| NM_000626.4(CD79B):c.312C>T (p.Leu104=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000548339] |
Chr17:63930192 [GRCh38]
Chr17:62007552 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.409G>A (p.Gly137Ser) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000015925] |
Chr17:63930095 [GRCh38]
Chr17:62007455 [GRCh37]
Chr17:17q23.3 |
pathogenic |
| NM_000626.4(CD79B):c.238C>T (p.Gln80Ter) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000015926] |
Chr17:63930266 [GRCh38]
Chr17:62007626 [GRCh37]
Chr17:17q23.3 |
pathogenic |
| GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 |
copy number gain |
See cases [RCV000050957] |
Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2 |
pathogenic |
| GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] |
Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3 |
pathogenic |
| GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3 |
copy number gain |
See cases [RCV000052485] |
Chr17:59209629..64222315 [GRCh37]
Chr17:56564411..61652777 [NCBI36]
Chr17:17q23-24 |
pathogenic |
| NM_000626.4(CD79B):c.218A>C (p.Asn73Thr) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000792433]|not specified [RCV000120490] |
Chr17:63930286 [GRCh38]
Chr17:62007646 [GRCh37]
Chr17:17q23.3 |
uncertain significance|not provided |
| NM_000626.4(CD79B):c.179C>T (p.Thr60Met) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002517579]|not provided [RCV001508823]|not specified [RCV000120491] |
Chr17:63930325 [GRCh38]
Chr17:62007685 [GRCh37]
Chr17:17q23.3 |
uncertain significance|not provided |
| NM_000626.4(CD79B):c.497C>T (p.Thr166Met) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001854606]|not specified [RCV000120492] |
Chr17:63929822 [GRCh38]
Chr17:62007182 [GRCh37]
Chr17:17q23.3 |
uncertain significance|not provided |
| GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 |
copy number gain |
See cases [RCV000137437] |
Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1 |
pathogenic |
| GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3 |
copy number gain |
See cases [RCV000240364] |
Chr17:56321134..62080001 [GRCh37]
Chr17:17q22-23.3 |
pathogenic |
| NM_000626.4(CD79B):c.68-9A>G |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000526743] |
Chr17:63931394 [GRCh38]
Chr17:62008754 [GRCh37]
Chr17:17q23.3 |
likely benign |
| GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 |
copy number gain |
See cases [RCV000447823] |
Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3 |
pathogenic |
| NM_000626.4(CD79B):c.366T>C (p.Cys122=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001523215]|not provided [RCV001643145]|not specified [RCV000454896] |
Chr17:63930138 [GRCh38]
Chr17:62007498 [GRCh37]
Chr17:17q23.3 |
benign |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) |
copy number gain |
See cases [RCV000511439] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_000626.4(CD79B):c.90A>G (p.Arg30=) |
single nucleotide variant |
not specified [RCV000608039] |
Chr17:63931363 [GRCh38]
Chr17:62008723 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.381C>T (p.Asn127=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000648113] |
Chr17:63930123 [GRCh38]
Chr17:62007483 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.592-6C>G |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000648112] |
Chr17:63929330 [GRCh38]
Chr17:62006690 [GRCh37]
Chr17:17q23.3 |
likely benign|uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 |
copy number gain |
See cases [RCV000512441] |
Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_000626.4(CD79B):c.414A>G (p.Thr138=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000768173] |
Chr17:63930090 [GRCh38]
Chr17:62007450 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.323C>T (p.Thr108Ile) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000685183] |
Chr17:63930181 [GRCh38]
Chr17:62007541 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.250G>A (p.Glu84Lys) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000687195] |
Chr17:63930254 [GRCh38]
Chr17:62007614 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.422G>A (p.Arg141Gln) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000695201] |
Chr17:63930082 [GRCh38]
Chr17:62007442 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 |
copy number gain |
not provided [RCV000739324] |
Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 |
copy number gain |
not provided [RCV000739320] |
Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 |
copy number gain |
not provided [RCV000739325] |
Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3 |
pathogenic |
| NM_000626.4(CD79B):c.549+133A>G |
single nucleotide variant |
not provided [RCV001693412] |
Chr17:63929637 [GRCh38]
Chr17:62006997 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.15G>A (p.Ala5=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001428278] |
Chr17:63932247 [GRCh38]
Chr17:62009607 [GRCh37]
Chr17:17q23.3 |
likely benign |
| GRCh37/hg19 17q23.2-24.2(chr17:59597348-64886364)x3 |
copy number gain |
not provided [RCV000752158] |
Chr17:59597348..64886364 [GRCh37]
Chr17:17q23.2-24.2 |
pathogenic |
| NM_000626.4(CD79B):c.68-220A>C |
single nucleotide variant |
not provided [RCV001610207] |
Chr17:63931605 [GRCh38]
Chr17:62008965 [GRCh37]
Chr17:17q23.3 |
benign |
| GRCh37/hg19 17q22-24.2(chr17:57357088-66306668) |
copy number gain |
not provided [RCV000767764] |
Chr17:57357088..66306668 [GRCh37]
Chr17:17q22-24.2 |
pathogenic |
| NM_000626.4(CD79B):c.272T>C (p.Leu91Pro) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001051254] |
Chr17:63930232 [GRCh38]
Chr17:62007592 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.48G>A (p.Ala16=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000884988]|CD79B-related disorder [RCV003940515] |
Chr17:63932214 [GRCh38]
Chr17:62009574 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.431-4G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000918388]|CD79B-related disorder [RCV003933078] |
Chr17:63929892 [GRCh38]
Chr17:62007252 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.338G>A (p.Arg113Gln) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000797927]|not specified [RCV004027938] |
Chr17:63930166 [GRCh38]
Chr17:62007526 [GRCh37]
Chr17:17q23.3 |
likely benign|uncertain significance |
| NM_000626.4(CD79B):c.635C>T (p.Thr212Met) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000796857] |
Chr17:63929281 [GRCh38]
Chr17:62006641 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.286A>G (p.Met96Val) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000798503] |
Chr17:63930218 [GRCh38]
Chr17:62007578 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.303C>T (p.Asn101=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000919013] |
Chr17:63930201 [GRCh38]
Chr17:62007561 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.362_366delinsGC (p.Phe121del) |
indel |
Agammaglobulinemia 6, autosomal recessive [RCV000818520] |
Chr17:63930138..63930142 [GRCh38]
Chr17:62007498..62007502 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.208G>A (p.Ala70Thr) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000795110] |
Chr17:63930296 [GRCh38]
Chr17:62007656 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.468G>A (p.Thr156=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001454711] |
Chr17:63929851 [GRCh38]
Chr17:62007211 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.102G>C (p.Arg34=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000897201] |
Chr17:63931351 [GRCh38]
Chr17:62008711 [GRCh37]
Chr17:17q23.3 |
benign |
| GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3 |
copy number gain |
not provided [RCV000845965] |
Chr17:57869604..67078443 [GRCh37]
Chr17:17q23.1-24.2 |
pathogenic |
| NM_000626.4(CD79B):c.557G>A (p.Ser186Asn) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001216378] |
Chr17:63929468 [GRCh38]
Chr17:62006828 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.92C>G (p.Ser31Trp) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001243256] |
Chr17:63931361 [GRCh38]
Chr17:62008721 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.14C>T (p.Ala5Val) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001204451]|not provided [RCV001531442] |
Chr17:63932248 [GRCh38]
Chr17:62009608 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NC_000017.11:g.63932631A>G |
single nucleotide variant |
not provided [RCV001684032] |
Chr17:63932631 [GRCh38]
Chr17:62009991 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.120T>A (p.Gly40=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001421245] |
Chr17:63930384 [GRCh38]
Chr17:62007744 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.165G>A (p.Arg55=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001457884] |
Chr17:63930339 [GRCh38]
Chr17:62007699 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.431-3C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000974775] |
Chr17:63929891 [GRCh38]
Chr17:62007251 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.645A>G (p.Thr215=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000953046] |
Chr17:63929271 [GRCh38]
Chr17:62006631 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.67+10C>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV000888815]|CD79B-related disorder [RCV003948403] |
Chr17:63932185 [GRCh38]
Chr17:62009545 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.646G>C (p.Gly216Arg) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001227745]|not specified [RCV004032613] |
Chr17:63929270 [GRCh38]
Chr17:62006630 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4 |
copy number gain |
not provided [RCV002473722] |
Chr17:61838634..62465444 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.*89T>C |
single nucleotide variant |
not provided [RCV001710809]|not specified [RCV003487740] |
Chr17:63929137 [GRCh38]
Chr17:62006497 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.*153C>G |
single nucleotide variant |
not provided [RCV001684756] |
Chr17:63929073 [GRCh38]
Chr17:62006433 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.118+258G>A |
single nucleotide variant |
not provided [RCV001713572] |
Chr17:63931077 [GRCh38]
Chr17:62008437 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.552T>A (p.Asp184Glu) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002001547] |
Chr17:63929473 [GRCh38]
Chr17:62006833 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.47C>T (p.Ala16Val) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001054030] |
Chr17:63932215 [GRCh38]
Chr17:62009575 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.547A>G (p.Lys183Glu) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001038438] |
Chr17:63929772 [GRCh38]
Chr17:62007132 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.542T>A (p.Leu181Gln) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001318435] |
Chr17:63929777 [GRCh38]
Chr17:62007137 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.341T>G (p.Phe114Cys) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001301812] |
Chr17:63930163 [GRCh38]
Chr17:62007523 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.131C>T (p.Ser44Leu) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001351377] |
Chr17:63930373 [GRCh38]
Chr17:62007733 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.93GGA[1] (p.Glu32del) |
microsatellite |
Agammaglobulinemia 6, autosomal recessive [RCV001341880] |
Chr17:63931355..63931357 [GRCh38]
Chr17:62008715..62008717 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.106C>T (p.Arg36Trp) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001359933] |
Chr17:63931347 [GRCh38]
Chr17:62008707 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.102G>A (p.Arg34=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001396287] |
Chr17:63931351 [GRCh38]
Chr17:62008711 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.430+8C>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001474422] |
Chr17:63930066 [GRCh38]
Chr17:62007426 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.549+14G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001461060] |
Chr17:63929756 [GRCh38]
Chr17:62007116 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.430+10A>C |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001426211] |
Chr17:63930064 [GRCh38]
Chr17:62007424 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.648G>A (p.Gly216=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001448915] |
Chr17:63929268 [GRCh38]
Chr17:62006628 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.498G>A (p.Thr166=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001407040] |
Chr17:63929821 [GRCh38]
Chr17:62007181 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.48G>C (p.Ala16=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001429755] |
Chr17:63932214 [GRCh38]
Chr17:62009574 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.390G>A (p.Ser130=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001432067] |
Chr17:63930114 [GRCh38]
Chr17:62007474 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.213C>T (p.Ser71=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001495123]|not provided [RCV003456499] |
Chr17:63930291 [GRCh38]
Chr17:62007651 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.431-5C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001468539] |
Chr17:63929893 [GRCh38]
Chr17:62007253 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.68-140G>A |
single nucleotide variant |
not provided [RCV001611160] |
Chr17:63931525 [GRCh38]
Chr17:62008885 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.*154C>T |
single nucleotide variant |
not provided [RCV001610065] |
Chr17:63929072 [GRCh38]
Chr17:62006432 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.372G>A (p.Gln124=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001481574] |
Chr17:63930132 [GRCh38]
Chr17:62007492 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.119-7C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001458463] |
Chr17:63930392 [GRCh38]
Chr17:62007752 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.118+12C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001510027] |
Chr17:63931323 [GRCh38]
Chr17:62008683 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.550-8G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001513567] |
Chr17:63929483 [GRCh38]
Chr17:62006843 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.678A>C (p.Pro226=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001452252] |
Chr17:63929238 [GRCh38]
Chr17:62006598 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.213C>G (p.Ser71=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001437423] |
Chr17:63930291 [GRCh38]
Chr17:62007651 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.591+4A>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001948770] |
Chr17:63929430 [GRCh38]
Chr17:62006790 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.591+13G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001949750] |
Chr17:63929421 [GRCh38]
Chr17:62006781 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.329A>G (p.Gln110Arg) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002045844] |
Chr17:63930175 [GRCh38]
Chr17:62007535 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.205A>G (p.Ser69Gly) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002002730] |
Chr17:63930299 [GRCh38]
Chr17:62007659 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.664G>A (p.Val222Ile) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001985650] |
Chr17:63929252 [GRCh38]
Chr17:62006612 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.679G>A (p.Gly227Ser) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001918303] |
Chr17:63929237 [GRCh38]
Chr17:62006597 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.152G>A (p.Arg51His) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002001339] |
Chr17:63930352 [GRCh38]
Chr17:62007712 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.389C>T (p.Ser130Leu) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002025995] |
Chr17:63930115 [GRCh38]
Chr17:62007475 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.304G>A (p.Glu102Lys) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001930669] |
Chr17:63930200 [GRCh38]
Chr17:62007560 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.467C>T (p.Thr156Met) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002018386] |
Chr17:63929852 [GRCh38]
Chr17:62007212 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.591G>A (p.Glu197=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001952198] |
Chr17:63929434 [GRCh38]
Chr17:62006794 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.67+3A>G |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001939314] |
Chr17:63932192 [GRCh38]
Chr17:62009552 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.379A>G (p.Asn127Asp) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV001952470] |
Chr17:63930125 [GRCh38]
Chr17:62007485 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.563_564delinsGG (p.Ala188Gly) |
indel |
Agammaglobulinemia 6, autosomal recessive [RCV001904633] |
Chr17:63929461..63929462 [GRCh38]
Chr17:62006821..62006822 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.67+18A>G |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002190339] |
Chr17:63932177 [GRCh38]
Chr17:62009537 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.549+11G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002190558] |
Chr17:63929759 [GRCh38]
Chr17:62007119 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.405C>T (p.Gly135=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002110462] |
Chr17:63930099 [GRCh38]
Chr17:62007459 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.118+13G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002106704] |
Chr17:63931322 [GRCh38]
Chr17:62008682 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.351T>C (p.Asn117=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002188168] |
Chr17:63930153 [GRCh38]
Chr17:62007513 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.567C>T (p.Gly189=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002168344] |
Chr17:63929458 [GRCh38]
Chr17:62006818 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.550-17T>C |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002169328] |
Chr17:63929492 [GRCh38]
Chr17:62006852 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.549+16G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002075254] |
Chr17:63929754 [GRCh38]
Chr17:62007114 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.354C>T (p.Gly118=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002174618] |
Chr17:63930150 [GRCh38]
Chr17:62007510 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.522C>T (p.Ile174=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002152021] |
Chr17:63929797 [GRCh38]
Chr17:62007157 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.100C>A (p.Arg34=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002189027] |
Chr17:63931353 [GRCh38]
Chr17:62008713 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.75A>C (p.Pro25=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002213052] |
Chr17:63931378 [GRCh38]
Chr17:62008738 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.261G>A (p.Gln87=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002141794] |
Chr17:63930243 [GRCh38]
Chr17:62007603 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.431-19C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002217795] |
Chr17:63929907 [GRCh38]
Chr17:62007267 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.636G>A (p.Thr212=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002142962] |
Chr17:63929280 [GRCh38]
Chr17:62006640 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.282C>T (p.Gly94=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002161981] |
Chr17:63930222 [GRCh38]
Chr17:62007582 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.67+17G>C |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002163943] |
Chr17:63932178 [GRCh38]
Chr17:62009538 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.408C>T (p.Cys136=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002162669] |
Chr17:63930096 [GRCh38]
Chr17:62007456 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.550-6C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002164326] |
Chr17:63929481 [GRCh38]
Chr17:62006841 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.67+9C>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002159041] |
Chr17:63932186 [GRCh38]
Chr17:62009546 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.118+19C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002083104] |
Chr17:63931316 [GRCh38]
Chr17:62008676 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.68-5A>G |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002120817] |
Chr17:63931390 [GRCh38]
Chr17:62008750 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.255T>C (p.Asn85=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002122485] |
Chr17:63930249 [GRCh38]
Chr17:62007609 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.549+11del |
deletion |
Agammaglobulinemia 6, autosomal recessive [RCV002217230] |
Chr17:63929759 [GRCh38]
Chr17:62007119 [GRCh37]
Chr17:17q23.3 |
benign |
| NM_000626.4(CD79B):c.585C>G (p.Thr195=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002136321] |
Chr17:63929440 [GRCh38]
Chr17:62006800 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.549+11G>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002181593] |
Chr17:63929759 [GRCh38]
Chr17:62007119 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NC_000017.10:g.(?_62006586)_(62050201_?)dup |
duplication |
Hyperkalemic periodic paralysis [RCV003111051] |
Chr17:62006586..62050201 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.586T>C (p.Tyr196His) |
single nucleotide variant |
Malignant lymphoma, large B-cell, diffuse [RCV003318324] |
Chr17:63929439 [GRCh38]
Chr17:62006799 [GRCh37]
Chr17:17q23.3 |
likely pathogenic |
| NM_000626.4(CD79B):c.94G>C (p.Glu32Gln) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002681565] |
Chr17:63931359 [GRCh38]
Chr17:62008719 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.256C>A (p.Pro86Thr) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002726941] |
Chr17:63930248 [GRCh38]
Chr17:62007608 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.584C>G (p.Thr195Ser) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003012260] |
Chr17:63929441 [GRCh38]
Chr17:62006801 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.101G>A (p.Arg34Gln) |
single nucleotide variant |
not specified [RCV004234838] |
Chr17:63931352 [GRCh38]
Chr17:62008712 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.124G>A (p.Ala42Thr) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002755908] |
Chr17:63930380 [GRCh38]
Chr17:62007740 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.431-18C>G |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003033910] |
Chr17:63929906 [GRCh38]
Chr17:62007266 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.299A>G (p.Gln100Arg) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002726323] |
Chr17:63930205 [GRCh38]
Chr17:62007565 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.549+17G>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003013505] |
Chr17:63929753 [GRCh38]
Chr17:62007113 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.664G>C (p.Val222Leu) |
single nucleotide variant |
not specified [RCV004144226] |
Chr17:63929252 [GRCh38]
Chr17:62006612 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.431-20C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002740450] |
Chr17:63929908 [GRCh38]
Chr17:62007268 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.431-15C>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002640207] |
Chr17:63929903 [GRCh38]
Chr17:62007263 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.67+14G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002953598] |
Chr17:63932181 [GRCh38]
Chr17:62009541 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.501G>A (p.Leu167=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002658667] |
Chr17:63929818 [GRCh38]
Chr17:62007178 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.67+16C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002619041] |
Chr17:63932179 [GRCh38]
Chr17:62009539 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.387C>T (p.Thr129=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002621111] |
Chr17:63930117 [GRCh38]
Chr17:62007477 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.162C>T (p.Ala54=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003080973] |
Chr17:63930342 [GRCh38]
Chr17:62007702 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.294G>A (p.Glu98=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002830029] |
Chr17:63930210 [GRCh38]
Chr17:62007570 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.431-8_431-7delinsTG |
indel |
Agammaglobulinemia 6, autosomal recessive [RCV002624492] |
Chr17:63929895..63929896 [GRCh38]
Chr17:62007255..62007256 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.672G>A (p.Glu224=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002573775] |
Chr17:63929244 [GRCh38]
Chr17:62006604 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.480T>A (p.Gly160=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002801348] |
Chr17:63929839 [GRCh38]
Chr17:62007199 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.93G>A (p.Ser31=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003084365] |
Chr17:63931360 [GRCh38]
Chr17:62008720 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.621T>C (p.Tyr207=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002632809] |
Chr17:63929295 [GRCh38]
Chr17:62006655 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.641G>A (p.Arg214Gln) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002770872] |
Chr17:63929275 [GRCh38]
Chr17:62006635 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.217A>G (p.Asn73Asp) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002598090] |
Chr17:63930287 [GRCh38]
Chr17:62007647 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.549+20A>G |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003060913] |
Chr17:63929750 [GRCh38]
Chr17:62007110 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.571G>C (p.Glu191Gln) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002770113] |
Chr17:63929454 [GRCh38]
Chr17:62006814 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.591+16G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002900316] |
Chr17:63929418 [GRCh38]
Chr17:62006778 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.118+15C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003047068] |
Chr17:63931320 [GRCh38]
Chr17:62008680 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.669T>C (p.Gly223=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002877413] |
Chr17:63929247 [GRCh38]
Chr17:62006607 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.363C>T (p.Phe121=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003091682] |
Chr17:63930141 [GRCh38]
Chr17:62007501 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.523G>A (p.Val175Met) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003092805]|CD79B-related disorder [RCV003420337] |
Chr17:63929796 [GRCh38]
Chr17:62007156 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.160G>A (p.Ala54Thr) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002635251] |
Chr17:63930344 [GRCh38]
Chr17:62007704 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.362T>G (p.Phe121Cys) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003066733] |
Chr17:63930142 [GRCh38]
Chr17:62007502 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.170G>C (p.Arg57Pro) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002943104] |
Chr17:63930334 [GRCh38]
Chr17:62007694 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.462G>A (p.Arg154=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV002607533] |
Chr17:63929857 [GRCh38]
Chr17:62007217 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.429G>A (p.Met143Ile) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003052693] |
Chr17:63930075 [GRCh38]
Chr17:62007435 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.317C>T (p.Thr106Ile) |
single nucleotide variant |
not specified [RCV004265545] |
Chr17:63930187 [GRCh38]
Chr17:62007547 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.484A>G (p.Ile162Val) |
single nucleotide variant |
not specified [RCV004363112] |
Chr17:63929835 [GRCh38]
Chr17:62007195 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.245T>G (p.Met82Arg) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003630555] |
Chr17:63930259 [GRCh38]
Chr17:62007619 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.549+9G>C |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003517908] |
Chr17:63929761 [GRCh38]
Chr17:62007121 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.225C>T (p.Ser75=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003630916] |
Chr17:63930279 [GRCh38]
Chr17:62007639 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.431-13C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003518317] |
Chr17:63929901 [GRCh38]
Chr17:62007261 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.534C>T (p.Phe178=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003628892] |
Chr17:63929785 [GRCh38]
Chr17:62007145 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.144G>A (p.Gln48=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003630320] |
Chr17:63930360 [GRCh38]
Chr17:62007720 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.431-20C>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003629316] |
Chr17:63929908 [GRCh38]
Chr17:62007268 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.132G>A (p.Ser44=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003629078] |
Chr17:63930372 [GRCh38]
Chr17:62007732 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.279G>A (p.Lys93=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003629804] |
Chr17:63930225 [GRCh38]
Chr17:62007585 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.68-7C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003628684] |
Chr17:63931392 [GRCh38]
Chr17:62008752 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.431-18C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003824712] |
Chr17:63929906 [GRCh38]
Chr17:62007266 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.549+13C>T |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003828748] |
Chr17:63929757 [GRCh38]
Chr17:62007117 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.550-19C>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003630302] |
Chr17:63929494 [GRCh38]
Chr17:62006854 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.24T>C (p.Pro8=) |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003629893] |
Chr17:63932238 [GRCh38]
Chr17:62009598 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.549+9G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003629469] |
Chr17:63929761 [GRCh38]
Chr17:62007121 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.364_366del (p.Cys122del) |
deletion |
Agammaglobulinemia 6, autosomal recessive [RCV003518856] |
Chr17:63930138..63930140 [GRCh38]
Chr17:62007498..62007500 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.67+19G>A |
single nucleotide variant |
Agammaglobulinemia 6, autosomal recessive [RCV003843027] |
Chr17:63932176 [GRCh38]
Chr17:62009536 [GRCh37]
Chr17:17q23.3 |
likely benign |
| GRCh37/hg19 17q23.2-23.3(chr17:58596397-62540700)x3 |
copy number gain |
See cases [RCV004442795] |
Chr17:58596397..62540700 [GRCh37]
Chr17:17q23.2-23.3 |
uncertain significance |
| NM_000626.4(CD79B):c.-8C>T |
single nucleotide variant |
CD79B-related disorder [RCV003941826] |
Chr17:63932269 [GRCh38]
Chr17:62009629 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.214G>A (p.Gly72Ser) |
single nucleotide variant |
not specified [RCV004435542] |
Chr17:63930290 [GRCh38]
Chr17:62007650 [GRCh37]
Chr17:17q23.3 |
likely benign |
| NM_000626.4(CD79B):c.589G>C (p.Glu197Gln) |
single nucleotide variant |
not specified [RCV004435543] |
Chr17:63929436 [GRCh38]
Chr17:62006796 [GRCh37]
Chr17:17q23.3 |
uncertain significance |
