likely benign |
NM_006892.4(DNMT3B):c.132G>A (p.Pro44=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001070771]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141115] |
Chr20:32780455 [GRCh38] Chr20:31368261 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.154A>C (p.Ser52Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001052887] |
Chr20:32781364 [GRCh38] Chr20:31369170 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.930G>C (p.Arg310Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001058428]|DNMT3B-related disorder [RCV003393825] |
Chr20:32792634 [GRCh38] Chr20:31380440 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.128C>T (p.Thr43Ile) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000809418]|Inborn genetic diseases [RCV003166285]|not provided [RCV001356974] |
Chr20:32780451 [GRCh38] Chr20:31368257 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.39C>T (p.Asp13=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000884960] |
Chr20:32780362 [GRCh38] Chr20:31368168 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.96C>T (p.Ser32=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000897541]|not provided [RCV004704286] |
Chr20:32780419 [GRCh38] Chr20:31368225 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1662G>A (p.Thr554=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000931477] |
Chr20:32798631 [GRCh38] Chr20:31386437 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.303A>C (p.Pro101=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001447105] |
Chr20:32784856 [GRCh38] Chr20:31372662 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.66C>T (p.Leu22=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001395770]|not provided [RCV003456455] |
Chr20:32780389 [GRCh38] Chr20:31368195 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1080G>A (p.Ser360=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002065909] |
Chr20:32793549 [GRCh38] Chr20:31381355 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1490+9T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000916953]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143069] |
Chr20:32797308 [GRCh38] Chr20:31385114 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.2235C>T (p.Pro745=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001472888] |
Chr20:32805341 [GRCh38] Chr20:31393147 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.922-4G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002066080] |
Chr20:32792622 [GRCh38] Chr20:31380428 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.349C>T (p.His117Tyr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001513732] |
Chr20:32786544 [GRCh38] Chr20:31374350 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.2073G>A (p.Pro691=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000980778] |
Chr20:32801354 [GRCh38] Chr20:31389160 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.131C>T (p.Pro44Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001944943] |
Chr20:32780454 [GRCh38] Chr20:31368260 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1359G>C (p.Gly453=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000916205]|not provided [RCV003432910] |
Chr20:32796851 [GRCh38] Chr20:31384657 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1088G>A (p.Arg363His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000797553]|not provided [RCV004693274] |
Chr20:32793557 [GRCh38] Chr20:31381363 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1016G>T (p.Gly339Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000815712] |
Chr20:32792720 [GRCh38] Chr20:31380526 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2348_2349del (p.Gln783fs) |
deletion |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234880]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000814474] |
Chr20:32806255..32806256 [GRCh38] Chr20:31394061..31394062 [GRCh37] Chr20:20q11.21 |
pathogenic|likely pathogenic |
NM_006892.4(DNMT3B):c.1598A>G (p.His533Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234217] |
Chr20:32798567 [GRCh38] Chr20:31386373 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2139C>T (p.Phe713=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001445320] |
Chr20:32801420 [GRCh38] Chr20:31389226 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2242G>A (p.Ala748Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234363] |
Chr20:32805348 [GRCh38] Chr20:31393154 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1337T>C (p.Phe446Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001244027]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000985130]|not specified [RCV003489986] |
Chr20:32796829 [GRCh38] Chr20:31384635 [GRCh37] Chr20:20q11.21 |
likely pathogenic|uncertain significance |
NM_006892.4(DNMT3B):c.1882G>A (p.Val628Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234821] |
Chr20:32800275 [GRCh38] Chr20:31388081 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.584G>A (p.Ser195Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002235787] |
Chr20:32787381 [GRCh38] Chr20:31375187 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1378-3C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234721] |
Chr20:32797184 [GRCh38] Chr20:31384990 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.331G>A (p.Val111Ile) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234839] |
Chr20:32786526 [GRCh38] Chr20:31374332 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1586C>T (p.Pro529Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000796983]|Inborn genetic diseases [RCV003258974] |
Chr20:32798555 [GRCh38] Chr20:31386361 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1610G>A (p.Arg537Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000797245] |
Chr20:32798579 [GRCh38] Chr20:31386385 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.254C>T (p.Pro85Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002235410] |
Chr20:32784807 [GRCh38] Chr20:31372613 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1591C>T (p.Arg531Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002233822]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000791858]|Inborn genetic diseases [RCV003166084] |
Chr20:32798560 [GRCh38] Chr20:31386366 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.476C>A (p.Pro159Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002233836] |
Chr20:32787273 [GRCh38] Chr20:31375079 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.810C>T (p.Ser270=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002556944]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138231] |
Chr20:32789009 [GRCh38] Chr20:31376815 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.2072C>T (p.Pro691Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234225]|Facioscapulohumeral muscular dystrophy 4, digenic [RCV001568342] |
Chr20:32801353 [GRCh38] Chr20:31389159 [GRCh37] Chr20:20q11.21 |
pathogenic|uncertain significance |
NM_006892.4(DNMT3B):c.1421A>G (p.Tyr474Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234835] |
Chr20:32797230 [GRCh38] Chr20:31385036 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.592G>C (p.Gly198Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234984] |
Chr20:32787389 [GRCh38] Chr20:31375195 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1221C>T (p.Gly407=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002233818] |
Chr20:32795503 [GRCh38] Chr20:31383309 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.592G>T (p.Gly198Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002235086]|DNMT3B-related disorder [RCV003411801]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000816745] |
Chr20:32787389 [GRCh38] Chr20:31375195 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.776G>A (p.Arg259Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234959] |
Chr20:32788975 [GRCh38] Chr20:31376781 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2146-6C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000919441] |
Chr20:32802379 [GRCh38] Chr20:31390185 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2164G>A (p.Asp722Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002234268]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV000795642] |
Chr20:32802403 [GRCh38] Chr20:31390209 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.445C>T (p.Arg149Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001068113] |
Chr20:32787242 [GRCh38] Chr20:31375048 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*763A>G |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138857] |
Chr20:32808666 [GRCh38] Chr20:31396472 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.*765G>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138858] |
Chr20:32808668 [GRCh38] Chr20:31396474 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1630G>A (p.Val544Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003758994]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138326] |
Chr20:32798599 [GRCh38] Chr20:31386405 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.-264C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138550] |
Chr20:32762442 [GRCh38] Chr20:31350248 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20q11.21-11.23(chr20:29833608-35087952)x3 |
copy number gain |
not provided [RCV000849735] |
Chr20:29833608..35087952 [GRCh37] Chr20:20q11.21-11.23 |
pathogenic |
NM_006892.4(DNMT3B):c.352A>G (p.Arg118Gly) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001211510] |
Chr20:32786547 [GRCh38] Chr20:31374353 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2452G>T (p.Val818Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001227327] |
Chr20:32807793 [GRCh38] Chr20:31395599 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.289C>G (p.Arg97Gly) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001239958] |
Chr20:32784842 [GRCh38] Chr20:31372648 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1837G>C (p.Val613Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001237586] |
Chr20:32800230 [GRCh38] Chr20:31388036 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1838T>C (p.Val613Ala) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001225027] |
Chr20:32800231 [GRCh38] Chr20:31388037 [GRCh37] Chr20:20q11.21 |
pathogenic|likely pathogenic |
NM_006892.4(DNMT3B):c.1592G>A (p.Arg531His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001217873]|Inborn genetic diseases [RCV002562439] |
Chr20:32798561 [GRCh38] Chr20:31386367 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1136C>T (p.Thr379Ile) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001221218] |
Chr20:32795418 [GRCh38] Chr20:31383224 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1087C>T (p.Arg363Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001215056]|not provided [RCV001528537] |
Chr20:32793556 [GRCh38] Chr20:31381362 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.145C>T (p.Arg49Ter) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001221994] |
Chr20:32781355 [GRCh38] Chr20:31369161 [GRCh37] Chr20:20q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.505G>A (p.Asp169Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV003251834] |
Chr20:32787302 [GRCh38] Chr20:31375108 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.307-15C>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002070719]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142963] |
Chr20:32786487 [GRCh38] Chr20:31374293 [GRCh37] Chr20:20q11.21 |
benign|uncertain significance |
NM_006892.4(DNMT3B):c.1376G>A (p.Arg459Gln) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143068]|Inborn genetic diseases [RCV004619524] |
Chr20:32796868 [GRCh38] Chr20:31384674 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*312C>G |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001136611] |
Chr20:32808215 [GRCh38] Chr20:31396021 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2184T>C (p.Ala728=) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141329] |
Chr20:32802423 [GRCh38] Chr20:31390229 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NC_000020.10:g.(?_30795725)_(31395729_?)dup |
duplication |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001032627] |
Chr20:30795725..31395729 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1895C>T (p.Thr632Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003291064] |
Chr20:32800288 [GRCh38] Chr20:31388094 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1072A>G (p.Asn358Asp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003104266] |
Chr20:32793541 [GRCh38] Chr20:31381347 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.973T>C (p.Leu325=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000973809] |
Chr20:32792677 [GRCh38] Chr20:31380483 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.142+7G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002065502] |
Chr20:32780472 [GRCh38] Chr20:31368278 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1509C>T (p.Cys503=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000887908] |
Chr20:32798478 [GRCh38] Chr20:31386284 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1620G>A (p.Lys540=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002065517]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138325] |
Chr20:32798589 [GRCh38] Chr20:31386395 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.459G>A (p.Ser153=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000972189]|not provided [RCV004704385] |
Chr20:32787256 [GRCh38] Chr20:31375062 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1155C>T (p.Asp385=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001500562] |
Chr20:32795437 [GRCh38] Chr20:31383243 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.813+8C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000888211]|DNMT3B-related disorder [RCV003968082] |
Chr20:32789020 [GRCh38] Chr20:31376826 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.408C>T (p.Ser136=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000908100]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142965] |
Chr20:32786603 [GRCh38] Chr20:31374409 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1182C>T (p.Pro394=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001413604] |
Chr20:32795464 [GRCh38] Chr20:31383270 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1377+10_1377+12del |
microsatellite |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000927159] |
Chr20:32796875..32796877 [GRCh38] Chr20:31384681..31384683 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.365G>A (p.Arg122His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001242745]|Inborn genetic diseases [RCV004034729] |
Chr20:32786560 [GRCh38] Chr20:31374366 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1760-6_1760-5inv |
inversion |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001244816]|Inborn genetic diseases [RCV002568600] |
Chr20:32800147..32800148 [GRCh38] Chr20:31387953..31387954 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20q11.21(chr20:31282278-31396065)x1 |
copy number loss |
not provided [RCV001007090] |
Chr20:31282278..31396065 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1186C>T (p.Pro396Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001219472]|Inborn genetic diseases [RCV003246770] |
Chr20:32795468 [GRCh38] Chr20:31383274 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.-105C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138552] |
Chr20:32762601 [GRCh38] Chr20:31350407 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.433-13C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001476879]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142966] |
Chr20:32787217 [GRCh38] Chr20:31375023 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.437T>C (p.Leu146Pro) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142967] |
Chr20:32787234 [GRCh38] Chr20:31375040 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*75C>G |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143181] |
Chr20:32807978 [GRCh38] Chr20:31395784 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.*101G>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143182] |
Chr20:32808004 [GRCh38] Chr20:31395810 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*112C>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143183] |
Chr20:32808015 [GRCh38] Chr20:31395821 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1491-6G>A |
single nucleotide variant |
not provided [RCV000889409] |
Chr20:32798454 [GRCh38] Chr20:31386260 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.720C>T (p.Pro240=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000912914]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138230] |
Chr20:32788919 [GRCh38] Chr20:31376725 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.504C>T (p.Ile168=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001477761] |
Chr20:32787301 [GRCh38] Chr20:31375107 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.468G>A (p.Thr156=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000934894] |
Chr20:32787265 [GRCh38] Chr20:31375071 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.336C>T (p.Ser112=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV000912722]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142964]|not provided [RCV004808956] |
Chr20:32786531 [GRCh38] Chr20:31374337 [GRCh37] Chr20:20q11.21 |
benign|likely benign |
NM_006892.4(DNMT3B):c.2529C>T (p.Phe843=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001460398]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001143180] |
Chr20:32807870 [GRCh38] Chr20:31395676 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.*930G>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141447] |
Chr20:32808833 [GRCh38] Chr20:31396639 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*1132C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141448] |
Chr20:32809035 [GRCh38] Chr20:31396841 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1868A>G (p.Lys623Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001047986] |
Chr20:32800261 [GRCh38] Chr20:31388067 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.583A>C (p.Ser195Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001231627] |
Chr20:32787380 [GRCh38] Chr20:31375186 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1758A>G (p.Thr586=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001219691] |
Chr20:32799327 [GRCh38] Chr20:31387133 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.274C>T (p.Arg92Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001056492]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001142962] |
Chr20:32784827 [GRCh38] Chr20:31372633 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1183G>A (p.Ala395Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001214821] |
Chr20:32795465 [GRCh38] Chr20:31383271 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.-267C>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138549] |
Chr20:32762439 [GRCh38] Chr20:31350245 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.-212C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138551] |
Chr20:32762494 [GRCh38] Chr20:31350300 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*832T>C |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138859] |
Chr20:32808735 [GRCh38] Chr20:31396541 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*654G>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001136613] |
Chr20:32808557 [GRCh38] Chr20:31396363 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.*602C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001136612] |
Chr20:32808505 [GRCh38] Chr20:31396311 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2421-4C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003758954]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001001318] |
Chr20:32807758 [GRCh38] Chr20:31395564 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.596G>A (p.Gly199Asp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001215757] |
Chr20:32787393 [GRCh38] Chr20:31375199 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.-303G>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138120] |
Chr20:32762403 [GRCh38] Chr20:31350209 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.780G>A (p.Trp260Ter) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001232126] |
Chr20:32788979 [GRCh38] Chr20:31376785 [GRCh37] Chr20:20q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.2236G>A (p.Val746Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001236189]|Inborn genetic diseases [RCV002563849] |
Chr20:32805342 [GRCh38] Chr20:31393148 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2243C>T (p.Ala748Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001058769] |
Chr20:32805349 [GRCh38] Chr20:31393155 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.340C>T (p.Arg114Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001218211] |
Chr20:32786535 [GRCh38] Chr20:31374341 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1906A>G (p.Ile636Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001211159]|Inborn genetic diseases [RCV002561753] |
Chr20:32800835 [GRCh38] Chr20:31388641 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.364C>T (p.Arg122Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001246720] |
Chr20:32786559 [GRCh38] Chr20:31374365 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.529A>G (p.Thr177Ala) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001070337] |
Chr20:32787326 [GRCh38] Chr20:31375132 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.-21C>T |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141112] |
Chr20:32762685 [GRCh38] Chr20:31350491 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.102G>A (p.Ser34=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001489726]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141114] |
Chr20:32780425 [GRCh38] Chr20:31368231 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1775A>G (p.Lys592Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001063943] |
Chr20:32800168 [GRCh38] Chr20:31387974 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.101C>T (p.Ser34Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001064075] |
Chr20:32780424 [GRCh38] Chr20:31368230 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1615C>T (p.Arg539Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001035404] |
Chr20:32798584 [GRCh38] Chr20:31386390 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.955A>T (p.Ser319Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001054118] |
Chr20:32792659 [GRCh38] Chr20:31380465 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2172C>G (p.Ile724Met) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001141328] |
Chr20:32802411 [GRCh38] Chr20:31390217 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1873G>A (p.Val625Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001055867] |
Chr20:32800266 [GRCh38] Chr20:31388072 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.710C>G (p.Ser237Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001210853] |
Chr20:32788909 [GRCh38] Chr20:31376715 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1058C>T (p.Thr353Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001052137] |
Chr20:32792762 [GRCh38] Chr20:31380568 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1094C>T (p.Ala365Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001056374]|Inborn genetic diseases [RCV003259068] |
Chr20:32793563 [GRCh38] Chr20:31381369 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.539C>T (p.Thr180Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001882417]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001138228] |
Chr20:32787336 [GRCh38] Chr20:31375142 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.763A>G (p.Met255Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001233339] |
Chr20:32788962 [GRCh38] Chr20:31376768 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.142+3G>A |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001334613] |
Chr20:32780468 [GRCh38] Chr20:31368274 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2221G>A (p.Gly741Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001294295] |
Chr20:32802460 [GRCh38] Chr20:31390266 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1040G>T (p.Gly347Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001313139] |
Chr20:32792744 [GRCh38] Chr20:31380550 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.814G>A (p.Val272Ile) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV001332844] |
Chr20:32791601 [GRCh38] Chr20:31379407 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2447C>T (p.Thr816Ile) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001889444] |
Chr20:32807788 [GRCh38] Chr20:31395594 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.379C>T (p.Arg127Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001297381]|Inborn genetic diseases [RCV004619600] |
Chr20:32786574 [GRCh38] Chr20:31374380 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.226G>A (p.Gly76Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001325350] |
Chr20:32784779 [GRCh38] Chr20:31372585 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.377G>C (p.Gly126Ala) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001315208] |
Chr20:32786572 [GRCh38] Chr20:31374378 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1755G>A (p.Ala585=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001422934] |
Chr20:32799324 [GRCh38] Chr20:31387130 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.253C>G (p.Pro85Ala) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001372505] |
Chr20:32784806 [GRCh38] Chr20:31372612 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2301+3A>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001302853] |
Chr20:32805410 [GRCh38] Chr20:31393216 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1446C>T (p.Cys482=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001369934] |
Chr20:32797255 [GRCh38] Chr20:31385061 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1478C>T (p.Thr493Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001359232] |
Chr20:32797287 [GRCh38] Chr20:31385093 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.996del (p.Met332fs) |
deletion |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001383314] |
Chr20:32792700 [GRCh38] Chr20:31380506 [GRCh37] Chr20:20q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.143-3C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001339740] |
Chr20:32781350 [GRCh38] Chr20:31369156 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1360C>T (p.Leu454Phe) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001323830] |
Chr20:32796852 [GRCh38] Chr20:31384658 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1718G>A (p.Arg573Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001371114] |
Chr20:32799287 [GRCh38] Chr20:31387093 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2353A>G (p.Lys785Glu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001345917] |
Chr20:32806260 [GRCh38] Chr20:31394066 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.389G>A (p.Arg130His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001344019] |
Chr20:32786584 [GRCh38] Chr20:31374390 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1749C>T (p.Gly583=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001367531] |
Chr20:32799318 [GRCh38] Chr20:31387124 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2358C>A (p.Asn786Lys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001347333] |
Chr20:32806265 [GRCh38] Chr20:31394071 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.560C>G (p.Pro187Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001369155] |
Chr20:32787357 [GRCh38] Chr20:31375163 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2477G>A (p.Arg826His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001326921]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV004800978] |
Chr20:32807818 [GRCh38] Chr20:31395624 [GRCh37] Chr20:20q11.21 |
likely pathogenic|uncertain significance |
NC_000020.10:g.(?_30795725)_(31395729_?)dup |
duplication |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001300701] |
Chr20:30795725..31395729 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.14C>G (p.Thr5Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001347697] |
Chr20:32780337 [GRCh38] Chr20:31368143 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.595G>C (p.Gly199Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001318084] |
Chr20:32787392 [GRCh38] Chr20:31375198 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1297+6G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001363607]|DNMT3B-related disorder [RCV003908550]|not specified [RCV003155400] |
Chr20:32795700 [GRCh38] Chr20:31383506 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1633C>T (p.Arg545Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001363736] |
Chr20:32798602 [GRCh38] Chr20:31386408 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.488G>A (p.Ser163Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001324591] |
Chr20:32787285 [GRCh38] Chr20:31375091 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2293A>G (p.Ile765Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001307328] |
Chr20:32805399 [GRCh38] Chr20:31393205 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.85G>A (p.Asp29Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001337280] |
Chr20:32780408 [GRCh38] Chr20:31368214 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.43G>A (p.Gly15Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001316619]|Inborn genetic diseases [RCV004034400] |
Chr20:32780366 [GRCh38] Chr20:31368172 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.1613G>A (p.Arg538His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001371845] |
Chr20:32798582 [GRCh38] Chr20:31386388 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.935G>C (p.Arg312Pro) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001298678] |
Chr20:32792639 [GRCh38] Chr20:31380445 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1011C>T (p.His337=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001494853] |
Chr20:32792715 [GRCh38] Chr20:31380521 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.443G>A (p.Arg148Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001296767] |
Chr20:32787240 [GRCh38] Chr20:31375046 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.307-49C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522267]|not provided [RCV004717806] |
Chr20:32786453 [GRCh38] Chr20:31374259 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.1674+18G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001492318] |
Chr20:32798661 [GRCh38] Chr20:31386467 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1252+8T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001492483] |
Chr20:32795542 [GRCh38] Chr20:31383348 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1329C>T (p.Pro443=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001506346] |
Chr20:32796821 [GRCh38] Chr20:31384627 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.691G>T (p.Gly231Ter) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001380868] |
Chr20:32788890 [GRCh38] Chr20:31376696 [GRCh37] Chr20:20q11.21 |
pathogenic |
NC_000020.11:g.32762102T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522265] |
Chr20:32762102 [GRCh38] Chr20:31349908 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.2302-212T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522269] |
Chr20:32805997 [GRCh38] Chr20:31393803 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.1059G>A (p.Thr353=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001501388]|DNMT3B-related disorder [RCV003940875] |
Chr20:32792763 [GRCh38] Chr20:31380569 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2334G>A (p.Ser778=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001485940] |
Chr20:32806241 [GRCh38] Chr20:31394047 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1675-9del |
deletion |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001481650] |
Chr20:32799235 [GRCh38] Chr20:31387041 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.696G>A (p.Lys232=) |
single nucleotide variant |
not provided [RCV001531957] |
Chr20:32788895 [GRCh38] Chr20:31376701 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.433-10C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001403516] |
Chr20:32787220 [GRCh38] Chr20:31375026 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.810C>A (p.Ser270=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001405327] |
Chr20:32789009 [GRCh38] Chr20:31376815 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1905+9A>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001432139] |
Chr20:32800307 [GRCh38] Chr20:31388113 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2532C>T (p.Ala844=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001465150] |
Chr20:32807873 [GRCh38] Chr20:31395679 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2067C>T (p.Asp689=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001473382] |
Chr20:32801348 [GRCh38] Chr20:31389154 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1602C>T (p.Gly534=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001502544] |
Chr20:32798571 [GRCh38] Chr20:31386377 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1603G>A (p.Val535Ile) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001483775]|not provided [RCV004704611] |
Chr20:32798572 [GRCh38] Chr20:31386378 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1920C>T (p.Gly640=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001523303]|not provided [RCV003312006] |
Chr20:32800849 [GRCh38] Chr20:31388655 [GRCh37] Chr20:20q11.21 |
benign|likely benign |
NM_006892.4(DNMT3B):c.1923A>G (p.Pro641=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001523304]|not provided [RCV003312007] |
Chr20:32800852 [GRCh38] Chr20:31388658 [GRCh37] Chr20:20q11.21 |
benign|likely benign |
NM_006892.4(DNMT3B):c.2445C>T (p.Tyr815=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001514522] |
Chr20:32807786 [GRCh38] Chr20:31395592 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.1760-17C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522726]|not provided [RCV004717809] |
Chr20:32800136 [GRCh38] Chr20:31387942 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.2146-7C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001484409] |
Chr20:32802378 [GRCh38] Chr20:31390184 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1941C>T (p.Gly647=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001506290] |
Chr20:32800870 [GRCh38] Chr20:31388676 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1215C>T (p.Asn405=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001514533] |
Chr20:32795497 [GRCh38] Chr20:31383303 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.402C>T (p.Asp134=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001393134] |
Chr20:32786597 [GRCh38] Chr20:31374403 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.222C>T (p.Gly74=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001398066] |
Chr20:32784775 [GRCh38] Chr20:31372581 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2301+7C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001463220] |
Chr20:32805414 [GRCh38] Chr20:31393220 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1872C>T (p.Tyr624=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001393574] |
Chr20:32800265 [GRCh38] Chr20:31388071 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.143-22del |
deletion |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001522266] |
Chr20:32781331 [GRCh38] Chr20:31369137 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.1524G>A (p.Val508=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001459859] |
Chr20:32798493 [GRCh38] Chr20:31386299 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1906-5_1906-4insC |
insertion |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001505904] |
Chr20:32800830..32800831 [GRCh38] Chr20:31388636..31388637 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2506G>A (p.Val836Met) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV003987904]|not provided [RCV001780994] |
Chr20:32807847 [GRCh38] Chr20:31395653 [GRCh37] Chr20:20q11.21 |
likely pathogenic|uncertain significance |
NM_006892.4(DNMT3B):c.1760G>A (p.Gly587Asp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001861095]|not provided [RCV001767251] |
Chr20:32800153 [GRCh38] Chr20:31387959 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.814-3T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001971043] |
Chr20:32791598 [GRCh38] Chr20:31379404 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.289C>T (p.Arg97Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002045596] |
Chr20:32784842 [GRCh38] Chr20:31372648 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1661C>T (p.Thr554Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001896917] |
Chr20:32798630 [GRCh38] Chr20:31386436 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2232-3C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001915364] |
Chr20:32805335 [GRCh38] Chr20:31393141 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.433-20A>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001929430] |
Chr20:32787210 [GRCh38] Chr20:31375016 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.380G>A (p.Arg127Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001929104]|Inborn genetic diseases [RCV003264278] |
Chr20:32786575 [GRCh38] Chr20:31374381 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20p11.23-q11.22(chr20:18665879-33903216)x3 |
copy number gain |
not provided [RCV001829151] |
Chr20:18665879..33903216 [GRCh37] Chr20:20p11.23-q11.22 |
likely pathogenic |
NM_006892.4(DNMT3B):c.457T>A (p.Ser153Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002023162] |
Chr20:32787254 [GRCh38] Chr20:31375060 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1634G>A (p.Arg545His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001910229] |
Chr20:32798603 [GRCh38] Chr20:31386409 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2047C>T (p.Arg683Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001889628] |
Chr20:32801328 [GRCh38] Chr20:31389134 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.78C>T (p.Ala26=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001947080] |
Chr20:32780401 [GRCh38] Chr20:31368207 [GRCh37] Chr20:20q11.21 |
likely benign |
NC_000020.10:g.(?_31368130)_(31369240_?)dup |
duplication |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002004721] |
Chr20:31368130..31369240 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1195C>T (p.Leu399Phe) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001945899] |
Chr20:32795477 [GRCh38] Chr20:31383283 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2116G>A (p.Asp706Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002041757] |
Chr20:32801397 [GRCh38] Chr20:31389203 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1406A>G (p.Tyr469Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001969448]|Inborn genetic diseases [RCV003264354] |
Chr20:32797215 [GRCh38] Chr20:31385021 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.403G>A (p.Glu135Lys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002003673] |
Chr20:32786598 [GRCh38] Chr20:31374404 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20p11.21-q11.21(chr20:24162775-31820857) |
copy number gain |
not specified [RCV002052707] |
Chr20:24162775..31820857 [GRCh37] Chr20:20p11.21-q11.21 |
likely pathogenic |
NM_006892.4(DNMT3B):c.1091G>A (p.Arg364His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001926402] |
Chr20:32793560 [GRCh38] Chr20:31381366 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1489C>T (p.Arg497Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001928862] |
Chr20:32797298 [GRCh38] Chr20:31385104 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2057A>G (p.Glu686Gly) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002007986] |
Chr20:32801338 [GRCh38] Chr20:31389144 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2361A>C (p.Gln787His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001910644] |
Chr20:32806268 [GRCh38] Chr20:31394074 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.356C>T (p.Pro119Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001912536] |
Chr20:32786551 [GRCh38] Chr20:31374357 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20p11.21-q11.22(chr20:25442597-33761550) |
copy number gain |
not specified [RCV002052709] |
Chr20:25442597..33761550 [GRCh37] Chr20:20p11.21-q11.22 |
pathogenic |
NM_006892.4(DNMT3B):c.2058G>C (p.Glu686Asp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001910918] |
Chr20:32801339 [GRCh38] Chr20:31389145 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2263G>A (p.Glu755Lys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002036626] |
Chr20:32805369 [GRCh38] Chr20:31393175 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1252+6T>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002020294] |
Chr20:32795540 [GRCh38] Chr20:31383346 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1275CAA[2] (p.Asn427del) |
microsatellite |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001959888] |
Chr20:32795672..32795674 [GRCh38] Chr20:31383478..31383480 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.197A>G (p.Tyr66Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001869881] |
Chr20:32781407 [GRCh38] Chr20:31369213 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.251C>A (p.Thr84Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001937643] |
Chr20:32784804 [GRCh38] Chr20:31372610 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2246C>A (p.Ser749Ter) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002037908] |
Chr20:32805352 [GRCh38] Chr20:31393158 [GRCh37] Chr20:20q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.1309T>C (p.Ser437Pro) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001921437] |
Chr20:32796801 [GRCh38] Chr20:31384607 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2308A>G (p.Lys770Glu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001943612] |
Chr20:32806215 [GRCh38] Chr20:31394021 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.320A>G (p.Asn107Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001975503] |
Chr20:32786515 [GRCh38] Chr20:31374321 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1016G>A (p.Gly339Asp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001900348]|not provided [RCV004774495] |
Chr20:32792720 [GRCh38] Chr20:31380526 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.142+4G>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001919046] |
Chr20:32780469 [GRCh38] Chr20:31368275 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.560C>A (p.Pro187His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001880440] |
Chr20:32787357 [GRCh38] Chr20:31375163 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2044T>G (p.Ser682Ala) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001952040] |
Chr20:32801325 [GRCh38] Chr20:31389131 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.311G>A (p.Arg104Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001899576] |
Chr20:32786506 [GRCh38] Chr20:31374312 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.997T>A (p.Leu333Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002026207] |
Chr20:32792701 [GRCh38] Chr20:31380507 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1996+6C>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001974750] |
Chr20:32800931 [GRCh38] Chr20:31388737 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1328C>T (p.Pro443Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001934663] |
Chr20:32796820 [GRCh38] Chr20:31384626 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.40G>C (p.Ala14Pro) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001899008] |
Chr20:32780363 [GRCh38] Chr20:31368169 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.655G>A (p.Asp219Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001996072] |
Chr20:32788854 [GRCh38] Chr20:31376660 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1905+6G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001899099] |
Chr20:32800304 [GRCh38] Chr20:31388110 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.619G>A (p.Ala207Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001878663] |
Chr20:32787416 [GRCh38] Chr20:31375222 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1582C>T (p.Leu528Phe) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001934005] |
Chr20:32798551 [GRCh38] Chr20:31386357 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1155C>G (p.Asp385Glu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002031080] |
Chr20:32795437 [GRCh38] Chr20:31383243 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.724A>C (p.Met242Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001922592] |
Chr20:32788923 [GRCh38] Chr20:31376729 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NC_000020.10:g.(?_31189994)_(34287210_?)del |
deletion |
not provided [RCV001956104] |
Chr20:31189994..34287210 [GRCh37] Chr20:20q11.21-11.22 |
pathogenic |
NM_006892.4(DNMT3B):c.1353G>A (p.Glu451=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001934159]|DNMT3B-related disorder [RCV003948834] |
Chr20:32796845 [GRCh38] Chr20:31384651 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.317G>A (p.Arg106Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002019072] |
Chr20:32786512 [GRCh38] Chr20:31374318 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1327C>G (p.Pro443Ala) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001989063] |
Chr20:32796819 [GRCh38] Chr20:31384625 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.242G>C (p.Gly81Ala) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001991984] |
Chr20:32784795 [GRCh38] Chr20:31372601 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1131C>G (p.Asn377Lys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002012766] |
Chr20:32795413 [GRCh38] Chr20:31383219 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1996+16T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001959092] |
Chr20:32800941 [GRCh38] Chr20:31388747 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1975C>A (p.Pro659Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001994322] |
Chr20:32800904 [GRCh38] Chr20:31388710 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.275G>A (p.Arg92Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001923978] |
Chr20:32784828 [GRCh38] Chr20:31372634 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.67G>A (p.Val23Ile) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001925180] |
Chr20:32780390 [GRCh38] Chr20:31368196 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1796G>A (p.Gly599Glu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001981152] |
Chr20:32800189 [GRCh38] Chr20:31387995 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1753G>A (p.Ala585Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV001953938]|not specified [RCV004690201] |
Chr20:32799322 [GRCh38] Chr20:31387128 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1079C>T (p.Ser360Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002033002] |
Chr20:32793548 [GRCh38] Chr20:31381354 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2032CTG[1] (p.Leu679del) |
microsatellite |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002009890] |
Chr20:32801313..32801315 [GRCh38] Chr20:31389119..31389121 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2231+5C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002014699] |
Chr20:32802475 [GRCh38] Chr20:31390281 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1491-4C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002111845] |
Chr20:32798456 [GRCh38] Chr20:31386262 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2460C>T (p.Asn820=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002084761] |
Chr20:32807801 [GRCh38] Chr20:31395607 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.567C>T (p.Ala189=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002145754] |
Chr20:32787364 [GRCh38] Chr20:31375170 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.205-9C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002167235] |
Chr20:32784749 [GRCh38] Chr20:31372555 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1587G>A (p.Pro529=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002130119] |
Chr20:32798556 [GRCh38] Chr20:31386362 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2420+10G>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002148817] |
Chr20:32806337 [GRCh38] Chr20:31394143 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.396T>C (p.His132=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002192599] |
Chr20:32786591 [GRCh38] Chr20:31374397 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1674+17C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002169836] |
Chr20:32798660 [GRCh38] Chr20:31386466 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1167C>T (p.Thr389=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002168032] |
Chr20:32795449 [GRCh38] Chr20:31383255 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1067-20_1067-17del |
deletion |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002104526] |
Chr20:32793516..32793519 [GRCh38] Chr20:31381322..31381325 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1164C>G (p.Ala388=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002087620] |
Chr20:32795446 [GRCh38] Chr20:31383252 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1297+14C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002110293] |
Chr20:32795708 [GRCh38] Chr20:31383514 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.814-4T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002145700] |
Chr20:32791597 [GRCh38] Chr20:31379403 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2451C>T (p.Asp817=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002208960] |
Chr20:32807792 [GRCh38] Chr20:31395598 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2467C>G (p.Arg823Gly) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV002244166] |
Chr20:32807808 [GRCh38] Chr20:31395614 [GRCh37] Chr20:20q11.21 |
likely pathogenic |
NM_006892.4(DNMT3B):c.513A>G (p.Thr171=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002129106] |
Chr20:32787310 [GRCh38] Chr20:31375116 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2420+10G>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002167438] |
Chr20:32806337 [GRCh38] Chr20:31394143 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.225C>T (p.Asp75=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002085099] |
Chr20:32784778 [GRCh38] Chr20:31372584 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1416T>C (p.Asp472=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002124343] |
Chr20:32797225 [GRCh38] Chr20:31385031 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1854C>T (p.His618=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002111859] |
Chr20:32800247 [GRCh38] Chr20:31388053 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1298-20C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002174751] |
Chr20:32796770 [GRCh38] Chr20:31384576 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1759+11G>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002096721] |
Chr20:32799339 [GRCh38] Chr20:31387145 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.252C>T (p.Thr84=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002150888] |
Chr20:32784805 [GRCh38] Chr20:31372611 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1906-11C>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002126193] |
Chr20:32800824 [GRCh38] Chr20:31388630 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.609G>A (p.Pro203=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002130681] |
Chr20:32787406 [GRCh38] Chr20:31375212 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1350T>C (p.Phe450=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002094676] |
Chr20:32796842 [GRCh38] Chr20:31384648 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1997-15C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002216308] |
Chr20:32801263 [GRCh38] Chr20:31389069 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1139G>A (p.Arg380Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003089108]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV002210917] |
Chr20:32795421 [GRCh38] Chr20:31383227 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.204+13C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002124786] |
Chr20:32781427 [GRCh38] Chr20:31369233 [GRCh37] Chr20:20q11.21 |
benign |
NM_006892.4(DNMT3B):c.433-7T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002127812] |
Chr20:32787223 [GRCh38] Chr20:31375029 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2421-7C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002211771] |
Chr20:32807755 [GRCh38] Chr20:31395561 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1906-16T>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002194527] |
Chr20:32800819 [GRCh38] Chr20:31388625 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1066+16C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002087496] |
Chr20:32792786 [GRCh38] Chr20:31380592 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2313A>G (p.Val771=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002077486] |
Chr20:32806220 [GRCh38] Chr20:31394026 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.655-16G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002220130] |
Chr20:32788838 [GRCh38] Chr20:31376644 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.357T>A (p.Pro119=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002104099] |
Chr20:32786552 [GRCh38] Chr20:31374358 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1008C>T (p.Ala336=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002136224] |
Chr20:32792712 [GRCh38] Chr20:31380518 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.777G>A (p.Arg259=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002120336] |
Chr20:32788976 [GRCh38] Chr20:31376782 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.360C>T (p.Ser120=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002101352] |
Chr20:32786555 [GRCh38] Chr20:31374361 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2301+10G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002182874] |
Chr20:32805417 [GRCh38] Chr20:31393223 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.57C>T (p.Asp19=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002104232] |
Chr20:32780380 [GRCh38] Chr20:31368186 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.84C>T (p.Ser28=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002100174] |
Chr20:32780407 [GRCh38] Chr20:31368213 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.432+18C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002217052] |
Chr20:32786645 [GRCh38] Chr20:31374451 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.165C>G (p.Leu55=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002183789] |
Chr20:32781375 [GRCh38] Chr20:31369181 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.267G>A (p.Lys89=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002155930] |
Chr20:32784820 [GRCh38] Chr20:31372626 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.654+16G>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002100656] |
Chr20:32787467 [GRCh38] Chr20:31375273 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.477G>A (p.Pro159=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002139753] |
Chr20:32787274 [GRCh38] Chr20:31375080 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1066+19G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002102706] |
Chr20:32792789 [GRCh38] Chr20:31380595 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.537G>A (p.Gly179=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002140128] |
Chr20:32787334 [GRCh38] Chr20:31375140 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.648G>A (p.Glu216=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002117553] |
Chr20:32787445 [GRCh38] Chr20:31375251 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1491-7G>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002100002] |
Chr20:32798453 [GRCh38] Chr20:31386259 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2361A>G (p.Gln787=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002218720] |
Chr20:32806268 [GRCh38] Chr20:31394074 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1299T>C (p.Asp433=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002177592] |
Chr20:32796791 [GRCh38] Chr20:31384597 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1490+9T>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002123744] |
Chr20:32797308 [GRCh38] Chr20:31385114 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1752C>T (p.Ile584=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002142046] |
Chr20:32799321 [GRCh38] Chr20:31387127 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1759+10G>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003110324] |
Chr20:32799338 [GRCh38] Chr20:31387144 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1727G>A (p.Arg576Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003118383] |
Chr20:32799296 [GRCh38] Chr20:31387102 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.647A>G (p.Glu216Gly) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003119263]|Inborn genetic diseases [RCV004245944] |
Chr20:32787444 [GRCh38] Chr20:31375250 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1174T>C (p.Tyr392His) |
single nucleotide variant |
Inborn genetic diseases [RCV003275739] |
Chr20:32795456 [GRCh38] Chr20:31383262 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003594182]|Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV002281886] |
Chr20:32807782 [GRCh38] Chr20:31395588 [GRCh37] Chr20:20q11.21 |
likely pathogenic |
NM_006892.4(DNMT3B):c.2008C>T (p.Arg670Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002297714] |
Chr20:32801289 [GRCh38] Chr20:31389095 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20q11.21-11.23(chr20:29833535-34815537)x3 |
copy number gain |
not provided [RCV002474532] |
Chr20:29833535..34815537 [GRCh37] Chr20:20q11.21-11.23 |
likely pathogenic |
NM_006892.4(DNMT3B):c.1900A>G (p.Lys634Glu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002301477] |
Chr20:32800293 [GRCh38] Chr20:31388099 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.591G>C (p.Gln197His) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002303357] |
Chr20:32787388 [GRCh38] Chr20:31375194 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1425G>A (p.Gln475=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002863303] |
Chr20:32797234 [GRCh38] Chr20:31385040 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.10G>C (p.Asp4His) |
single nucleotide variant |
Inborn genetic diseases [RCV002906596] |
Chr20:32780333 [GRCh38] Chr20:31368139 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.433-14C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002861900] |
Chr20:32787216 [GRCh38] Chr20:31375022 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.282C>G (p.Thr94=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002756343] |
Chr20:32784835 [GRCh38] Chr20:31372641 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.446G>A (p.Arg149Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002756461]|Inborn genetic diseases [RCV002756462] |
Chr20:32787243 [GRCh38] Chr20:31375049 [GRCh37] Chr20:20q11.21 |
uncertain significance |
GRCh37/hg19 20q11.21-11.23(chr20:29652122-35603726)x3 |
copy number gain |
not provided [RCV002475651] |
Chr20:29652122..35603726 [GRCh37] Chr20:20q11.21-11.23 |
likely pathogenic |
NM_006892.4(DNMT3B):c.1760-6C>G |
single nucleotide variant |
Inborn genetic diseases [RCV002840221] |
Chr20:32800147 [GRCh38] Chr20:31387953 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1717_1718delinsTT (p.Arg573Leu) |
indel |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003015935] |
Chr20:32799286..32799287 [GRCh38] Chr20:31387092..31387093 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1095A>G (p.Ala365=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002751554] |
Chr20:32793564 [GRCh38] Chr20:31381370 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1760-5C>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002816695] |
Chr20:32800148 [GRCh38] Chr20:31387954 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.593G>A (p.Gly198Glu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002994343] |
Chr20:32787390 [GRCh38] Chr20:31375196 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1252+17T>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002726173] |
Chr20:32795551 [GRCh38] Chr20:31383357 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.597C>A (p.Gly199=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002967452] |
Chr20:32787394 [GRCh38] Chr20:31375200 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.407C>G (p.Ser136Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003016358] |
Chr20:32786602 [GRCh38] Chr20:31374408 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1844C>A (p.Thr615Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002972144] |
Chr20:32800237 [GRCh38] Chr20:31388043 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.908A>T (p.Tyr303Phe) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002947695] |
Chr20:32791695 [GRCh38] Chr20:31379501 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.189G>T (p.Leu63=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002694952] |
Chr20:32781399 [GRCh38] Chr20:31369205 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1274C>T (p.Ala425Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003020739] |
Chr20:32795671 [GRCh38] Chr20:31383477 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2505C>T (p.Ser835=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002590856] |
Chr20:32807846 [GRCh38] Chr20:31395652 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.795C>T (p.Gly265=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002620619] |
Chr20:32788994 [GRCh38] Chr20:31376800 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1302C>T (p.Gly434=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003019948] |
Chr20:32796794 [GRCh38] Chr20:31384600 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1717C>T (p.Arg573Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002636901] |
Chr20:32799286 [GRCh38] Chr20:31387092 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1712G>A (p.Arg571Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002690874] |
Chr20:32799281 [GRCh38] Chr20:31387087 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1841G>A (p.Gly614Glu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002999892] |
Chr20:32800234 [GRCh38] Chr20:31388040 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1297+3A>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002848014] |
Chr20:32795697 [GRCh38] Chr20:31383503 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1685A>G (p.Lys562Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002979132] |
Chr20:32799254 [GRCh38] Chr20:31387060 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1308G>A (p.Leu436=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003002421] |
Chr20:32796800 [GRCh38] Chr20:31384606 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1341C>T (p.His447=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002913093] |
Chr20:32796833 [GRCh38] Chr20:31384639 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.57C>G (p.Asp19Glu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002952418] |
Chr20:32780380 [GRCh38] Chr20:31368186 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.843G>A (p.Gly281=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002923075] |
Chr20:32791630 [GRCh38] Chr20:31379436 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.306+18G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002621946] |
Chr20:32784877 [GRCh38] Chr20:31372683 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.142+17G>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002952639] |
Chr20:32780482 [GRCh38] Chr20:31368288 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.906G>A (p.Met302Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002844185] |
Chr20:32791693 [GRCh38] Chr20:31379499 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.408C>A (p.Ser136=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002867927] |
Chr20:32786603 [GRCh38] Chr20:31374409 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1298-16C>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002913645] |
Chr20:32796774 [GRCh38] Chr20:31384580 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1378-17T>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002621931] |
Chr20:32797170 [GRCh38] Chr20:31384976 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.130C>T (p.Pro44Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002958996] |
Chr20:32780453 [GRCh38] Chr20:31368259 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1694C>G (p.Pro565Arg) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003025569] |
Chr20:32799263 [GRCh38] Chr20:31387069 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2466C>T (p.Gly822=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003025570] |
Chr20:32807807 [GRCh38] Chr20:31395613 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.134A>C (p.Glu45Ala) |
single nucleotide variant |
Inborn genetic diseases [RCV002853670] |
Chr20:32780457 [GRCh38] Chr20:31368263 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.785A>G (p.Gln262Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002804785] |
Chr20:32788984 [GRCh38] Chr20:31376790 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2490G>T (p.Leu830=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002805496] |
Chr20:32807831 [GRCh38] Chr20:31395637 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.644C>T (p.Ser215Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002593522] |
Chr20:32787441 [GRCh38] Chr20:31375247 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2340G>A (p.Ser780=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002932481] |
Chr20:32806247 [GRCh38] Chr20:31394053 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1629C>T (p.Asn543=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002594055] |
Chr20:32798598 [GRCh38] Chr20:31386404 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1378-15C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002710226] |
Chr20:32797172 [GRCh38] Chr20:31384978 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1047A>G (p.Lys349=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002872747] |
Chr20:32792751 [GRCh38] Chr20:31380557 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.758A>G (p.Gln253Arg) |
single nucleotide variant |
Inborn genetic diseases [RCV002874785] |
Chr20:32788957 [GRCh38] Chr20:31376763 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2163T>A (p.Ile721=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003006044] |
Chr20:32802402 [GRCh38] Chr20:31390208 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.739A>G (p.Lys247Glu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002985630] |
Chr20:32788938 [GRCh38] Chr20:31376744 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1675-9A>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002624085] |
Chr20:32799235 [GRCh38] Chr20:31387041 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1992G>A (p.Leu664=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002932480] |
Chr20:32800921 [GRCh38] Chr20:31388727 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.433-9T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002625944] |
Chr20:32787221 [GRCh38] Chr20:31375027 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.655-8T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002894229] |
Chr20:32788846 [GRCh38] Chr20:31376652 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.625A>G (p.Ser209Gly) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003058069] |
Chr20:32787422 [GRCh38] Chr20:31375228 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1737A>C (p.Ser579=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003040016] |
Chr20:32799306 [GRCh38] Chr20:31387112 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2421-12C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002624672] |
Chr20:32807750 [GRCh38] Chr20:31395556 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.432+12A>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002852376] |
Chr20:32786639 [GRCh38] Chr20:31374445 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.60G>A (p.Ser20=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002643685] |
Chr20:32780383 [GRCh38] Chr20:31368189 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1754C>T (p.Ala585Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002651308] |
Chr20:32799323 [GRCh38] Chr20:31387129 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1039G>A (p.Gly347Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003048335] |
Chr20:32792743 [GRCh38] Chr20:31380549 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2238G>A (p.Val746=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002770114] |
Chr20:32805344 [GRCh38] Chr20:31393150 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.921+5C>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002938740] |
Chr20:32791713 [GRCh38] Chr20:31379519 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.412G>T (p.Val138Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002632070] |
Chr20:32786607 [GRCh38] Chr20:31374413 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.568C>T (p.Arg190Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002967313]|DNMT3B-related disorder [RCV003418683]|Inborn genetic diseases [RCV002967314] |
Chr20:32787365 [GRCh38] Chr20:31375171 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2340G>T (p.Ser780=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003031559] |
Chr20:32806247 [GRCh38] Chr20:31394053 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1537G>T (p.Ala513Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002807290] |
Chr20:32798506 [GRCh38] Chr20:31386312 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.30A>G (p.Gly10=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002599123] |
Chr20:32780353 [GRCh38] Chr20:31368159 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2459A>G (p.Asn820Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002716025] |
Chr20:32807800 [GRCh38] Chr20:31395606 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1700T>C (p.Ile567Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003029411] |
Chr20:32799269 [GRCh38] Chr20:31387075 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1166C>A (p.Thr389Asn) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002834939] |
Chr20:32795448 [GRCh38] Chr20:31383254 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1377+16_1377+18del |
microsatellite |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002628829] |
Chr20:32796880..32796882 [GRCh38] Chr20:31384686..31384688 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.300C>T (p.Ser100=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003063134] |
Chr20:32784853 [GRCh38] Chr20:31372659 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.813+8C>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002791629] |
Chr20:32789020 [GRCh38] Chr20:31376826 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.775C>T (p.Arg259Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002577225] |
Chr20:32788974 [GRCh38] Chr20:31376780 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1109T>C (p.Leu370Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002966348] |
Chr20:32793578 [GRCh38] Chr20:31381384 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.534T>C (p.His178=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003008477] |
Chr20:32787331 [GRCh38] Chr20:31375137 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.306+20G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002627493] |
Chr20:32784879 [GRCh38] Chr20:31372685 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1489C>G (p.Arg497Gly) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003011578] |
Chr20:32797298 [GRCh38] Chr20:31385104 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2420+23_2420+24del |
microsatellite |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002628510] |
Chr20:32806347..32806348 [GRCh38] Chr20:31394153..31394154 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1297+5C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002966136]|DNMT3B-related disorder [RCV003963487] |
Chr20:32795699 [GRCh38] Chr20:31383505 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.399G>C (p.Val133=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002810677] |
Chr20:32786594 [GRCh38] Chr20:31374400 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1325A>G (p.Asn442Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003047743] |
Chr20:32796817 [GRCh38] Chr20:31384623 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1664G>T (p.Gly555Val) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002650332]|Inborn genetic diseases [RCV002650331] |
Chr20:32798633 [GRCh38] Chr20:31386439 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.768T>C (p.Ser256=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002962739] |
Chr20:32788967 [GRCh38] Chr20:31376773 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.931G>C (p.Val311Leu) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002675592] |
Chr20:32792635 [GRCh38] Chr20:31380441 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.442C>T (p.Arg148Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003087789]|Inborn genetic diseases [RCV003161755] |
Chr20:32787239 [GRCh38] Chr20:31375045 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.205-16A>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003027124] |
Chr20:32784742 [GRCh38] Chr20:31372548 [GRCh37] Chr20:20q11.21 |
likely benign|uncertain significance |
NM_006892.4(DNMT3B):c.873C>G (p.Thr291=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002650562] |
Chr20:32791660 [GRCh38] Chr20:31379466 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1014G>A (p.Gly338=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002714862] |
Chr20:32792718 [GRCh38] Chr20:31380524 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.294A>G (p.Ser98=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003068333] |
Chr20:32784847 [GRCh38] Chr20:31372653 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1490G>A (p.Arg497Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002583842] |
Chr20:32797299 [GRCh38] Chr20:31385105 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.374G>A (p.Arg125Gln) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002633512] |
Chr20:32786569 [GRCh38] Chr20:31374375 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1626G>C (p.Trp542Cys) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003069282] |
Chr20:32798595 [GRCh38] Chr20:31386401 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1479G>A (p.Thr493=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002603127] |
Chr20:32797288 [GRCh38] Chr20:31385094 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1609C>T (p.Arg537Trp) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003067515]|Inborn genetic diseases [RCV003274202] |
Chr20:32798578 [GRCh38] Chr20:31386384 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.301C>T (p.Pro101Ser) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003052748]|Inborn genetic diseases [RCV004070201] |
Chr20:32784854 [GRCh38] Chr20:31372660 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.729G>A (p.Val243=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002634819] |
Chr20:32788928 [GRCh38] Chr20:31376734 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.453A>G (p.Thr151=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003093450] |
Chr20:32787250 [GRCh38] Chr20:31375056 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1705G>A (p.Ala569Thr) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003111665]|Inborn genetic diseases [RCV002722941] |
Chr20:32799274 [GRCh38] Chr20:31387080 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.1817T>C (p.Val606Ala) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003050554] |
Chr20:32800210 [GRCh38] Chr20:31388016 [GRCh37] Chr20:20q11.21 |
pathogenic |
NM_006892.4(DNMT3B):c.412G>A (p.Val138Met) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002606600] |
Chr20:32786607 [GRCh38] Chr20:31374413 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2302-21_2302-20delinsGA |
indel |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003093585] |
Chr20:32806188..32806189 [GRCh38] Chr20:31393994..31393995 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.99C>T (p.Asp33=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV002612538] |
Chr20:32780422 [GRCh38] Chr20:31368228 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1543G>A (p.Glu515Lys) |
single nucleotide variant |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV003224667] |
Chr20:32798512 [GRCh38] Chr20:31386318 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.765G>C (p.Met255Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV003186565] |
Chr20:32788964 [GRCh38] Chr20:31376770 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2291G>A (p.Arg764Lys) |
single nucleotide variant |
not provided [RCV003146811] |
Chr20:32805397 [GRCh38] Chr20:31393203 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.2262_2267del (p.Glu755_Leu756del) |
deletion |
Immunodeficiency-centromeric instability-facial anomalies syndrome 1 [RCV003140596] |
Chr20:32805366..32805371 [GRCh38] Chr20:31393172..31393177 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.178G>A (p.Val60Met) |
single nucleotide variant |
not provided [RCV003146812] |
Chr20:32781388 [GRCh38] Chr20:31369194 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.407C>T (p.Ser136Phe) |
single nucleotide variant |
Inborn genetic diseases [RCV003363887] |
Chr20:32786602 [GRCh38] Chr20:31374408 [GRCh37] Chr20:20q11.21 |
uncertain significance |
NM_006892.4(DNMT3B):c.433-8G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003875411] |
Chr20:32787222 [GRCh38] Chr20:31375028 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.45C>T (p.Gly15=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003873919] |
Chr20:32780368 [GRCh38] Chr20:31368174 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.654+11G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003872725] |
Chr20:32787462 [GRCh38] Chr20:31375268 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1767A>C (p.Leu589=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003825855] |
Chr20:32800160 [GRCh38] Chr20:31387966 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1674+9C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003881388] |
Chr20:32798652 [GRCh38] Chr20:31386458 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.143-5T>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003849031] |
Chr20:32781348 [GRCh38] Chr20:31369154 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1845C>T (p.Thr615=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003831736] |
Chr20:32800238 [GRCh38] Chr20:31388044 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1067-15T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003831641] |
Chr20:32793521 [GRCh38] Chr20:31381327 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1996+14T>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003879634] |
Chr20:32800939 [GRCh38] Chr20:31388745 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2004A>G (p.Thr668=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003877128] |
Chr20:32801285 [GRCh38] Chr20:31389091 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1609C>A (p.Arg537=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003877826] |
Chr20:32798578 [GRCh38] Chr20:31386384 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.205-6A>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003875851] |
Chr20:32784752 [GRCh38] Chr20:31372558 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2214C>T (p.Asn738=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003876347] |
Chr20:32802453 [GRCh38] Chr20:31390259 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1759+9G>A |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003876697] |
Chr20:32799337 [GRCh38] Chr20:31387143 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.183C>T (p.Ser61=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003878880] |
Chr20:32781393 [GRCh38] Chr20:31369199 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.654+1G>C |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003595050] |
Chr20:32787452 [GRCh38] Chr20:31375258 [GRCh37] Chr20:20q11.21 |
likely pathogenic |
NM_006892.4(DNMT3B):c.432+8C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593514] |
Chr20:32786635 [GRCh38] Chr20:31374441 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.838C>T (p.Leu280=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593679] |
Chr20:32791625 [GRCh38] Chr20:31379431 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.433-16G>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003595024] |
Chr20:32787214 [GRCh38] Chr20:31375020 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2235C>G (p.Pro745=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003595085] |
Chr20:32805341 [GRCh38] Chr20:31393147 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.858C>T (p.His286=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593812] |
Chr20:32791645 [GRCh38] Chr20:31379451 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1297+9C>G |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593811] |
Chr20:32795703 [GRCh38] Chr20:31383509 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1407T>C (p.Tyr469=) |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003593665] |
Chr20:32797216 [GRCh38] Chr20:31385022 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.2420+14C>T |
single nucleotide variant |
Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency [RCV003595274] |
Chr20:32806341 [GRCh38] Chr20:31394147 [GRCh37] Chr20:20q11.21 |
likely benign |
NM_006892.4(DNMT3B):c.1803C>T (p.Tyr601=) |
single nucleoti |