| NM_000061.3(BTK):c.941A>G (p.Lys314Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000549821] |
ChrX:101358650 [GRCh38]
ChrX:100613638 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.119A>G (p.Tyr40Cys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000707368]|not provided [RCV000521066] |
ChrX:101375166 [GRCh38]
ChrX:100630154 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1069G>A (p.Glu357Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000546608] |
ChrX:101358343 [GRCh38]
ChrX:100613331 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1455C>A (p.Tyr485Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000029409] |
ChrX:101356163 [GRCh38]
ChrX:100611151 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1511A>T (p.Asp504Val) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000029410] |
ChrX:101356107 [GRCh38]
ChrX:100611095 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1673_1680del (p.Lys558fs) |
deletion |
X-linked agammaglobulinemia [RCV000029411] |
ChrX:101353940..101353947 [GRCh38]
ChrX:100608928..100608935 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.391+143dup |
duplication |
not provided [RCV001689573]|not specified [RCV001804157] |
ChrX:101369854..101369855 [GRCh38]
ChrX:100624842..100624843 [GRCh37]
ChrX:Xq22.1 |
benign|uncertain significance |
| NM_000061.3(BTK):c.472_475del (p.Thr158fs) |
deletion |
X-linked agammaglobulinemia [RCV000029413]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000698891] |
ChrX:101362606..101362609 [GRCh38]
ChrX:100617594..100617597 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.777-2A>G |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000029414]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001055502] |
ChrX:101360152 [GRCh38]
ChrX:100615140 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.777-3C>G |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000029415] |
ChrX:101360153 [GRCh38]
ChrX:100615141 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.840-1G>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000029416]|X-linked agammaglobulinemia with growth hormone deficiency [RCV002513237] |
ChrX:101359348 [GRCh38]
ChrX:100614336 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.895-2A>G |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000029417]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001852584] |
ChrX:101358698 [GRCh38]
ChrX:100613686 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.998A>G (p.His333Arg) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000029418]|X-linked agammaglobulinemia with growth hormone deficiency [RCV002513238] |
ChrX:101358414 [GRCh38]
ChrX:100613402 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1527G>A (p.Met509Ile) |
single nucleotide variant |
not provided [RCV003321319] |
ChrX:101356091 [GRCh38]
ChrX:100611079 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.726dup (p.Ile243fs) |
duplication |
X-linked agammaglobulinemia [RCV000727543] |
ChrX:101360617..101360618 [GRCh38]
ChrX:100615605..100615606 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 |
copy number gain |
See cases [RCV000133911] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|likely pathogenic|conflicting data from submitters |
| NM_000061.3(BTK):c.1574G>A (p.Arg525Gln) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000581245]|X-linked agammaglobulinemia [RCV000012095]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001204367]|not provided [RCV001267912] |
ChrX:101354687 [GRCh38]
ChrX:100609675 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.1288A>G (p.Lys430Glu) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012096] |
ChrX:101356845 [GRCh38]
ChrX:100611833 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.37C>T (p.Arg13Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012097]|X-linked agammaglobulinemia with growth hormone deficiency [RCV005089231] |
ChrX:101375248 [GRCh38]
ChrX:100630236 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.43C>T (p.Gln15Ter) |
single nucleotide variant |
Inherited Immunodeficiency Diseases [RCV001027550]|X-linked agammaglobulinemia [RCV000012098]|X-linked agammaglobulinemia with growth hormone deficiency [RCV002512977] |
ChrX:101375242 [GRCh38]
ChrX:100630230 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.1082A>G (p.Tyr361Cys) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012099]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003511975] |
ChrX:101358330 [GRCh38]
ChrX:100613318 [GRCh37]
ChrX:Xq22.1 |
pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1750+5G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000012100] |
ChrX:101353865 [GRCh38]
ChrX:100608853 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.83G>A (p.Arg28His) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000583846]|X-linked agammaglobulinemia [RCV000012101]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000819061]|not provided [RCV000427660] |
ChrX:101375202 [GRCh38]
ChrX:100630190 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.2T>C (p.Met1Thr) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012102]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003511976] |
ChrX:101375283 [GRCh38]
ChrX:100630271 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| BTK, ALA-ASP, 1952C-A |
single nucleotide variant |
Hypogammaglobulinemia, X-linked [RCV000012103] |
ChrX:Xq21.3-q22 |
pathogenic |
| NM_000061.3(BTK):c.97A>C (p.Thr33Pro) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012104] |
ChrX:101375188 [GRCh38]
ChrX:100630176 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.228_231del (p.Glu76fs) |
deletion |
X-linked agammaglobulinemia [RCV000012105]|X-linked agammaglobulinemia with growth hormone deficiency [RCV005089232] |
ChrX:101374545..101374548 [GRCh38]
ChrX:100629533..100629536 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.141+3_141+4del |
deletion |
X-linked agammaglobulinemia [RCV000012106] |
ChrX:101375140..101375141 [GRCh38]
ChrX:100630128..100630129 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.310-1G>C |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012107]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003511977] |
ChrX:101370080 [GRCh38]
ChrX:100625068 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.310-2A>G |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012108] |
ChrX:101370081 [GRCh38]
ChrX:100625069 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.338T>A (p.Val113Asp) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012109] |
ChrX:101370051 [GRCh38]
ChrX:100625039 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.389del (p.Asn130fs) |
deletion |
X-linked agammaglobulinemia [RCV000012110]|X-linked agammaglobulinemia with growth hormone deficiency [RCV005089233] |
ChrX:101370000 [GRCh38]
ChrX:100624988 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.557dup (p.Pro187fs) |
duplication |
X-linked agammaglobulinemia [RCV000012111]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000691136] |
ChrX:101362203..101362204 [GRCh38]
ChrX:100617191..100617192 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.588_589insCTACATAG (p.Ile197fs) |
insertion |
X-linked agammaglobulinemia [RCV000012112] |
ChrX:101362172..101362173 [GRCh38]
ChrX:100617160..100617161 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.653del (p.Lys218fs) |
deletion |
X-linked agammaglobulinemia [RCV000012113] |
ChrX:101360691 [GRCh38]
ChrX:100615679 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.718G>T (p.Glu240Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012114] |
ChrX:101360626 [GRCh38]
ChrX:100615614 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.755G>A (p.Trp252Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012115]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003511978] |
ChrX:101360589 [GRCh38]
ChrX:100615577 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.763C>T (p.Arg255Ter) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000583310]|X-linked agammaglobulinemia [RCV000012116]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001221640]|not provided [RCV001269823] |
ChrX:101360581 [GRCh38]
ChrX:100615569 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.839+1G>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012117] |
ChrX:101360087 [GRCh38]
ChrX:100615075 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| BTK, 1-BP DEL/3-BP INS, CODON 261 |
indel |
X-linked agammaglobulinemia [RCV000012118] |
ChrX:Xq21.3-q22 |
pathogenic |
| NM_000061.3(BTK):c.862C>T (p.Arg288Trp) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012119]|X-linked agammaglobulinemia [RCV000768159]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001384086]|not provided [RCV001701564] |
ChrX:101359325 [GRCh38]
ChrX:100614313 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.919A>G (p.Arg307Gly) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012120] |
ChrX:101358672 [GRCh38]
ChrX:100613660 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1001A>C (p.Tyr334Ser) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012121] |
ChrX:101358411 [GRCh38]
ChrX:100613399 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.974+1del |
deletion |
X-linked agammaglobulinemia [RCV000012122] |
ChrX:101358616 [GRCh38]
ChrX:100613604 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| BTK, IVS12AS, A-T, -2 |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012123] |
ChrX:Xq21.3-q22 |
pathogenic |
| NM_000061.3(BTK):c.1125T>G (p.Tyr375Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000012124] |
ChrX:101357561 [GRCh38]
ChrX:100612549 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1116_1131dup (p.Ser378fs) |
duplication |
X-linked agammaglobulinemia [RCV000012125] |
ChrX:101357554..101357555 [GRCh38]
ChrX:100612542..100612543 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1223T>C (p.Leu408Pro) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012126] |
ChrX:101356910 [GRCh38]
ChrX:100611898 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1275C>A (p.Tyr425Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012127] |
ChrX:101356858 [GRCh38]
ChrX:100611846 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1506C>A (p.Cys502Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012128] |
ChrX:101356112 [GRCh38]
ChrX:100611100 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1516T>C (p.Cys506Arg) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012129]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001035091] |
ChrX:101356102 [GRCh38]
ChrX:100611090 [GRCh37]
ChrX:Xq22.1 |
pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1558C>T (p.Arg520Ter) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000582314]|X-linked agammaglobulinemia [RCV000012130]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001061773]|not provided [RCV000378493] |
ChrX:101356060 [GRCh38]
ChrX:100611048 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1559G>A (p.Arg520Gln) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012131]|X-linked agammaglobulinemia [RCV002482855]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000637056] |
ChrX:101356059 [GRCh38]
ChrX:100611047 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1589del (p.Asn530fs) |
deletion |
X-linked agammaglobulinemia [RCV000012132] |
ChrX:101354672 [GRCh38]
ChrX:100609660 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| BTK, 4-BP DEL, CODON 527, GTTT |
deletion |
X-linked agammaglobulinemia [RCV000012133] |
ChrX:Xq21.3-q22 |
pathogenic |
| NM_000061.3(BTK):c.1625T>C (p.Leu542Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000012134]|not provided [RCV001810852] |
ChrX:101354636 [GRCh38]
ChrX:100609624 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1631+1G>T |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012135] |
ChrX:101354629 [GRCh38]
ChrX:100609617 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1684C>T (p.Arg562Trp) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000581337]|X-linked agammaglobulinemia [RCV000012136]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000816209] |
ChrX:101353936 [GRCh38]
ChrX:100608924 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1741T>C (p.Trp581Arg) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012137] |
ChrX:101353879 [GRCh38]
ChrX:100608867 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1766A>G (p.Glu589Gly) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012138] |
ChrX:101353336 [GRCh38]
ChrX:100608324 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012139]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003511979] |
ChrX:101353329 [GRCh38]
ChrX:100608317 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000061.3(BTK):c.1820C>A (p.Ala607Asp) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012140] |
ChrX:101353282 [GRCh38]
ChrX:100608270 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1838G>A (p.Gly613Asp) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012141] |
ChrX:101353264 [GRCh38]
ChrX:100608252 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.1889T>A (p.Met630Lys) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012142] |
ChrX:101353213 [GRCh38]
ChrX:100608201 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1906G>T (p.Glu636Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012143] |
ChrX:101353196 [GRCh38]
ChrX:100608184 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1908_1909insTTTTAG (p.Lys637delinsPheTer) |
insertion |
X-linked agammaglobulinemia [RCV000012144] |
ChrX:Xq21.3-q22 |
pathogenic |
| NM_000061.3(BTK):c.1955T>C (p.Leu652Pro) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012145] |
ChrX:101349910 [GRCh38]
ChrX:100604898 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| BTK, 26-BP INS, NT2019 |
insertion |
X-linked agammaglobulinemia [RCV000012146] |
ChrX:Xq21.3-q22 |
pathogenic |
| NM_000061.3(BTK):c.1685G>C (p.Arg562Pro) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012147]|X-linked agammaglobulinemia with growth hormone deficiency [RCV005089234]|not provided [RCV000485427] |
ChrX:101353935 [GRCh38]
ChrX:100608923 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.642_643del (p.Ser214fs) |
deletion |
X-linked agammaglobulinemia [RCV000012148] |
ChrX:101360701..101360702 [GRCh38]
ChrX:100615689..100615690 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.-31+5G>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000012149] |
ChrX:101386057 [GRCh38]
ChrX:100641045 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.894+191_1908+163del |
deletion |
X-linked agammaglobulinemia [RCV000012150] |
ChrX:101353031..101359102 [GRCh38]
ChrX:100608019..100614090 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.2(BTK):c.309+731G>A |
single nucleotide variant |
Lung cancer [RCV000102119] |
ChrX:101370902 [GRCh38]
ChrX:100625890 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.2(BTK):c.-30-5174C>T |
single nucleotide variant |
Lung cancer [RCV000102120] |
ChrX:101380488 [GRCh38]
ChrX:100635476 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 |
copy number gain |
See cases [RCV000050889] |
ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 |
copy number gain |
See cases [RCV000050810] |
ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 |
copy number loss |
See cases [RCV000050811] |
ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000050699] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
Global developmental delay [RCV000050386]|See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000050697] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 |
copy number loss |
See cases [RCV000051665] |
ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 |
copy number loss |
See cases [RCV000051666] |
ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 |
copy number loss |
See cases [RCV000051713] |
ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1 |
copy number loss |
See cases [RCV000051668] |
ChrX:77544283..110500317 [GRCh38]
ChrX:76799762..109743545 [GRCh37]
ChrX:76686418..109630201 [NCBI36]
ChrX:Xq21.1-23 |
pathogenic |
| GRCh38/hg38 Xq22.1(chrX:101323599-101596196)x1 |
copy number loss |
See cases [RCV000051714] |
ChrX:101323599..101596196 [GRCh38]
ChrX:100465243..100737830 [NCBI36]
ChrX:Xq22.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] |
ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 |
copy number gain |
See cases [RCV000052324] |
ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 |
copy number gain |
See cases [RCV000052359] |
ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 |
copy number gain |
Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] |
ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 |
copy number gain |
See cases [RCV000052325] |
ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 |
copy number gain |
See cases [RCV000052322] |
ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 |
copy number gain |
See cases [RCV000052438] |
ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25 |
pathogenic |
| GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3 |
copy number gain |
See cases [RCV000052440] |
ChrX:89372737..106174548 [GRCh38]
ChrX:88627736..105418541 [GRCh37]
ChrX:88514392..105305197 [NCBI36]
ChrX:Xq21.31-22.3 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq22.1(chrX:101359634-101641294)x2 |
copy number gain |
See cases [RCV000054230] |
ChrX:101359634..101641294 [GRCh38]
ChrX:100501278..100782937 [NCBI36]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1688G>T (p.Trp563Leu) |
single nucleotide variant |
not provided [RCV000657909] |
ChrX:101353932 [GRCh38]
ChrX:100608920 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 |
copy number gain |
See cases [RCV000133654] |
ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.1909-9T>C |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001167166]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000637057]|not specified [RCV000175387] |
ChrX:101349965 [GRCh38]
ChrX:100604953 [GRCh37]
ChrX:Xq22.1 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000061.3(BTK):c.1631+71C>T |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001553990]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001554073]|not provided [RCV001597311]|not specified [RCV003487478] |
ChrX:101354559 [GRCh38]
ChrX:100609547 [GRCh37]
ChrX:Xq22.1 |
benign |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 |
copy number loss |
See cases [RCV000133792] |
ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 |
copy number gain |
See cases [RCV000050385] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 |
copy number loss |
See cases [RCV000050386] |
ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 |
copy number loss |
See cases [RCV000052982] |
ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 |
copy number gain |
See cases [RCV000052984] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 |
copy number loss |
See cases [RCV000052986] |
ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 |
copy number gain |
See cases [RCV000133744] |
ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 |
copy number gain |
See cases [RCV000134564] |
ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 |
copy number loss |
See cases [RCV000134570] |
ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 |
copy number loss |
See cases [RCV000133947] |
ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters |
| GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 |
copy number gain |
See cases [RCV000134025] |
ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 |
copy number loss |
See cases [RCV000135300] |
ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 |
copy number loss |
See cases [RCV000135321] |
ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 |
copy number loss |
See cases [RCV000135307] |
ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 |
copy number loss |
See cases [RCV000134958] |
ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 |
copy number loss |
See cases [RCV000135552] |
ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 |
copy number loss |
See cases [RCV000135454] |
ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 |
copy number loss |
See cases [RCV000136478] |
ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 |
copy number gain |
See cases [RCV000136552] |
ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 |
copy number loss |
See cases [RCV000136097] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4 |
copy number gain |
See cases [RCV000136029] |
ChrX:100597687..111651116 [GRCh38]
ChrX:99852684..110894344 [GRCh37]
ChrX:99739340..110781000 [NCBI36]
ChrX:Xq22.1-23 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 |
copy number loss |
See cases [RCV000136005] |
ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) |
copy number loss |
See cases [RCV000136094] |
ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 |
copy number loss |
See cases [RCV000136083] |
ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 |
copy number loss |
See cases [RCV000137113] |
ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 |
copy number gain |
See cases [RCV000136841] |
ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 |
copy number gain |
See cases [RCV000136791] |
ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 |
copy number gain |
See cases [RCV000137553] |
ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1 |
copy number loss |
See cases [RCV000137414] |
ChrX:49100536..102174742 [GRCh38]
ChrX:48957474..101429714 [GRCh37]
ChrX:48844418..101316370 [NCBI36]
ChrX:Xp11.23-q22.1 |
pathogenic|likely benign |
| GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 |
copy number loss |
See cases [RCV000137138] |
ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 |
copy number gain |
See cases [RCV000138020] |
ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1 |
copy number loss |
See cases [RCV000137886] |
ChrX:10701..106113403 [GRCh38]
ChrX:60701..105357395 [GRCh37]
ChrX:701..105244051 [NCBI36]
ChrX:Xp22.33-q22.3 |
pathogenic |
| GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 |
copy number loss |
See cases [RCV000138678] |
ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 |
copy number loss |
See cases [RCV000138787] |
ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 |
copy number loss |
See cases [RCV000139278] |
ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 |
copy number loss |
See cases [RCV000139351] |
ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 |
copy number loss |
See cases [RCV000139400] |
ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 |
copy number gain |
See cases [RCV000139416] |
ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28 |
pathogenic|likely benign |
| GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3 |
copy number gain |
See cases [RCV000139204] |
ChrX:93591590..112530092 [GRCh38]
ChrX:92846589..111773320 [GRCh37]
ChrX:92733245..111659976 [NCBI36]
ChrX:Xq21.32-23 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 |
copy number gain |
See cases [RCV000139888] |
ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1 |
copy number loss |
See cases [RCV000139979] |
ChrX:95823036..104957737 [GRCh38]
ChrX:95078035..104202418 [GRCh37]
ChrX:94964691..104089074 [NCBI36]
ChrX:Xq21.33-22.3 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 |
copy number gain |
See cases [RCV000141400] |
ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 |
copy number gain |
See cases [RCV000141401] |
ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 |
copy number gain |
See cases [RCV000140786] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 |
copy number loss |
See cases [RCV000140787] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic|conflicting data from submitters |
| GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 |
copy number loss |
See cases [RCV000141825] |
ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 |
copy number loss |
See cases [RCV000142016] |
ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604) |
copy number loss |
See cases [RCV000141742] |
ChrX:50289384..119297604 [GRCh38]
ChrX:50032384..118431567 [GRCh37]
ChrX:50049124..118315595 [NCBI36]
ChrX:Xp11.22-q24 |
pathogenic |
| GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1 |
copy number loss |
See cases [RCV000142372] |
ChrX:81109470..109442793 [GRCh38]
ChrX:80364969..108686022 [GRCh37]
ChrX:80251625..108572678 [NCBI36]
ChrX:Xq21.1-23 |
pathogenic |
| GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 |
copy number loss |
See cases [RCV000142337] |
ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 |
copy number loss |
See cases [RCV000142037] |
ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3 |
copy number gain |
See cases [RCV000142134] |
ChrX:251879..118847157 [GRCh38]
ChrX:168546..117981120 [GRCh37]
ChrX:108546..117865148 [NCBI36]
ChrX:Xp22.33-q24 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 |
copy number gain |
See cases [RCV000142625] |
ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 |
copy number loss |
See cases [RCV000143349] |
ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 |
copy number loss |
See cases [RCV000143441] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 |
copy number gain |
See cases [RCV000143433] |
ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 |
copy number loss |
See cases [RCV000143424] |
ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 |
copy number loss |
See cases [RCV000143132] |
ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 |
copy number gain |
See cases [RCV000143219] |
ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2 |
copy number gain |
See cases [RCV000143738] |
ChrX:100861647..101426591 [GRCh38]
ChrX:100116636..100681579 [GRCh37]
ChrX:100003292..100568235 [NCBI36]
ChrX:Xq22.1 |
uncertain significance |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 |
copy number loss |
See cases [RCV000148135] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 |
copy number gain |
See cases [RCV000148141] |
ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 |
copy number gain |
See cases [RCV000240143] |
ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 |
copy number gain |
See cases [RCV000240122] |
ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 |
copy number gain |
See cases [RCV000239843] |
ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.615G>T (p.Glu205Asp) |
single nucleotide variant |
BTK-related disorder [RCV003949877]|X-linked agammaglobulinemia [RCV000356123]|X-linked agammaglobulinemia [RCV002494857]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001085757]|not provided [RCV000515112]|not specified [RCV000308563] |
ChrX:101360729 [GRCh38]
ChrX:100615717 [GRCh37]
ChrX:Xq22.1 |
benign|likely benign |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 |
copy number loss |
See cases [RCV000239832] |
ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 |
copy number gain |
See cases [RCV000239798] |
ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| NM_000061.3(BTK):c.141+11C>T |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000266994]|X-linked agammaglobulinemia [RCV000660378]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000380244]|not provided [RCV000224614]|not specified [RCV000445094] |
ChrX:101375133 [GRCh38]
ChrX:100630121 [GRCh37]
ChrX:Xq22.1 |
benign|likely benign|uncertain significance |
| NM_000061.3(BTK):c.707G>A (p.Arg236Gln) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000556448]|not provided [RCV004714054] |
ChrX:101360637 [GRCh38]
ChrX:100615625 [GRCh37]
ChrX:Xq22.1 |
benign|uncertain significance |
| GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 |
copy number loss |
Premature ovarian failure [RCV000225336] |
ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 |
copy number gain |
See cases [RCV000239874] |
ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 |
copy number gain |
See cases [RCV000239934] |
ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 |
copy number gain |
See cases [RCV000240106] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 |
copy number gain |
See cases [RCV000239989] |
ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 |
copy number loss |
See cases [RCV000239902] |
ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NC_000023.10:g.36649710_136649711del100000002insG |
indel |
Heterotaxy, visceral, 1, X-linked [RCV000754886] |
ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3 |
pathogenic |
| NM_000061.3(BTK):c.307C>T (p.Gln103Ter) |
single nucleotide variant |
not provided [RCV000255735] |
ChrX:101371635 [GRCh38]
ChrX:100626623 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1760T>C (p.Met587Thr) |
single nucleotide variant |
not provided [RCV000255772] |
ChrX:101353342 [GRCh38]
ChrX:100608330 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1899C>T (p.Cys633=) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000407074]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000343690]|not provided [RCV003114414]|not specified [RCV000254181] |
ChrX:101353203 [GRCh38]
ChrX:100608191 [GRCh37]
ChrX:Xq22.1 |
benign |
| GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 |
copy number gain |
See cases [RCV000240148] |
ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 |
copy number gain |
See cases [RCV000240541] |
ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.1632-2A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005090299]|not provided [RCV000255954] |
ChrX:101353990 [GRCh38]
ChrX:100608978 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 |
copy number gain |
See cases [RCV000240552] |
ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 |
copy number gain |
See cases [RCV000240464] |
ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 |
copy number gain |
See cases [RCV000240314] |
ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.520+15C>T |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000265905]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000320999]|not provided [RCV003430977]|not specified [RCV004586696] |
ChrX:101362546 [GRCh38]
ChrX:100617534 [GRCh37]
ChrX:Xq22.1 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000061.3(BTK):c.852A>G (p.Lys284=) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000260615]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000369368] |
ChrX:101359335 [GRCh38]
ChrX:100614323 [GRCh37]
ChrX:Xq22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000061.3(BTK):c.954T>C (p.Ser318=) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000308577]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000528107]|not provided [RCV001810869] |
ChrX:101358637 [GRCh38]
ChrX:100613625 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1573C>T (p.Arg525Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002518801]|not provided [RCV000267626] |
ChrX:101354688 [GRCh38]
ChrX:100609676 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.142-8C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002518102]|not provided [RCV000340012] |
ChrX:101374642 [GRCh38]
ChrX:100629630 [GRCh37]
ChrX:Xq22.1 |
likely benign|uncertain significance |
| NM_000061.3(BTK):c.*334TG[4] |
microsatellite |
Isolated congenital growth hormone deficiency [RCV000276267]|X-linked agammaglobulinemia [RCV000317410] |
ChrX:101349542..101349543 [GRCh38]
ChrX:100604530..100604531 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.*342T>G |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000371943]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000282023] |
ChrX:101349543 [GRCh38]
ChrX:100604531 [GRCh37]
ChrX:Xq22.1 |
likely benign|uncertain significance |
| NM_000061.3(BTK):c.215dup (p.Asn72fs) |
duplication |
X-linked agammaglobulinemia [RCV000781189]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000811748]|not provided [RCV000317789] |
ChrX:101374560..101374561 [GRCh38]
ChrX:100629548..100629549 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.*192G>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000283042]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000342738]|not provided [RCV004713839] |
ChrX:101349693 [GRCh38]
ChrX:100604681 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.-105G>T |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000326670]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000381316] |
ChrX:101386136 [GRCh38]
ChrX:100641124 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.*116A>C |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000407071]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000289032]|not provided [RCV001597128] |
ChrX:101349769 [GRCh38]
ChrX:100604757 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.469C>T (p.Gln157Ter) |
single nucleotide variant |
not provided [RCV000386074] |
ChrX:101362612 [GRCh38]
ChrX:100617600 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.895-10G>A |
single nucleotide variant |
BTK-related disorder [RCV003950309]|X-linked agammaglobulinemia [RCV000405337]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000314569]|not specified [RCV001821126] |
ChrX:101358706 [GRCh38]
ChrX:100613694 [GRCh37]
ChrX:Xq22.1 |
benign|likely benign |
| NM_000061.3(BTK):c.*334T>G |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000318456]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000377727]|not provided [RCV004713838] |
ChrX:101349551 [GRCh38]
ChrX:100604539 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.164C>A (p.Ser55Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000589435] |
ChrX:101374612 [GRCh38]
ChrX:100629600 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 |
copy number gain |
not provided [RCV000488046] |
ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25 |
uncertain significance |
| NM_000061.3(BTK):c.359T>C (p.Leu120Pro) |
single nucleotide variant |
not provided [RCV000523318] |
ChrX:101370030 [GRCh38]
ChrX:100625018 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1978T>G (p.Ter660Gly) |
single nucleotide variant |
not provided [RCV000489889] |
ChrX:101349887 [GRCh38]
ChrX:100604875 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.352del (p.Glu118fs) |
deletion |
not provided [RCV001269533] |
ChrX:101370037 [GRCh38]
ChrX:100625025 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1699G>T (p.Glu567Ter) |
single nucleotide variant |
not provided [RCV001269825] |
ChrX:101353921 [GRCh38]
ChrX:100608909 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.240+7A>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000637058] |
ChrX:101374529 [GRCh38]
ChrX:100629517 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.894+7G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002518002]|not provided [RCV000290503] |
ChrX:101359286 [GRCh38]
ChrX:100614274 [GRCh37]
ChrX:Xq22.1 |
likely benign|uncertain significance |
| NM_000061.3(BTK):c.953C>T (p.Ser318Phe) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000582158] |
ChrX:101358638 [GRCh38]
ChrX:100613626 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1946del (p.Ser649fs) |
deletion |
Autosomal recessive agammaglobulinemia 1 [RCV000584073] |
ChrX:101349919 [GRCh38]
ChrX:100604907 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1630_1631+3delinsGAAA |
indel |
Autosomal recessive agammaglobulinemia 1 [RCV000584147] |
ChrX:101354627..101354631 [GRCh38]
ChrX:100609615..100609619 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1489C>T (p.Gln497Ter) |
single nucleotide variant |
not provided [RCV000598965] |
ChrX:101356129 [GRCh38]
ChrX:100611117 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1706T>C (p.Leu569Pro) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000582836] |
ChrX:101353914 [GRCh38]
ChrX:100608902 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.371G>A (p.Trp124Ter) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000584393]|X-linked agammaglobulinemia [RCV000586376]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003512058] |
ChrX:101370018 [GRCh38]
ChrX:100625006 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.863G>A (p.Arg288Gln) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000584540]|X-linked agammaglobulinemia [RCV001192716]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000690161]|not provided [RCV000657848]|not specified [RCV001001062] |
ChrX:101359324 [GRCh38]
ChrX:100614312 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| Single allele |
duplication |
Syndromic X-linked intellectual disability Lubs type [RCV000768455] |
ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| NM_000061.3(BTK):c.*101del |
deletion |
not provided [RCV000589288] |
ChrX:101349784 [GRCh38]
ChrX:100604772 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1581_1584del (p.Cys527fs) |
deletion |
Autosomal recessive agammaglobulinemia 1 [RCV000582912]|X-linked agammaglobulinemia [RCV002266990]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000637053]|not provided [RCV001008113] |
ChrX:101354677..101354680 [GRCh38]
ChrX:100609665..100609668 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.680del (p.Pro227fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000806263] |
ChrX:101360664 [GRCh38]
ChrX:100615652 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.161del (p.Gly54fs) |
deletion |
Autosomal recessive agammaglobulinemia 1 [RCV000583173] |
ChrX:101374615 [GRCh38]
ChrX:100629603 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1475G>A (p.Arg492His) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000581533]|X-linked agammaglobulinemia [RCV002483556]|X-linked agammaglobulinemia with growth hormone deficiency [RCV002530824] |
ChrX:101356143 [GRCh38]
ChrX:100611131 [GRCh37]
ChrX:Xq22.1 |
likely benign|uncertain significance |
| NM_000061.3(BTK):c.1116G>C (p.Arg372Ser) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000583457] |
ChrX:101357570 [GRCh38]
ChrX:100612558 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.799_806del (p.Asn267fs) |
deletion |
X-linked agammaglobulinemia [RCV000589843] |
ChrX:101360121..101360128 [GRCh38]
ChrX:100615109..100615116 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1567-2A>T |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000583545] |
ChrX:101354696 [GRCh38]
ChrX:100609684 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.141+3_141+6del |
deletion |
Autosomal recessive agammaglobulinemia 1 [RCV000581927] |
ChrX:101375138..101375141 [GRCh38]
ChrX:100630126..100630129 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.435C>A (p.Cys145Ter) |
single nucleotide variant |
Autosomal recessive agammaglobulinemia 1 [RCV000582068] |
ChrX:101362646 [GRCh38]
ChrX:100617634 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.720A>C (p.Glu240Asp) |
single nucleotide variant |
BTK-related disorder [RCV003419941]|X-linked agammaglobulinemia [RCV002272281]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000534777] |
ChrX:101360624 [GRCh38]
ChrX:100615612 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1064T>A (p.Ile355Asn) |
single nucleotide variant |
not provided [RCV000413395] |
ChrX:101358348 [GRCh38]
ChrX:100613336 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1103G>A (p.Gly368Glu) |
single nucleotide variant |
not provided [RCV000414003] |
ChrX:101357583 [GRCh38]
ChrX:100612571 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) |
copy number loss |
See cases [RCV000449461] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 |
copy number loss |
See cases [RCV000449365] |
ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 |
copy number gain |
See cases [RCV000449437] |
ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
See cases [RCV000449330] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 |
copy number loss |
See cases [RCV000446667] |
ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 |
copy number loss |
See cases [RCV000447490] |
ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28 |
pathogenic |
| GRCh37/hg19 Xq22.1-22.2(chrX:99611312-103506684) |
copy number gain |
See cases [RCV000447561] |
ChrX:99611312..103506684 [GRCh37]
ChrX:Xq22.1-22.2 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
See cases [RCV000446932] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 |
copy number gain |
See cases [RCV000446151] |
ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 |
copy number gain |
See cases [RCV000446310] |
ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq22.1(chrX:100598538-100615055)x1 |
copy number loss |
See cases [RCV000446423] |
ChrX:100598538..100615055 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 |
copy number gain |
See cases [RCV000447253] |
ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 |
copy number gain |
See cases [RCV000446270] |
ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 |
copy number loss |
See cases [RCV000446197] |
ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 |
copy number gain |
See cases [RCV000446318] |
ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1 |
pathogenic |
| GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 |
copy number gain |
See cases [RCV000446471] |
ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 |
copy number loss |
See cases [RCV000446712] |
ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.1442G>C (p.Cys481Ser) |
single nucleotide variant |
Malignant lymphoma, large B-cell, diffuse [RCV003318375]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001243610]|not provided [RCV001269707]|not specified [RCV000781188] |
ChrX:101356176 [GRCh38]
ChrX:100611164 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.121G>A (p.Glu41Lys) |
single nucleotide variant |
Agammaglobulinemia [RCV000439020] |
ChrX:101375164 [GRCh38]
ChrX:100630152 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.669T>A (p.Tyr223Ter) |
single nucleotide variant |
not provided [RCV000424404] |
ChrX:101360675 [GRCh38]
ChrX:100615663 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.41C>A (p.Ser14Tyr) |
single nucleotide variant |
not provided [RCV000425259] |
ChrX:101375244 [GRCh38]
ChrX:100630232 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.370T>C (p.Trp124Arg) |
single nucleotide variant |
not provided [RCV000427390] |
ChrX:101370019 [GRCh38]
ChrX:100625007 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1805C>T (p.Thr602Ile) |
single nucleotide variant |
not provided [RCV000432214] |
ChrX:101353297 [GRCh38]
ChrX:100608285 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1580G>C (p.Cys527Ser) |
single nucleotide variant |
not provided [RCV000435923] |
ChrX:101354681 [GRCh38]
ChrX:100609669 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1441T>A (p.Cys481Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001243609]|not provided [RCV001269602] |
ChrX:101356177 [GRCh38]
ChrX:100611165 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided |
| NM_000061.3(BTK):c.1697C>T (p.Pro566Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000798428]|not provided [RCV000438550] |
ChrX:101353923 [GRCh38]
ChrX:100608911 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1823A>G (p.Glu608Gly) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005090771]|not provided [RCV000437470] |
ChrX:101353279 [GRCh38]
ChrX:100608267 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 |
copy number loss |
See cases [RCV000445720] |
ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 |
copy number loss |
See cases [RCV000446026] |
ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 |
copy number gain |
See cases [RCV000448034] |
ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 |
copy number loss |
See cases [RCV000448652] |
ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 |
copy number gain |
See cases [RCV000448394] |
ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 |
copy number loss |
See cases [RCV000448870] |
ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
See cases [RCV000448393] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.903AGG[1] (p.Gly303del) |
microsatellite |
not provided [RCV000481731] |
ChrX:101358683..101358685 [GRCh38]
ChrX:100613671..100613673 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1888A>C (p.Met630Leu) |
single nucleotide variant |
not provided [RCV000484290] |
ChrX:101353214 [GRCh38]
ChrX:100608202 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1185G>A (p.Trp395Ter) |
single nucleotide variant |
not provided [RCV000485824] |
ChrX:101356948 [GRCh38]
ChrX:100611936 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1757T>C (p.Leu586Ser) |
single nucleotide variant |
not provided [RCV000486283] |
ChrX:101353345 [GRCh38]
ChrX:100608333 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NC_000023.11:g.101390479T>C |
single nucleotide variant |
not provided [RCV004713978]|not specified [RCV000456065] |
ChrX:101390479 [GRCh38]
ChrX:100645467 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.894+1G>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV004720259]|X-linked agammaglobulinemia with growth hormone deficiency [RCV002250636]|not provided [RCV000480016] |
ChrX:101359292 [GRCh38]
ChrX:100614280 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 |
copy number loss |
See cases [RCV000510382] |
ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1 |
copy number loss |
See cases [RCV000510419] |
ChrX:168547..112474026 [GRCh37]
ChrX:Xp22.33-q23 |
pathogenic |
| NM_000061.3(BTK):c.1771del (p.Tyr591fs) |
deletion |
not provided [RCV000498434] |
ChrX:101353331 [GRCh38]
ChrX:100608319 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1791A>G (p.Pro597=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001857259]|not specified [RCV000508312] |
ChrX:101353311 [GRCh38]
ChrX:100608299 [GRCh37]
ChrX:Xq22.1 |
likely benign|uncertain significance |
| NM_000061.3(BTK):c.-31+5G>T |
single nucleotide variant |
not provided [RCV000493738] |
ChrX:101386057 [GRCh38]
ChrX:100641045 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1 |
copy number loss |
See cases [RCV000511514] |
ChrX:86776682..114054291 [GRCh37]
ChrX:Xq21.31-23 |
pathogenic|uncertain significance |
| GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 |
copy number loss |
See cases [RCV000511413] |
ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28 |
pathogenic|uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) |
copy number gain |
See cases [RCV000512020] |
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 |
copy number loss |
See cases [RCV000511482] |
ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_000061.3(BTK):c.1780G>A (p.Gly594Arg) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV003150249]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001857258]|not specified [RCV000507546] |
ChrX:101353322 [GRCh38]
ChrX:100608310 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 |
copy number loss |
See cases [RCV000511490] |
ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 |
copy number gain |
See cases [RCV000511787] |
ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 |
copy number loss |
See cases [RCV000510820] |
ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286) |
copy number loss |
See cases [RCV000510947] |
ChrX:74560735..116609286 [GRCh37]
ChrX:Xq13.3-24 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 |
copy number gain |
See cases [RCV000510826] |
ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 |
copy number gain |
See cases [RCV000511307] |
ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000061.3(BTK):c.531T>C (p.Pro177=) |
single nucleotide variant |
BTK-related disorder [RCV003965336]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000637054]|not specified [RCV001797768] |
ChrX:101362230 [GRCh38]
ChrX:100617218 [GRCh37]
ChrX:Xq22.1 |
benign|likely benign |
| NM_000061.3(BTK):c.588+2T>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000587879] |
ChrX:101362171 [GRCh38]
ChrX:100617159 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1492C>G (p.Leu498Val) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000637055] |
ChrX:101356126 [GRCh38]
ChrX:100611114 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1558C>G (p.Arg520Gly) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000637052] |
ChrX:101356060 [GRCh38]
ChrX:100611048 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| GRCh37/hg19 Xq22.1(chrX:99742359-100759773)x3 |
copy number gain |
not provided [RCV000585467] |
ChrX:99742359..100759773 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.46C>T (p.Gln16Ter) |
single nucleotide variant |
not provided [RCV000627328] |
ChrX:101375239 [GRCh38]
ChrX:100630227 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 |
copy number gain |
See cases [RCV000512365] |
ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28 |
uncertain significance |
| GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 |
copy number loss |
See cases [RCV000512372] |
ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 |
copy number gain |
See cases [RCV000512173] |
ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 |
copy number loss |
not provided [RCV000684357] |
ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28 |
pathogenic |
| GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 |
copy number loss |
not provided [RCV000684363] |
ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28 |
pathogenic |
| NM_000061.3(BTK):c.1567-12_1567-9del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000686515]|not provided [RCV001571051] |
ChrX:101354703..101354706 [GRCh38]
ChrX:100609691..100609694 [GRCh37]
ChrX:Xq22.1 |
pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1526T>C (p.Met509Thr) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV003224377]|X-linked agammaglobulinemia [RCV004017718]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000692851] |
ChrX:101356092 [GRCh38]
ChrX:100611080 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.1688G>A (p.Trp563Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000702940] |
ChrX:101353932 [GRCh38]
ChrX:100608920 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1578C>A (p.Asn526Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000700307] |
ChrX:101354683 [GRCh38]
ChrX:100609671 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.278C>A (p.Ser93Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000703916] |
ChrX:101371664 [GRCh38]
ChrX:100626652 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.736G>C (p.Glu246Gln) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000694949] |
ChrX:101360608 [GRCh38]
ChrX:100615596 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.580G>A (p.Glu194Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000696204] |
ChrX:101362181 [GRCh38]
ChrX:100617169 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.390C>T (p.Asn130=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000694646] |
ChrX:101369999 [GRCh38]
ChrX:100624987 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1781G>A (p.Gly594Glu) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001530181] |
ChrX:101353321 [GRCh38]
ChrX:100608309 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 |
copy number loss |
not provided [RCV000753606] |
ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 |
copy number gain |
not provided [RCV000753272] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| Single allele |
duplication |
Autism [RCV000754365] |
ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 |
copy number loss |
not provided [RCV000753271] |
ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 |
copy number loss |
not provided [RCV000753278] |
ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 |
copy number gain |
not provided [RCV000753276] |
ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 |
copy number loss |
not provided [RCV000753556] |
ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 |
copy number gain |
not provided [RCV000753277] |
ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.1349+1G>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001594436]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003512114] |
ChrX:101356783 [GRCh38]
ChrX:100611771 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1 |
copy number loss |
Xq21.32q23 deletion [RCV001579312] |
ChrX:91829757..113050225 [GRCh37]
ChrX:Xq21.32-23 |
pathogenic |
| NM_000061.3(BTK):c.1844G>T (p.Arg615Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001061157] |
ChrX:101353258 [GRCh38]
ChrX:100608246 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.846T>C (p.Tyr282=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002542190] |
ChrX:101359341 [GRCh38]
ChrX:100614329 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1004T>A (p.Val335Asp) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000757938] |
ChrX:101358408 [GRCh38]
ChrX:100613396 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.441del (p.Phe146_Trp147insTer) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001046699] |
ChrX:101362640 [GRCh38]
ChrX:100617628 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1720T>C (p.Phe574Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001046707] |
ChrX:101353900 [GRCh38]
ChrX:100608888 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1868C>T (p.Ser623Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001042408]|not provided [RCV003153903] |
ChrX:101353234 [GRCh38]
ChrX:100608222 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NC_000023.11:g.(?_101362153)_(101362709_?)dup |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001032734] |
ChrX:100617141..100617697 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.11:g.(?_101353174)_(101358716_?)dup |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001033543] |
ChrX:100608162..100613704 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| GRCh37/hg19 Xq22.1(chrX:100183898-100809683)x4 |
copy number gain |
not provided [RCV000996091] |
ChrX:100183898..100809683 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NC_000023.10:g.(?_100604853)_(100604964_?)del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002001581] |
ChrX:100604853..100604964 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.588+1G>T |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000780071]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001039149] |
ChrX:101362172 [GRCh38]
ChrX:100617160 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.176AGA[1] (p.Lys60del) |
microsatellite |
BTK-related disorder [RCV004723169]|X-linked agammaglobulinemia [RCV000780070]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000810868] |
ChrX:101374595..101374597 [GRCh38]
ChrX:100629583..100629585 [GRCh37]
ChrX:Xq22.1 |
pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1138C>T (p.Gln380Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000780074]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001055303] |
ChrX:101357548 [GRCh38]
ChrX:100612536 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.1852A>G (p.Arg618Gly) |
single nucleotide variant |
not specified [RCV000781190] |
ChrX:101353250 [GRCh38]
ChrX:100608238 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.310-8C>A |
single nucleotide variant |
not specified [RCV000781191] |
ChrX:101370087 [GRCh38]
ChrX:100625075 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.655del (p.Val219fs) |
deletion |
X-linked agammaglobulinemia [RCV000780073]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003512079] |
ChrX:101360689 [GRCh38]
ChrX:100615677 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1701A>C (p.Glu567Asp) |
single nucleotide variant |
not provided [RCV000788437] |
ChrX:101353919 [GRCh38]
ChrX:100608907 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.142-205A>G |
single nucleotide variant |
not provided [RCV000788918] |
ChrX:101374839 [GRCh38]
ChrX:100629827 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 |
copy number loss |
not provided [RCV000845672] |
ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV000848828] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.1737C>T (p.Asp579=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001489322] |
ChrX:101353883 [GRCh38]
ChrX:100608871 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1701A>G (p.Glu567=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000898782]|not provided [RCV001702568] |
ChrX:101353919 [GRCh38]
ChrX:100608907 [GRCh37]
ChrX:Xq22.1 |
benign|likely benign |
| NM_000061.3(BTK):c.363G>A (p.Arg121=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001395441] |
ChrX:101370026 [GRCh38]
ChrX:100625014 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.345C>T (p.Ser115=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000893433] |
ChrX:101370044 [GRCh38]
ChrX:100625032 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.63A>G (p.Ser21=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512085] |
ChrX:101375222 [GRCh38]
ChrX:100630210 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.240G>A (p.Pro80=) |
single nucleotide variant |
Inherited Immunodeficiency Diseases [RCV001027548]|X-linked agammaglobulinemia [RCV000780072]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001873186] |
ChrX:101374536 [GRCh38]
ChrX:100629524 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.487del (p.Met163fs) |
deletion |
not provided [RCV003312775] |
ChrX:101362594 [GRCh38]
ChrX:100617582 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1759A>C (p.Met587Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000810388] |
ChrX:101353343 [GRCh38]
ChrX:100608331 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.756G>A (p.Trp252Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000799583] |
ChrX:101360588 [GRCh38]
ChrX:100615576 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1262G>A (p.Trp421Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000816130] |
ChrX:101356871 [GRCh38]
ChrX:100611859 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1697C>G (p.Pro566Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000801257] |
ChrX:101353923 [GRCh38]
ChrX:100608911 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1039G>C (p.Ala347Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000803305] |
ChrX:101358373 [GRCh38]
ChrX:100613361 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.41C>T (p.Ser14Phe) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000795113] |
ChrX:101375244 [GRCh38]
ChrX:100630232 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1751-1G>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000798381] |
ChrX:101353352 [GRCh38]
ChrX:100608340 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1713_1714dup (p.Ser572fs) |
microsatellite |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000801871] |
ChrX:101353905..101353906 [GRCh38]
ChrX:100608893..100608894 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.232C>T (p.Gln78Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000814965] |
ChrX:101374544 [GRCh38]
ChrX:100629532 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1743G>T (p.Trp581Cys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000798798] |
ChrX:101353877 [GRCh38]
ChrX:100608865 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.493T>C (p.Cys165Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000798950] |
ChrX:101362588 [GRCh38]
ChrX:100617576 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1321G>T (p.Glu441Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000813201] |
ChrX:101356812 [GRCh38]
ChrX:100611800 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.270del (p.Glu90fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000795926] |
ChrX:101371672 [GRCh38]
ChrX:100626660 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1513G>T (p.Val505Phe) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000813278] |
ChrX:101356105 [GRCh38]
ChrX:100611093 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.32T>C (p.Leu11Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000806755] |
ChrX:101375253 [GRCh38]
ChrX:100630241 [GRCh37]
ChrX:Xq22.1 |
pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1843C>T (p.Arg615Cys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000812568]|not provided [RCV000788744] |
ChrX:101353259 [GRCh38]
ChrX:100608247 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1573C>G (p.Arg525Gly) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000820887] |
ChrX:101354688 [GRCh38]
ChrX:100609676 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1229C>T (p.Thr410Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000818098] |
ChrX:101356904 [GRCh38]
ChrX:100611892 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 |
copy number gain |
not provided [RCV000846039] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.777-1G>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001796233]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000801814] |
ChrX:101360151 [GRCh38]
ChrX:100615139 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.36G>T (p.Lys12Asn) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000990919] |
ChrX:101375249 [GRCh38]
ChrX:100630237 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1606A>G (p.Lys536Glu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000805943] |
ChrX:101354655 [GRCh38]
ChrX:100609643 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| GRCh37/hg19 Xq22.1(chrX:99858358-100772721)x2 |
copy number gain |
not provided [RCV000846413] |
ChrX:99858358..100772721 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1977C>T (p.Ser659=) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001167164]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001167165] |
ChrX:101349888 [GRCh38]
ChrX:100604876 [GRCh37]
ChrX:Xq22.1 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000061.3(BTK):c.1696C>T (p.Pro566Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000824301] |
ChrX:101353924 [GRCh38]
ChrX:100608912 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.564del (p.Pro190fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000824441] |
ChrX:101362197 [GRCh38]
ChrX:100617185 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1763G>A (p.Trp588Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV000990916]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000799270] |
ChrX:101353339 [GRCh38]
ChrX:100608327 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1349+4A>T |
single nucleotide variant |
not provided [RCV000788272] |
ChrX:101356780 [GRCh38]
ChrX:100611768 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1774T>C (p.Ser592Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000819610] |
ChrX:101353328 [GRCh38]
ChrX:100608316 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1252T>C (p.Tyr418His) |
single nucleotide variant |
BTK-related disorder [RCV003902932]|Common variable immunodeficiency [RCV003768811]|X-linked agammaglobulinemia [RCV000990917]|X-linked agammaglobulinemia with growth hormone deficiency [RCV000914387]|not provided [RCV004704315]|not specified [RCV001818852] |
ChrX:101356881 [GRCh38]
ChrX:100611869 [GRCh37]
ChrX:Xq22.1 |
likely risk allele|benign|likely benign |
| NM_000061.3(BTK):c.1546C>T (p.Gln516Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000799991] |
ChrX:101356072 [GRCh38]
ChrX:100611060 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.163T>C (p.Ser55Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000809057] |
ChrX:101374613 [GRCh38]
ChrX:100629601 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.577G>C (p.Glu193Gln) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000823320] |
ChrX:101362184 [GRCh38]
ChrX:100617172 [GRCh37]
ChrX:Xq22.1 |
likely benign|uncertain significance |
| NM_000061.3(BTK):c.721dup (p.Tyr241fs) |
duplication |
X-linked agammaglobulinemia [RCV000990918]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003512092] |
ChrX:101360622..101360623 [GRCh38]
ChrX:100615610..100615611 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.100G>A (p.Val34Met) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001169612]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001169613]|not provided [RCV003163371] |
ChrX:101375185 [GRCh38]
ChrX:100630173 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.*221G>T |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001165567]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001165566] |
ChrX:101349664 [GRCh38]
ChrX:100604652 [GRCh37]
ChrX:Xq22.1 |
benign |
| GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 |
copy number loss |
not provided [RCV001007322] |
ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_000061.3(BTK):c.1747T>G (p.Phe583Val) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001057292] |
ChrX:101353873 [GRCh38]
ChrX:100608861 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1901G>C (p.Trp634Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001057527] |
ChrX:101353201 [GRCh38]
ChrX:100608189 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 |
copy number loss |
not provided [RCV000846274] |
ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28 |
pathogenic |
| NM_000061.3(BTK):c.895-37_928del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001234551] |
ChrX:101358663..101358733 [GRCh38]
ChrX:100613651..100613721 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.319G>T (p.Asp107Tyr) |
single nucleotide variant |
Inborn genetic diseases [RCV004963225]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001218381]|not specified [RCV004526816] |
ChrX:101370070 [GRCh38]
ChrX:100625058 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 |
copy number loss |
not provided [RCV000848218] |
ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
uncertain significance |
| NM_000061.3(BTK):c.300T>A (p.Tyr100Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001250190] |
ChrX:101371642 [GRCh38]
ChrX:100626630 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.465C>A (p.Cys155Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001212558] |
ChrX:101362616 [GRCh38]
ChrX:100617604 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074) |
copy number gain |
Klinefelter syndrome [RCV003236730] |
ChrX:200855..155240074 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.1178-17C>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003105052] |
ChrX:101356972 [GRCh38]
ChrX:100611960 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.391+251_391+257del |
deletion |
not provided [RCV001641789] |
ChrX:101369741..101369747 [GRCh38]
ChrX:100624729..100624735 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.2(BTK):c.842_844delGGT |
microsatellite |
not provided [RCV001560743] |
ChrX:101359343..101359345 [GRCh38]
ChrX:100614331..100614333 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1909-149dup |
duplication |
not provided [RCV001715811] |
ChrX:101350089..101350090 [GRCh38]
ChrX:100605077..100605078 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.588+172G>A |
single nucleotide variant |
not provided [RCV001534460] |
ChrX:101362001 [GRCh38]
ChrX:100616989 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_001287344.2(BTK):c.72+3927C>T |
single nucleotide variant |
not provided [RCV001659258] |
ChrX:101386551 [GRCh38]
ChrX:100641539 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.310-226G>A |
single nucleotide variant |
not provided [RCV001598129] |
ChrX:101370305 [GRCh38]
ChrX:100625293 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.839+51C>A |
single nucleotide variant |
not provided [RCV001687311] |
ChrX:101360037 [GRCh38]
ChrX:100615025 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1909-134del |
deletion |
not provided [RCV001569751] |
ChrX:101350090 [GRCh38]
ChrX:100605078 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1178-207C>T |
single nucleotide variant |
not provided [RCV001563126] |
ChrX:101357162 [GRCh38]
ChrX:100612150 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1350-176C>T |
single nucleotide variant |
not provided [RCV001694656] |
ChrX:101356444 [GRCh38]
ChrX:100611432 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.310-7G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002544441] |
ChrX:101370086 [GRCh38]
ChrX:100625074 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1590C>T (p.Asn530=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV000908543] |
ChrX:101354671 [GRCh38]
ChrX:100609659 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1746T>C (p.Ala582=) |
single nucleotide variant |
not provided [RCV000961244] |
ChrX:101353874 [GRCh38]
ChrX:100608862 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1164A>G (p.Ala388=) |
single nucleotide variant |
not provided [RCV000941714] |
ChrX:101357522 [GRCh38]
ChrX:100612510 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.521-1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001210457] |
ChrX:101362241 [GRCh38]
ChrX:100617229 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.1350-1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001203420] |
ChrX:101356269 [GRCh38]
ChrX:100611257 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.884T>C (p.Leu295Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001245402] |
ChrX:101359303 [GRCh38]
ChrX:100614291 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1567-2A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001205797] |
ChrX:101354696 [GRCh38]
ChrX:100609684 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.895-1G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001243870] |
ChrX:101358697 [GRCh38]
ChrX:100613685 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1765G>T (p.Glu589Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001209246] |
ChrX:101353337 [GRCh38]
ChrX:100608325 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1176C>T (p.Tyr392=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001209751] |
ChrX:101357510 [GRCh38]
ChrX:100612498 [GRCh37]
ChrX:Xq22.1 |
likely benign|uncertain significance |
| NM_000061.3(BTK):c.895-12T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001197880] |
ChrX:101358708 [GRCh38]
ChrX:100613696 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.573G>A (p.Thr191=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001411346] |
ChrX:101362188 [GRCh38]
ChrX:100617176 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1784dup (p.Met596fs) |
duplication |
X-linked agammaglobulinemia [RCV000990915] |
ChrX:101353317..101353318 [GRCh38]
ChrX:100608305..100608306 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1908+2dup |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002967463] |
ChrX:101353191..101353192 [GRCh38]
ChrX:100608179..100608180 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.839+53A>C |
single nucleotide variant |
not provided [RCV001718396] |
ChrX:101360035 [GRCh38]
ChrX:100615023 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.974+5G>A |
single nucleotide variant |
not provided [RCV001572297] |
ChrX:101358612 [GRCh38]
ChrX:100613600 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.839+53AT[8] |
microsatellite |
not provided [RCV001621665] |
ChrX:101360021..101360022 [GRCh38]
ChrX:100615009..100615010 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.776+78G>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001554074]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001554075]|not provided [RCV001673200] |
ChrX:101360490 [GRCh38]
ChrX:100615478 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.840-262G>A |
single nucleotide variant |
not provided [RCV001710688] |
ChrX:101359609 [GRCh38]
ChrX:100614597 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1908+123del |
deletion |
not provided [RCV001694531] |
ChrX:101353071 [GRCh38]
ChrX:100608059 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.-30-198C>T |
single nucleotide variant |
not provided [RCV001658641] |
ChrX:101375512 [GRCh38]
ChrX:100630500 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.310-124A>G |
single nucleotide variant |
not provided [RCV001659176] |
ChrX:101370203 [GRCh38]
ChrX:100625191 [GRCh37]
ChrX:Xq22.1 |
benign |
| GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 |
copy number loss |
not provided [RCV001007318] |
ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| NM_000061.3(BTK):c.1103-2A>G |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001869427]|X-linked agammaglobulinemia with growth hormone deficiency [RCV002549158]|not specified [RCV001001214] |
ChrX:101357585 [GRCh38]
ChrX:100612573 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.1889T>C (p.Met630Thr) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001194091]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003512109]|not provided [RCV003886487] |
ChrX:101353213 [GRCh38]
ChrX:100608201 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001192717] |
ChrX:101353907 [GRCh38]
ChrX:100608895 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.806del (p.Val269fs) |
deletion |
X-linked agammaglobulinemia [RCV001192718]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001244642]|not provided [RCV001546212] |
ChrX:101360121 [GRCh38]
ChrX:100615109 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.1249A>T (p.Lys417Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001053798] |
ChrX:101356884 [GRCh38]
ChrX:100611872 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.294C>A (p.Phe98Leu) |
single nucleotide variant |
not specified [RCV001175466] |
ChrX:101371648 [GRCh38]
ChrX:100626636 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1908+294del |
deletion |
not provided [RCV001586315] |
ChrX:101352900 [GRCh38]
ChrX:100607888 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.391+251_391+253del |
deletion |
not provided [RCV001711021] |
ChrX:101369745..101369747 [GRCh38]
ChrX:100624733..100624735 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.484_500del (p.Ala162fs) |
deletion |
not specified [RCV001002076] |
ChrX:101362581..101362597 [GRCh38]
ChrX:100617569..100617585 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.-30-162C>A |
single nucleotide variant |
not provided [RCV001587754] |
ChrX:101375476 [GRCh38]
ChrX:100630464 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1632-3C>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001063966] |
ChrX:101353991 [GRCh38]
ChrX:100608979 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.991dup (p.Ile331fs) |
duplication |
X-linked agammaglobulinemia [RCV001614470] |
ChrX:101358420..101358421 [GRCh38]
ChrX:100613408..100613409 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.241-175G>A |
single nucleotide variant |
not provided [RCV001648113] |
ChrX:101371876 [GRCh38]
ChrX:100626864 [GRCh37]
ChrX:Xq22.1 |
benign |
| GRCh37/hg19 Xq22.1(chrX:99910467-100704219)x2 |
copy number gain |
not provided [RCV001007327] |
ChrX:99910467..100704219 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1908+278dup |
duplication |
not provided [RCV001694594] |
ChrX:101352899..101352900 [GRCh38]
ChrX:100607887..100607888 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1358C>T (p.Ser453Phe) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001064611] |
ChrX:101356260 [GRCh38]
ChrX:100611248 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1908+142G>A |
single nucleotide variant |
not provided [RCV001665581] |
ChrX:101353052 [GRCh38]
ChrX:100608040 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.-87C>T |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001169614]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001169615] |
ChrX:101386118 [GRCh38]
ChrX:100641106 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1631+2T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001047903] |
ChrX:101354628 [GRCh38]
ChrX:100609616 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1751G>A (p.Gly584Glu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001062111] |
ChrX:101353351 [GRCh38]
ChrX:100608339 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1580G>A (p.Cys527Tyr) |
single nucleotide variant |
Inherited Immunodeficiency Diseases [RCV001027547] |
ChrX:101354681 [GRCh38]
ChrX:100609669 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.764G>A (p.Arg255Gln) |
single nucleotide variant |
Inherited Immunodeficiency Diseases [RCV001027552] |
ChrX:101360580 [GRCh38]
ChrX:100615568 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.496C>T (p.Gln166Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001230353] |
ChrX:101362585 [GRCh38]
ChrX:100617573 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.-31+1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001212868] |
ChrX:101386061 [GRCh38]
ChrX:100641049 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.3G>A (p.Met1Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001070338] |
ChrX:101375282 [GRCh38]
ChrX:100630270 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.334T>C (p.Tyr112His) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001041939] |
ChrX:101370055 [GRCh38]
ChrX:100625043 [GRCh37]
ChrX:Xq22.1 |
pathogenic|uncertain significance |
| NM_000061.3(BTK):c.980C>T (p.Pro327Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001236999] |
ChrX:101358432 [GRCh38]
ChrX:100613420 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1418T>A (p.Ile473Asn) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001035842] |
ChrX:101356200 [GRCh38]
ChrX:100611188 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.141+5G>C |
single nucleotide variant |
not specified [RCV001174856] |
ChrX:101375139 [GRCh38]
ChrX:100630127 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.82C>T (p.Arg28Cys) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV003984854]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001217971] |
ChrX:101375203 [GRCh38]
ChrX:100630191 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.167T>C (p.Ile56Thr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001235566] |
ChrX:101374609 [GRCh38]
ChrX:100629597 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1328T>C (p.Ile443Thr) |
single nucleotide variant |
BTK-related disorder [RCV003398986]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001231977] |
ChrX:101356805 [GRCh38]
ChrX:100611793 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.837T>A (p.Tyr279Ter) |
single nucleotide variant |
Inherited Immunodeficiency Diseases [RCV001027551] |
ChrX:101360090 [GRCh38]
ChrX:100615078 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1300_1909-813del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001037029] |
ChrX:101350769..101356833 [GRCh38]
ChrX:100605757..100611821 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_001287344.2(BTK):c.63C>T (p.Ser21=) |
single nucleotide variant |
BTK-related disorder [RCV003906143]|not provided [RCV003656152] |
ChrX:101390487 [GRCh38]
ChrX:100645475 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.336C>G (p.Tyr112Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001211890] |
ChrX:101370053 [GRCh38]
ChrX:100625041 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1631+5G>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001064751] |
ChrX:101354625 [GRCh38]
ChrX:100609613 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.867T>A (p.Ser289Arg) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV004726974]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001215240] |
ChrX:101359320 [GRCh38]
ChrX:100614308 [GRCh37]
ChrX:Xq22.1 |
likely benign|uncertain significance |
| NM_000061.3(BTK):c.216T>G (p.Asn72Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001203879] |
ChrX:101374560 [GRCh38]
ChrX:100629548 [GRCh37]
ChrX:Xq22.1 |
likely benign|uncertain significance |
| NM_000061.3(BTK):c.*390G>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001253960]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001253982] |
ChrX:101349495 [GRCh38]
ChrX:100604483 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1 |
copy number loss |
not provided [RCV001259012] |
ChrX:94264404..155233731 [GRCh37]
ChrX:Xq21.33-28 |
pathogenic |
| GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1 |
copy number loss |
See cases [RCV002285075] |
ChrX:77670699..155233731 [GRCh37]
ChrX:Xq21.1-28 |
pathogenic |
| GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1 |
copy number loss |
not provided [RCV001259005] |
ChrX:77514079..127770854 [GRCh37]
ChrX:Xq21.1-25 |
pathogenic |
| GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3 |
copy number gain |
See cases [RCV001263024] |
ChrX:55507789..155198481 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000061.3(BTK):c.1932C>G (p.Phe644Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001352189] |
ChrX:101349933 [GRCh38]
ChrX:100604921 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.367C>T (p.Arg123Trp) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001307025] |
ChrX:101370022 [GRCh38]
ChrX:100625010 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3 |
copy number gain |
not provided [RCV001281359] |
ChrX:56469080..155233731 [GRCh37]
ChrX:Xp11.21-q28 |
pathogenic |
| NM_000061.3(BTK):c.1445T>C (p.Leu482Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001342007] |
ChrX:101356173 [GRCh38]
ChrX:100611161 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1775C>A (p.Ser592Tyr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001298997] |
ChrX:101353327 [GRCh38]
ChrX:100608315 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.134_139del (p.Glu45_Arg46del) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001334183] |
ChrX:101375146..101375151 [GRCh38]
ChrX:100630134..100630139 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.77A>G (p.Lys26Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001374321] |
ChrX:101375208 [GRCh38]
ChrX:100630196 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.233del (p.Gln78fs) |
deletion |
X-linked agammaglobulinemia [RCV001375563] |
ChrX:101374543 [GRCh38]
ChrX:100629531 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1106T>C (p.Leu369Pro) |
single nucleotide variant |
not provided [RCV001311090] |
ChrX:101357580 [GRCh38]
ChrX:100612568 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.934G>C (p.Ala312Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001326510] |
ChrX:101358657 [GRCh38]
ChrX:100613645 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1381dup (p.Tyr461fs) |
duplication |
not provided [RCV001269822] |
ChrX:101356236..101356237 [GRCh38]
ChrX:100611224..100611225 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1922G>A (p.Arg641His) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001386308]|not provided [RCV001269826] |
ChrX:101349943 [GRCh38]
ChrX:100604931 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.241-5T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001414223] |
ChrX:101371706 [GRCh38]
ChrX:100626694 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1864G>C (p.Ala622Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001368905] |
ChrX:101353238 [GRCh38]
ChrX:100608226 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1789C>T (p.Pro597Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001367344]|not provided [RCV001548637] |
ChrX:101353313 [GRCh38]
ChrX:100608301 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1831G>T (p.Ala611Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001474912] |
ChrX:101353271 [GRCh38]
ChrX:100608259 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NC_000023.10:g.(?_100604853)_(100609705_?)del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001385261] |
ChrX:100604853..100609705 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.10:g.(?_100608162)_(100615763_?)del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001385262] |
ChrX:100608162..100615763 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.391+165_391+168del |
microsatellite |
not provided [RCV001536365] |
ChrX:101369830..101369833 [GRCh38]
ChrX:100624818..100624821 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.241-1G>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001391023] |
ChrX:101371702 [GRCh38]
ChrX:100626690 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.520+1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001389175] |
ChrX:101362560 [GRCh38]
ChrX:100617548 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1482G>A (p.Gln494=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001409995] |
ChrX:101356136 [GRCh38]
ChrX:100611124 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1800A>G (p.Arg600=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001405566] |
ChrX:101353302 [GRCh38]
ChrX:100608290 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.62C>A (p.Ser21Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001381525] |
ChrX:101375223 [GRCh38]
ChrX:100630211 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1102G>T (p.Gly368Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001384085] |
ChrX:101358310 [GRCh38]
ChrX:100613298 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1083C>T (p.Tyr361=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001423793] |
ChrX:101358329 [GRCh38]
ChrX:100613317 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1379T>A (p.Leu460Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001384084] |
ChrX:101356239 [GRCh38]
ChrX:100611227 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1 |
copy number loss |
not provided [RCV001537933] |
ChrX:60000..155234966 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.839+194G>C |
single nucleotide variant |
not provided [RCV001535311] |
ChrX:101359894 [GRCh38]
ChrX:100614882 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.83G>T (p.Arg28Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001389176] |
ChrX:101375202 [GRCh38]
ChrX:100630190 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.189T>C (p.Cys63=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001448571] |
ChrX:101374587 [GRCh38]
ChrX:100629575 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1079_1082del (p.Asn360fs) |
deletion |
not provided [RCV001508056] |
ChrX:101358330..101358333 [GRCh38]
ChrX:100613318..100613321 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.839+41CT[7] |
microsatellite |
not provided [RCV001675466] |
ChrX:101360035..101360036 [GRCh38]
ChrX:100615023..100615024 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.6C>T (p.Ala2=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001491074] |
ChrX:101375279 [GRCh38]
ChrX:100630267 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1908+302C>T |
single nucleotide variant |
not provided [RCV001688451] |
ChrX:101352892 [GRCh38]
ChrX:100607880 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1350-6C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001500740] |
ChrX:101356274 [GRCh38]
ChrX:100611262 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1626G>T (p.Leu542=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001434289] |
ChrX:101354635 [GRCh38]
ChrX:100609623 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1276G>A (p.Asp426Asn) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001517354] |
ChrX:101356857 [GRCh38]
ChrX:100611845 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1140A>G (p.Gln380=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001440844] |
ChrX:101357546 [GRCh38]
ChrX:100612534 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1750+10T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001515038] |
ChrX:101353860 [GRCh38]
ChrX:100608848 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1239T>C (p.Phe413=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001430731] |
ChrX:101356894 [GRCh38]
ChrX:100611882 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.609G>A (p.Pro203=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001399091] |
ChrX:101360735 [GRCh38]
ChrX:100615723 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.842G>A (p.Trp281Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV002243532] |
ChrX:101359345 [GRCh38]
ChrX:100614333 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.1176C>A (p.Tyr392Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV002243533]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003093931] |
ChrX:101357510 [GRCh38]
ChrX:100612498 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1880_1883dup (p.Ile629fs) |
duplication |
not provided [RCV001725828] |
ChrX:101353218..101353219 [GRCh38]
ChrX:100608206..100608207 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.10:g.(?_99551275)_(101097764_?)dup |
duplication |
Developmental and epileptic encephalopathy, 9 [RCV003109223]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003119228] |
ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.164dup (p.Ile56fs) |
duplication |
X-linked agammaglobulinemia [RCV002243535] |
ChrX:101374611..101374612 [GRCh38]
ChrX:100629599..100629600 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.126T>A (p.Tyr42Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV002243536] |
ChrX:101375159 [GRCh38]
ChrX:100630147 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xq22.1(chrX:99589130-102138180)x3 |
copy number gain |
not provided [RCV001834163] |
ChrX:99589130..102138180 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.215del (p.Asn72fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512135]|not provided [RCV001784058] |
ChrX:101374561 [GRCh38]
ChrX:100629549 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1938dup (p.Leu647fs) |
duplication |
not provided [RCV001780692] |
ChrX:101349926..101349927 [GRCh38]
ChrX:100604914..100604915 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1716dup (p.Lys573fs) |
duplication |
X-linked agammaglobulinemia [RCV001797968] |
ChrX:101353903..101353904 [GRCh38]
ChrX:100608891..100608892 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1355T>C (p.Leu452Pro) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001795624] |
ChrX:101356263 [GRCh38]
ChrX:100611251 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.589-7T>G |
single nucleotide variant |
not provided [RCV001757003] |
ChrX:101360762 [GRCh38]
ChrX:100615750 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.895-2del |
deletion |
X-linked agammaglobulinemia [RCV001810518] |
ChrX:101358698 [GRCh38]
ChrX:100613686 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.829G>T (p.Glu277Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001822089] |
ChrX:101360098 [GRCh38]
ChrX:100615086 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1469G>A (p.Arg490His) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002024749] |
ChrX:101356149 [GRCh38]
ChrX:100611137 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NC_000023.10:g.(?_99917153)_(100662891_?)dup |
duplication |
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001871045] |
ChrX:99917153..100662891 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1064T>C (p.Ile355Thr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001970547] |
ChrX:101358348 [GRCh38]
ChrX:100613336 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1349+2dup |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001915163] |
ChrX:101356781..101356782 [GRCh38]
ChrX:100611769..100611770 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.349A>C (p.Thr117Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001872231] |
ChrX:101370040 [GRCh38]
ChrX:100625028 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1792T>A (p.Tyr598Asn) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV001824256] |
ChrX:101353310 [GRCh38]
ChrX:100608298 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1391G>T (p.Cys464Phe) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002040896] |
ChrX:101356227 [GRCh38]
ChrX:100611215 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.894+2dup |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001966819] |
ChrX:101359290..101359291 [GRCh38]
ChrX:100614278..100614279 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1730A>C (p.Lys577Thr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001870933] |
ChrX:101353890 [GRCh38]
ChrX:100608878 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.305T>C (p.Phe102Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001910950] |
ChrX:101371637 [GRCh38]
ChrX:100626625 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1563C>G (p.Asp521Glu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002024646] |
ChrX:101356055 [GRCh38]
ChrX:100611043 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 |
copy number gain |
not provided [RCV001829212] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.839+1G>C |
single nucleotide variant |
X-linked agammaglobulinemia [RCV002052261]|X-linked agammaglobulinemia with growth hormone deficiency [RCV002551234] |
ChrX:101360087 [GRCh38]
ChrX:100615075 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1763G>T (p.Trp588Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001984261] |
ChrX:101353339 [GRCh38]
ChrX:100608327 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1931T>C (p.Phe644Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001894119] |
ChrX:101349934 [GRCh38]
ChrX:100604922 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.10:g.(?_100603501)_(100608996_?)del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001936558]|not provided [RCV001967120] |
ChrX:100603501..100608996 [GRCh37]
ChrX:Xq22.1 |
pathogenic|no classifications from unflagged records |
| NM_000061.3(BTK):c.1085A>G (p.His362Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001983050] |
ChrX:101358327 [GRCh38]
ChrX:100613315 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.337G>A (p.Val113Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002022737]|not provided [RCV003738125] |
ChrX:101370052 [GRCh38]
ChrX:100625040 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| GRCh37/hg19 Xq22.1(chrX:100450474-100639625) |
copy number loss |
not specified [RCV002053164] |
ChrX:100450474..100639625 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 |
copy number loss |
not provided [RCV001834509] |
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.1567-117_1604del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002000761] |
ChrX:101354657..101354811 [GRCh38]
ChrX:100609645..100609799 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.240+109C>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002048069] |
ChrX:101374427 [GRCh38]
ChrX:100629415 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1908+1G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002013402] |
ChrX:101353193 [GRCh38]
ChrX:100608181 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1641_1651del (p.Asp548fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002000065] |
ChrX:101353969..101353979 [GRCh38]
ChrX:100608957..100608967 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.282C>G (p.Ile94Met) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001886862] |
ChrX:101371660 [GRCh38]
ChrX:100626648 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1505G>A (p.Cys502Tyr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001958648] |
ChrX:101356113 [GRCh38]
ChrX:100611101 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.974+5G>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002048047] |
ChrX:101358612 [GRCh38]
ChrX:100613600 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.336C>A (p.Tyr112Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001870380] |
ChrX:101370053 [GRCh38]
ChrX:100625041 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.975-1G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001923088] |
ChrX:101358438 [GRCh38]
ChrX:100613426 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.10:g.(?_100604873)_(100630272_?)dup |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001930249] |
ChrX:100604873..100630272 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.894+3A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001867732] |
ChrX:101359290 [GRCh38]
ChrX:100614278 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1535T>C (p.Leu512Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001956174] |
ChrX:101356083 [GRCh38]
ChrX:100611071 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.10:g.(?_99551275)_(100663464_?)del |
deletion |
Rolandic epilepsy, intellectual disability, and speech dyspraxia, X-linked [RCV001970672] |
ChrX:99551275..100663464 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NC_000023.10:g.(?_100629415)_(100630272_?)del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001972523] |
ChrX:100629415..100630272 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.482A>C (p.Asn161Thr) |
single nucleotide variant |
BTK-related disorder [RCV003401908]|X-linked agammaglobulinemia with growth hormone deficiency [RCV001924453] |
ChrX:101362599 [GRCh38]
ChrX:100617587 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1093A>T (p.Asn365Tyr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001981126] |
ChrX:101358319 [GRCh38]
ChrX:100613307 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1631+6T>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001897967] |
ChrX:101354624 [GRCh38]
ChrX:100609612 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.220_221insTCTGGAGGAGG (p.Pro74fs) |
insertion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001994807] |
ChrX:101374555..101374556 [GRCh38]
ChrX:100629543..100629544 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.7G>A (p.Ala3Thr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002016657] |
ChrX:101375278 [GRCh38]
ChrX:100630266 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1399C>T (p.Gln467Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001960621] |
ChrX:101356219 [GRCh38]
ChrX:100611207 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.138dup (p.Gly47fs) |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001972436] |
ChrX:101375146..101375147 [GRCh38]
ChrX:100630134..100630135 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1420dup (p.Thr474fs) |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001906942] |
ChrX:101356197..101356198 [GRCh38]
ChrX:100611185..100611186 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1475G>C (p.Arg492Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001995613] |
ChrX:101356143 [GRCh38]
ChrX:100611131 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1778T>C (p.Leu593Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001900149] |
ChrX:101353324 [GRCh38]
ChrX:100608312 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.595A>T (p.Lys199Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001923105] |
ChrX:101360749 [GRCh38]
ChrX:100615737 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1487A>C (p.Gln496Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001934263] |
ChrX:101356131 [GRCh38]
ChrX:100611119 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.391+1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV001934601] |
ChrX:101369997 [GRCh38]
ChrX:100624985 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1690T>C (p.Ser564Pro) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV002208767] |
ChrX:101353930 [GRCh38]
ChrX:100608918 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1155T>C (p.Pro385=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002168140] |
ChrX:101357531 [GRCh38]
ChrX:100612519 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.520+16G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002092308] |
ChrX:101362545 [GRCh38]
ChrX:100617533 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.885A>C (p.Leu295=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002166221] |
ChrX:101359302 [GRCh38]
ChrX:100614290 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.391+333T>C |
single nucleotide variant |
not provided [RCV002223518] |
ChrX:101369665 [GRCh38]
ChrX:100624653 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.391+19A>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002185688] |
ChrX:101369979 [GRCh38]
ChrX:100624967 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1566+18T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002153359] |
ChrX:101356034 [GRCh38]
ChrX:100611022 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.303C>T (p.Pro101=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002151831] |
ChrX:101371639 [GRCh38]
ChrX:100626627 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1392C>T (p.Cys464=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002195423] |
ChrX:101356226 [GRCh38]
ChrX:100611214 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1104A>G (p.Gly368=) |
single nucleotide variant |
Inborn genetic diseases [RCV004603161]|X-linked agammaglobulinemia with growth hormone deficiency [RCV002215211]|not specified [RCV004700599] |
ChrX:101357582 [GRCh38]
ChrX:100612570 [GRCh37]
ChrX:Xq22.1 |
benign|likely benign |
| NM_000061.3(BTK):c.572C>T (p.Thr191Met) |
single nucleotide variant |
not provided [RCV002224789] |
ChrX:101362189 [GRCh38]
ChrX:100617177 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1103-11C>G |
single nucleotide variant |
X-linked agammaglobulinemia [RCV002494342]|X-linked agammaglobulinemia with growth hormone deficiency [RCV002076471] |
ChrX:101357594 [GRCh38]
ChrX:100612582 [GRCh37]
ChrX:Xq22.1 |
benign|likely benign |
| NM_000061.3(BTK):c.241-16dup |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002094258] |
ChrX:101371716..101371717 [GRCh38]
ChrX:100626704..100626705 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.974+7G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002186835] |
ChrX:101358610 [GRCh38]
ChrX:100613598 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1350-17C>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002151452] |
ChrX:101356285 [GRCh38]
ChrX:100611273 [GRCh37]
ChrX:Xq22.1 |
benign |
| NC_000023.10:g.100564340_100627836del |
deletion |
Deafness dystonia syndrome [RCV002226784] |
ChrX:100564340..100627836 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.10:g.100580141_100619992del |
deletion |
Deafness dystonia syndrome [RCV002226785] |
ChrX:100580141..100619992 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_001287344.2(BTK):c.27G>A (p.Met9Ile) |
single nucleotide variant |
not specified [RCV002247852] |
ChrX:101390523 [GRCh38]
ChrX:100645511 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1245A>T (p.Val415=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002103100] |
ChrX:101356888 [GRCh38]
ChrX:100611876 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.309+17C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002160755] |
ChrX:101371616 [GRCh38]
ChrX:100626604 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.520+13A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002103619] |
ChrX:101362548 [GRCh38]
ChrX:100617536 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.894+15A>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002181105] |
ChrX:101359278 [GRCh38]
ChrX:100614266 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1852A>C (p.Arg618=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002178490] |
ChrX:101353250 [GRCh38]
ChrX:100608238 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1698G>A (p.Pro566=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002082586] |
ChrX:101353922 [GRCh38]
ChrX:100608910 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.521-11T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002119426] |
ChrX:101362251 [GRCh38]
ChrX:100617239 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.625G>T (p.Ala209Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002220883] |
ChrX:101360719 [GRCh38]
ChrX:100615707 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.436T>C (p.Phe146Leu) |
single nucleotide variant |
not specified [RCV004783640] |
ChrX:101362645 [GRCh38]
ChrX:100617633 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3:c.(240+1_241-1)_(391+1_392-1)del |
deletion |
X-linked agammaglobulinemia [RCV004784861] |
|
pathogenic |
| NC_000023.10:g.(?_100601487)_(100662891_?)dup |
duplication |
not provided [RCV003113385] |
ChrX:100601487..100662891 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NC_000023.10:g.(?_99551275)_(101097764_?)del |
deletion |
not provided [RCV003113386] |
ChrX:99551275..101097764 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1602T>G (p.Val534=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003115375] |
ChrX:101354659 [GRCh38]
ChrX:100609647 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.457C>A (p.Leu153Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003115985] |
ChrX:101362624 [GRCh38]
ChrX:100617612 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NC_000023.10:g.(?_100499986)_(100662891_?)del |
deletion |
Fabry disease [RCV003122104] |
ChrX:100499986..100662891 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.10:g.(?_100614261)_(100615763_?)del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003119229] |
ChrX:100614261..100615763 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.10:g.(?_100617141)_(100662891_?)dup |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003119231] |
ChrX:100617141..100662891 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1275C>T (p.Tyr425=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003121116] |
ChrX:101356858 [GRCh38]
ChrX:100611846 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1794T>G (p.Tyr598Ter) |
single nucleotide variant |
not provided [RCV004791089] |
ChrX:101353308 [GRCh38]
ChrX:100608296 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1546_1548del (p.Gln516del) |
deletion |
not provided [RCV004791090] |
ChrX:101356070..101356072 [GRCh38]
ChrX:100611058..100611060 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NC_000023.10:g.100582860_100610076del |
deletion |
Deafness dystonia syndrome [RCV002226786] |
ChrX:100582860..100610076 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.684G>A (p.Met228Ile) |
single nucleotide variant |
not specified [RCV002246910] |
ChrX:101360660 [GRCh38]
ChrX:100615648 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1632-2A>T |
single nucleotide variant |
X-linked agammaglobulinemia [RCV002243534] |
ChrX:101353990 [GRCh38]
ChrX:100608978 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number loss |
Turner syndrome [RCV002280668] |
ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.904G>A (p.Gly302Arg) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV002290390] |
ChrX:101358687 [GRCh38]
ChrX:100613675 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.892G>A (p.Glu298Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003097841]|not provided [RCV002293893] |
ChrX:101359295 [GRCh38]
ChrX:100614283 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.372G>T (p.Trp124Cys) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV002283934] |
ChrX:101370017 [GRCh38]
ChrX:100625005 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1 |
copy number loss |
See cases [RCV002286357] |
ChrX:11522765..155233731 [GRCh37]
ChrX:Xp22.2-q28 |
pathogenic |
| NM_000061.3(BTK):c.1257del (p.Lys420fs) |
deletion |
X-linked agammaglobulinemia [RCV002273124] |
ChrX:101356876 [GRCh38]
ChrX:100611864 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.280del (p.Ile94fs) |
deletion |
X-linked agammaglobulinemia [RCV003236272] |
ChrX:101371662 [GRCh38]
ChrX:100626650 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:1-155270560) |
copy number gain |
46,XX sex reversal 1 [RCV002280665]|Hypotonia [RCV002280667]|Trisomy X syndrome [RCV002280666] |
ChrX:1..155270560 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3 |
copy number gain |
not provided [RCV002291535] |
ChrX:76794355..119282836 [GRCh37]
ChrX:Xq21.1-24 |
pathogenic |
| GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731) |
copy number loss |
Turner syndrome [RCV002280672] |
ChrX:62685885..155233731 [GRCh37]
ChrX:Xq11.1-28 |
pathogenic |
| GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2 |
copy number gain |
Klinefelter syndrome [RCV002282732] |
ChrX:61545..155226048 [GRCh37]
ChrX:Xp22.33-q28 |
pathogenic |
| NM_000061.3(BTK):c.1821_1832del (p.Glu608_Ala611del) |
deletion |
not specified [RCV003151478] |
ChrX:101353270..101353281 [GRCh38]
ChrX:100608258..100608269 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1 |
copy number loss |
not provided [RCV002474518] |
ChrX:93805850..118913329 [GRCh37]
ChrX:Xq21.33-24 |
pathogenic |
| NM_000061.3(BTK):c.998A>C (p.His333Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002299460] |
ChrX:101358414 [GRCh38]
ChrX:100613402 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1834C>T (p.Gln612Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV002319758]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003512147] |
ChrX:101353268 [GRCh38]
ChrX:100608256 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.872C>A (p.Ala291Asp) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002298246] |
ChrX:101359315 [GRCh38]
ChrX:100614303 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.445G>A (p.Asp149Asn) |
single nucleotide variant |
Inborn genetic diseases [RCV002751864] |
ChrX:101362636 [GRCh38]
ChrX:100617624 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1386C>T (p.Gly462=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002690498] |
ChrX:101356232 [GRCh38]
ChrX:100611220 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1431G>A (p.Met477Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002947877] |
ChrX:101356187 [GRCh38]
ChrX:100611175 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1272G>T (p.Gln424His) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002975208] |
ChrX:101356861 [GRCh38]
ChrX:100611849 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.857T>C (p.Met286Thr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002569415]|not provided [RCV002508546] |
ChrX:101359330 [GRCh38]
ChrX:100614318 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1567-9G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002881421] |
ChrX:101354703 [GRCh38]
ChrX:100609691 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.608C>T (p.Pro203Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003033471] |
ChrX:101360736 [GRCh38]
ChrX:100615724 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.907G>A (p.Gly303Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002995426] |
ChrX:101358684 [GRCh38]
ChrX:100613672 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1361A>C (p.His454Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003016643] |
ChrX:101356257 [GRCh38]
ChrX:100611245 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.758_767del (p.Arg253fs) |
deletion |
not provided [RCV002512416] |
ChrX:101360577..101360586 [GRCh38]
ChrX:100615565..100615574 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.536G>T (p.Ser179Ile) |
single nucleotide variant |
Inborn genetic diseases [RCV002778832] |
ChrX:101362225 [GRCh38]
ChrX:100617213 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.839+5_839+6insAGAAATGTATGAGTAAGGCTGACTGTCTTTTCGGACTCAGCCCGCCTGCACCCAGGTGAAATAAACAGCCATGTTGCTCACACAAAGCCTGTNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA |
insertion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003055516] |
ChrX:101360082..101360083 [GRCh38]
ChrX:100615070..100615071 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.839+5G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003021878] |
ChrX:101360083 [GRCh38]
ChrX:100615071 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1556A>C (p.His519Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002889876] |
ChrX:101356062 [GRCh38]
ChrX:100611050 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.532G>A (p.Gly178Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003038252] |
ChrX:101362229 [GRCh38]
ChrX:100617217 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.917T>C (p.Val306Ala) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002690732] |
ChrX:101358674 [GRCh38]
ChrX:100613662 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NC_000023.11:g.101353342_101353352del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002913174] |
ChrX:101353341..101353351 [GRCh38]
ChrX:100608329..100608339 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1144A>G (p.Lys382Glu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003078964] |
ChrX:101357542 [GRCh38]
ChrX:100612530 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1076T>C (p.Ile359Thr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002824000] |
ChrX:101358336 [GRCh38]
ChrX:100613324 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1833C>T (p.Ala611=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003036376] |
ChrX:101353269 [GRCh38]
ChrX:100608257 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.679C>A (p.Pro227Thr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002659440] |
ChrX:101360665 [GRCh38]
ChrX:100615653 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1018C>T (p.Pro340Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003035857] |
ChrX:101358394 [GRCh38]
ChrX:100613382 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.310-8C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002590546] |
ChrX:101370087 [GRCh38]
ChrX:100625075 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.302C>T (p.Pro101Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003054790] |
ChrX:101371640 [GRCh38]
ChrX:100626628 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.624A>C (p.Ala208=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002853024] |
ChrX:101360720 [GRCh38]
ChrX:100615708 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.639A>C (p.Thr213=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002894522] |
ChrX:101360705 [GRCh38]
ChrX:100615693 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.951_952del (p.Ser318fs) |
microsatellite |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003023500] |
ChrX:101358639..101358640 [GRCh38]
ChrX:100613627..100613628 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.309+1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003041467] |
ChrX:101371632 [GRCh38]
ChrX:100626620 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1926del (p.Thr643fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002875709] |
ChrX:101349939 [GRCh38]
ChrX:100604927 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.549_550del (p.Lys183fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002933388] |
ChrX:101362211..101362212 [GRCh38]
ChrX:100617199..100617200 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1537del (p.Glu513fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002872013] |
ChrX:101356081 [GRCh38]
ChrX:100611069 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1819G>A (p.Ala607Thr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002710709] |
ChrX:101353283 [GRCh38]
ChrX:100608271 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.777-16A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002663918] |
ChrX:101360166 [GRCh38]
ChrX:100615154 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1694C>T (p.Pro565Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003041461] |
ChrX:101353926 [GRCh38]
ChrX:100608914 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1632G>T (p.Arg544Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003041463] |
ChrX:101353988 [GRCh38]
ChrX:100608976 [GRCh37]
ChrX:Xq22.1 |
pathogenic|likely pathogenic |
| NM_000061.3(BTK):c.455A>G (p.Tyr152Cys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003041466] |
ChrX:101362626 [GRCh38]
ChrX:100617614 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1053T>C (p.Leu351=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002740619] |
ChrX:101358359 [GRCh38]
ChrX:100613347 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1909-1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002872205] |
ChrX:101349957 [GRCh38]
ChrX:100604945 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1689G>A (p.Trp563Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003041462] |
ChrX:101353931 [GRCh38]
ChrX:100608919 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1630A>G (p.Arg544Gly) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003041464] |
ChrX:101354631 [GRCh38]
ChrX:100609619 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.460T>G (p.Cys154Gly) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003041465] |
ChrX:101362621 [GRCh38]
ChrX:100617609 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.141+1G>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003041468] |
ChrX:101375143 [GRCh38]
ChrX:100630131 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1132T>C (p.Ser378Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002800722] |
ChrX:101357554 [GRCh38]
ChrX:100612542 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1575A>G (p.Arg525=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003040297] |
ChrX:101354686 [GRCh38]
ChrX:100609674 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.402C>A (p.Tyr134Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003025522] |
ChrX:101362679 [GRCh38]
ChrX:100617667 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1177+7C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003025766] |
ChrX:101357502 [GRCh38]
ChrX:100612490 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1624_1625insGCGCCGGCGAGCGCCGCCCGGGAGGCAGCGGCTGGAGGAGCGGACGGGCCCCCCCGGGCCCGAGGGCAACGAGCAGACCCCAGCCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAGTATCTGATTTCGGCC (p.Gly541_Leu542insArgAlaGlyGluArgArgProGlyGlySerGlyTrpArgSerGlyArgAlaProProGlyProArgAlaThrSerArgProGlnProXaaXaaXaaLysLysLysLysLysLysAsnLysValSerAspPheGly) |
insertion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002852757] |
ChrX:101354636..101354637 [GRCh38]
ChrX:100609624..100609625 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.777-17C>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002632986] |
ChrX:101360167 [GRCh38]
ChrX:100615155 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1864del (p.Ala622fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064751] |
ChrX:101353238 [GRCh38]
ChrX:100608226 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1517G>A (p.Cys506Tyr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064757] |
ChrX:101356101 [GRCh38]
ChrX:100611089 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1135C>T (p.Gln379Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064759] |
ChrX:101357551 [GRCh38]
ChrX:100612539 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1567-2A>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064756] |
ChrX:101354696 [GRCh38]
ChrX:100609684 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.188G>C (p.Cys63Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003027209] |
ChrX:101374588 [GRCh38]
ChrX:100629576 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.391G>A (p.Val131Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003046444] |
ChrX:101369998 [GRCh38]
ChrX:100624986 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.908G>A (p.Gly303Asp) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002810354] |
ChrX:101358683 [GRCh38]
ChrX:100613671 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.894+9G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003044174] |
ChrX:101359284 [GRCh38]
ChrX:100614272 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.240+2dup |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002792133] |
ChrX:101374533..101374534 [GRCh38]
ChrX:100629521..100629522 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1692C>T (p.Ser564=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003090848] |
ChrX:101353928 [GRCh38]
ChrX:100608916 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1881_1882del (p.Thr628fs) |
microsatellite |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064750] |
ChrX:101353220..101353221 [GRCh38]
ChrX:100608208..100608209 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1793A>G (p.Tyr598Cys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064753] |
ChrX:101353309 [GRCh38]
ChrX:100608297 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1751-1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064754] |
ChrX:101353352 [GRCh38]
ChrX:100608340 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1745C>T (p.Ala582Val) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064755] |
ChrX:101353875 [GRCh38]
ChrX:100608863 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1171G>T (p.Gly391Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064758] |
ChrX:101357515 [GRCh38]
ChrX:100612503 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.100G>C (p.Val34Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003046447] |
ChrX:101375185 [GRCh38]
ChrX:100630173 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.997C>T (p.His333Tyr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064760] |
ChrX:101358415 [GRCh38]
ChrX:100613403 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.839+4_839+7del |
microsatellite |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003064761] |
ChrX:101360081..101360084 [GRCh38]
ChrX:100615069..100615072 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1751-16T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003062804] |
ChrX:101353367 [GRCh38]
ChrX:100608355 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1553T>G (p.Leu518Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003050635] |
ChrX:101356065 [GRCh38]
ChrX:100611053 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.43del (p.Gln15fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003066347] |
ChrX:101375242 [GRCh38]
ChrX:100630230 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1102+20G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002634151] |
ChrX:101358290 [GRCh38]
ChrX:100613278 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.521-5T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV002607468] |
ChrX:101362245 [GRCh38]
ChrX:100617233 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1751-2A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003050633] |
ChrX:101353353 [GRCh38]
ChrX:100608341 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1725C>A (p.Ser575Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003050634] |
ChrX:101353895 [GRCh38]
ChrX:100608883 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.974+1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003050636] |
ChrX:101358616 [GRCh38]
ChrX:100613604 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.467del (p.Ser156fs) |
deletion |
X-linked agammaglobulinemia [RCV004795788] |
ChrX:101362614 [GRCh38]
ChrX:100617602 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1631+5G>A |
single nucleotide variant |
X-linked agammaglobulinemia [RCV004796504] |
ChrX:101354625 [GRCh38]
ChrX:100609613 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.588+2T>C |
single nucleotide variant |
X-linked agammaglobulinemia [RCV003142242] |
ChrX:101362171 [GRCh38]
ChrX:100617159 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1685G>A (p.Arg562Gln) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV003140461] |
ChrX:101353935 [GRCh38]
ChrX:100608923 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.271C>T (p.Gln91Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV003140473] |
ChrX:101371671 [GRCh38]
ChrX:100626659 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.119_120dup (p.Glu41fs) |
duplication |
X-linked agammaglobulinemia [RCV003326717] |
ChrX:101375164..101375165 [GRCh38]
ChrX:100630152..100630153 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1900T>C (p.Trp634Arg) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV003340928] |
ChrX:101353202 [GRCh38]
ChrX:100608190 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1840del (p.Leu614fs) |
deletion |
not provided [RCV003334328] |
ChrX:101353262 [GRCh38]
ChrX:100608250 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.758G>A (p.Arg253Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625634] |
ChrX:101360586 [GRCh38]
ChrX:100615574 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.573G>T (p.Thr191=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625016] |
ChrX:101362188 [GRCh38]
ChrX:100617176 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1377G>A (p.Gln459=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625303] |
ChrX:101356241 [GRCh38]
ChrX:100611229 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1909-18C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624530] |
ChrX:101349974 [GRCh38]
ChrX:100604962 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1272G>A (p.Gln424=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625335] |
ChrX:101356861 [GRCh38]
ChrX:100611849 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.456_457insACTT (p.Leu153fs) |
insertion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625888] |
ChrX:101362624..101362625 [GRCh38]
ChrX:100617612..100617613 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1752G>C (p.Gly584=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512561] |
ChrX:101353350 [GRCh38]
ChrX:100608338 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1751-17T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003873334] |
ChrX:101353368 [GRCh38]
ChrX:100608356 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.879A>G (p.Gln293=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625352] |
ChrX:101359308 [GRCh38]
ChrX:100614296 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1909-20T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624091] |
ChrX:101349976 [GRCh38]
ChrX:100604964 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.586C>A (p.Gln196Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625370] |
ChrX:101362175 [GRCh38]
ChrX:100617163 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.240+9A>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512539] |
ChrX:101374527 [GRCh38]
ChrX:100629515 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.520+15C>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625087] |
ChrX:101362546 [GRCh38]
ChrX:100617534 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.241-3C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003623978] |
ChrX:101371704 [GRCh38]
ChrX:100626692 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1416C>T (p.Ile472=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624023] |
ChrX:101356202 [GRCh38]
ChrX:100611190 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1378T>C (p.Leu460=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624614] |
ChrX:101356240 [GRCh38]
ChrX:100611228 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.141+12G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003623937] |
ChrX:101375132 [GRCh38]
ChrX:100630120 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1278_1291del (p.Val427fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625122] |
ChrX:101356842..101356855 [GRCh38]
ChrX:100611830..100611843 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1279_1280delinsAA (p.Val427Lys) |
indel |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625123] |
ChrX:101356853..101356854 [GRCh38]
ChrX:100611841..100611842 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1606A>T (p.Lys536Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625402] |
ChrX:101354655 [GRCh38]
ChrX:100609643 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.355G>A (p.Glu119Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625406] |
ChrX:101370034 [GRCh38]
ChrX:100625022 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.379del (p.Gln127fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625409] |
ChrX:101370010 [GRCh38]
ChrX:100624998 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.141+19A>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625440] |
ChrX:101375125 [GRCh38]
ChrX:100630113 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.522C>T (p.Ser174=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624096] |
ChrX:101362239 [GRCh38]
ChrX:100617227 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.589-13C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624113] |
ChrX:101360768 [GRCh38]
ChrX:100615756 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.589-12C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624144] |
ChrX:101360767 [GRCh38]
ChrX:100615755 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1365G>A (p.Glu455=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625661] |
ChrX:101356253 [GRCh38]
ChrX:100611241 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.978C>A (p.Asp326Glu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003873801] |
ChrX:101358434 [GRCh38]
ChrX:100613422 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.840-17G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624159] |
ChrX:101359364 [GRCh38]
ChrX:100614352 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1103-17CT[4] |
microsatellite |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624166] |
ChrX:101357591..101357592 [GRCh38]
ChrX:100612579..100612580 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.593T>C (p.Leu198Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624183] |
ChrX:101360751 [GRCh38]
ChrX:100615739 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.141+16A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624202] |
ChrX:101375128 [GRCh38]
ChrX:100630116 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.392-8T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624657] |
ChrX:101362697 [GRCh38]
ChrX:100617685 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1349+18C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624659] |
ChrX:101356766 [GRCh38]
ChrX:100611754 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1266A>G (p.Arg422=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624663] |
ChrX:101356867 [GRCh38]
ChrX:100611855 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.36G>A (p.Lys12=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624664] |
ChrX:101375249 [GRCh38]
ChrX:100630237 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1662A>C (p.Ser554=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625165] |
ChrX:101353958 [GRCh38]
ChrX:100608946 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.840-3C>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625475] |
ChrX:101359350 [GRCh38]
ChrX:100614338 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1632-11_1632-6del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625727] |
ChrX:101353994..101353999 [GRCh38]
ChrX:100608982..100608987 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.502T>C (p.Leu168=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624705] |
ChrX:101362579 [GRCh38]
ChrX:100617567 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.241-4A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624709] |
ChrX:101371705 [GRCh38]
ChrX:100626693 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.310-19T>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624620] |
ChrX:101370098 [GRCh38]
ChrX:100625086 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1694dup (p.Pro566fs) |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625182] |
ChrX:101353925..101353926 [GRCh38]
ChrX:100608913..100608914 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1197A>G (p.Pro399=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003623980] |
ChrX:101356936 [GRCh38]
ChrX:100611924 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.633C>T (p.Val211=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624737] |
ChrX:101360711 [GRCh38]
ChrX:100615699 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1761G>A (p.Met587Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624738] |
ChrX:101353341 [GRCh38]
ChrX:100608329 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.60A>G (p.Thr20=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624840] |
ChrX:101375225 [GRCh38]
ChrX:100630213 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1822G>A (p.Glu608Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624842] |
ChrX:101353280 [GRCh38]
ChrX:100608268 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1102+7A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624157] |
ChrX:101358303 [GRCh38]
ChrX:100613291 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.776+16C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624255] |
ChrX:101360552 [GRCh38]
ChrX:100615540 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.895-7G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625805] |
ChrX:101358703 [GRCh38]
ChrX:100613691 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.696T>C (p.Asp232=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625809] |
ChrX:101360648 [GRCh38]
ChrX:100615636 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.561T>C (p.Pro187=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624046] |
ChrX:101362200 [GRCh38]
ChrX:100617188 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.397C>A (p.Arg133=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624346] |
ChrX:101362684 [GRCh38]
ChrX:100617672 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.142-16T>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624781] |
ChrX:101374650 [GRCh38]
ChrX:100629638 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1536G>A (p.Leu512=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624562] |
ChrX:101356082 [GRCh38]
ChrX:100611070 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1178-12C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624592] |
ChrX:101356967 [GRCh38]
ChrX:100611955 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.521-5del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625167] |
ChrX:101362245 [GRCh38]
ChrX:100617233 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1750+16T>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625232] |
ChrX:101353854 [GRCh38]
ChrX:100608842 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.588+14C>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625537] |
ChrX:101362159 [GRCh38]
ChrX:100617147 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.953_956del (p.Ser318fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625546] |
ChrX:101358635..101358638 [GRCh38]
ChrX:100613623..100613626 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1559G>T (p.Arg520Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625551] |
ChrX:101356059 [GRCh38]
ChrX:100611047 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.52A>G (p.Lys18Glu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625818] |
ChrX:101375233 [GRCh38]
ChrX:100630221 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NC_000023.11:g.101358697del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625829] |
ChrX:101358694 [GRCh38]
ChrX:100613682 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1178-9T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624177] |
ChrX:101356964 [GRCh38]
ChrX:100611952 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1632-20A>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624179] |
ChrX:101354008 [GRCh38]
ChrX:100608996 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.520+19A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624233] |
ChrX:101362542 [GRCh38]
ChrX:100617530 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1884C>A (p.Thr628=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624801] |
ChrX:101353218 [GRCh38]
ChrX:100608206 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1317A>G (p.Glu439=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624662] |
ChrX:101356816 [GRCh38]
ChrX:100611804 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1103-23_1103-20del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624830] |
ChrX:101357603..101357606 [GRCh38]
ChrX:100612591..100612594 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.286G>T (p.Glu96Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625831] |
ChrX:101371656 [GRCh38]
ChrX:100626644 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1539G>A (p.Glu513=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624252] |
ChrX:101356079 [GRCh38]
ChrX:100611067 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.309+11T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624325] |
ChrX:101371622 [GRCh38]
ChrX:100626610 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.840-8C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624568] |
ChrX:101359355 [GRCh38]
ChrX:100614343 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.234G>A (p.Gln78=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624913] |
ChrX:101374542 [GRCh38]
ChrX:100629530 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.309+13C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624919] |
ChrX:101371620 [GRCh38]
ChrX:100626608 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.241-7A>G |
single nucleotide variant |
BTK-related disorder [RCV003919359]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003624925] |
ChrX:101371708 [GRCh38]
ChrX:100626696 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.839+19G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624931] |
ChrX:101360069 [GRCh38]
ChrX:100615057 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1485T>C (p.Thr495=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624933] |
ChrX:101356133 [GRCh38]
ChrX:100611121 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1751-8C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625268] |
ChrX:101353359 [GRCh38]
ChrX:100608347 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.861T>C (p.Thr287=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625594] |
ChrX:101359326 [GRCh38]
ChrX:100614314 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.37C>A (p.Arg13=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625870] |
ChrX:101375248 [GRCh38]
ChrX:100630236 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1832C>A (p.Ala611Asp) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511585] |
ChrX:101353270 [GRCh38]
ChrX:100608258 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1571C>T (p.Ala524Val) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625277] |
ChrX:101354690 [GRCh38]
ChrX:100609678 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.754del (p.Trp252fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625279] |
ChrX:101360590 [GRCh38]
ChrX:100615578 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1178-8A>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625622] |
ChrX:101356963 [GRCh38]
ChrX:100611951 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.240+8G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511721] |
ChrX:101374528 [GRCh38]
ChrX:100629516 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.521-16G>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003624978] |
ChrX:101362256 [GRCh38]
ChrX:100617244 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1 |
copy number loss |
not provided [RCV003483927] |
ChrX:91274467..126799984 [GRCh37]
ChrX:Xq21.31-25 |
pathogenic |
| GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3 |
copy number gain |
not provided [RCV003485308] |
ChrX:96349060..106950847 [GRCh37]
ChrX:Xq21.33-22.3 |
pathogenic |
| GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3 |
copy number gain |
not provided [RCV003485304] |
ChrX:77212972..118576590 [GRCh37]
ChrX:Xq21.1-24 |
pathogenic |
| NM_000061.3(BTK):c.1922G>C (p.Arg641Pro) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV003479667]|X-linked agammaglobulinemia with growth hormone deficiency [RCV003512230] |
ChrX:101349943 [GRCh38]
ChrX:100604931 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.975-2A>G |
single nucleotide variant |
BTK-related disorder [RCV003412315] |
ChrX:101358439 [GRCh38]
ChrX:100613427 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1780G>C (p.Gly594Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513679] |
ChrX:101353322 [GRCh38]
ChrX:100608310 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1361A>T (p.His454Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513686] |
ChrX:101356257 [GRCh38]
ChrX:100611245 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.895-13T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512582] |
ChrX:101358709 [GRCh38]
ChrX:100613697 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.336C>T (p.Tyr112=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003849213] |
ChrX:101370053 [GRCh38]
ChrX:100625041 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1591G>T (p.Asp531Tyr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512809] |
ChrX:101354670 [GRCh38]
ChrX:100609658 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1111T>C (p.Ser371Pro) |
single nucleotide variant |
not provided [RCV003494103] |
ChrX:101357575 [GRCh38]
ChrX:100612563 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.274del (p.Ile92fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512939] |
ChrX:101371668 [GRCh38]
ChrX:100626656 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1207A>C (p.Thr403Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511715] |
ChrX:101356926 [GRCh38]
ChrX:100611914 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.589-4A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513031] |
ChrX:101360759 [GRCh38]
ChrX:100615747 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1458G>A (p.Leu486=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511915] |
ChrX:101356160 [GRCh38]
ChrX:100611148 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.279A>T (p.Ser93=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513179] |
ChrX:101371663 [GRCh38]
ChrX:100626651 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1909-7G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513353] |
ChrX:101349963 [GRCh38]
ChrX:100604951 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.142-12T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513484] |
ChrX:101374646 [GRCh38]
ChrX:100629634 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1893C>G (p.Tyr631Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513678] |
ChrX:101353209 [GRCh38]
ChrX:100608197 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1361A>G (p.His454Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513687]|not provided [RCV004697302] |
ChrX:101356257 [GRCh38]
ChrX:100611245 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.308A>C (p.Gln103Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513696] |
ChrX:101371634 [GRCh38]
ChrX:100626622 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.895-11C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513738] |
ChrX:101358707 [GRCh38]
ChrX:100613695 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1566+20G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513759] |
ChrX:101356032 [GRCh38]
ChrX:100611020 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1633T>C (p.Tyr545His) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512998] |
ChrX:101353987 [GRCh38]
ChrX:100608975 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.975-4T>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513078] |
ChrX:101358441 [GRCh38]
ChrX:100613429 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.863G>C (p.Arg288Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512306] |
ChrX:101359324 [GRCh38]
ChrX:100614312 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.99C>G (p.Thr33=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512307] |
ChrX:101375186 [GRCh38]
ChrX:100630174 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.239C>T (p.Pro80Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511478] |
ChrX:101374537 [GRCh38]
ChrX:100629525 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1787T>C (p.Met596Thr) |
single nucleotide variant |
Common variable immunodeficiency [RCV003493994]|not provided [RCV004723263] |
ChrX:101353315 [GRCh38]
ChrX:100608303 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1909-17T>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511535] |
ChrX:101349973 [GRCh38]
ChrX:100604961 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.576T>C (p.Pro192=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513359] |
ChrX:101362185 [GRCh38]
ChrX:100617173 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1282G>C (p.Ala428Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003626087] |
ChrX:101356851 [GRCh38]
ChrX:100611839 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1908+7G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511831] |
ChrX:101353187 [GRCh38]
ChrX:100608175 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1350-29A>G |
single nucleotide variant |
not specified [RCV003489125] |
ChrX:101356297 [GRCh38]
ChrX:100611285 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.321T>C (p.Asp107=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513541] |
ChrX:101370068 [GRCh38]
ChrX:100625056 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1011T>C (p.Cys337=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513600] |
ChrX:101358401 [GRCh38]
ChrX:100613389 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.310-5C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625999] |
ChrX:101370084 [GRCh38]
ChrX:100625072 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1239T>G (p.Phe413Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003626005] |
ChrX:101356894 [GRCh38]
ChrX:100611882 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.355del (p.Glu119fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512863] |
ChrX:101370034 [GRCh38]
ChrX:100625022 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1751-1G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513681] |
ChrX:101353352 [GRCh38]
ChrX:100608340 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1750+1G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513682] |
ChrX:101353869 [GRCh38]
ChrX:100608857 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1631G>A (p.Arg544Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513685] |
ChrX:101354630 [GRCh38]
ChrX:100609618 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.778C>T (p.Gln260Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513691] |
ChrX:101360149 [GRCh38]
ChrX:100615137 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.589-17T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512695] |
ChrX:101360772 [GRCh38]
ChrX:100615760 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.911T>G (p.Phe304Cys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003626080]|not provided [RCV004765948] |
ChrX:101358680 [GRCh38]
ChrX:100613668 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.905G>T (p.Gly302Val) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511518] |
ChrX:101358686 [GRCh38]
ChrX:100613674 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.895-2A>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511617] |
ChrX:101358698 [GRCh38]
ChrX:100613686 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.318T>C (p.Tyr106=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511768] |
ChrX:101370071 [GRCh38]
ChrX:100625059 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1762T>C (p.Trp588Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513680] |
ChrX:101353340 [GRCh38]
ChrX:100608328 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic|uncertain significance |
| NM_000061.3(BTK):c.1750+1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513683] |
ChrX:101353869 [GRCh38]
ChrX:100608857 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.957_958del (p.Phe320fs) |
microsatellite |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513689] |
ChrX:101358633..101358634 [GRCh38]
ChrX:100613621..100613622 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.344C>T (p.Ser115Phe) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513695] |
ChrX:101370045 [GRCh38]
ChrX:100625033 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1349+11G>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003626033] |
ChrX:101356773 [GRCh38]
ChrX:100611761 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1664T>C (p.Val555Ala) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003828058] |
ChrX:101353956 [GRCh38]
ChrX:100608944 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1921C>T (p.Arg641Cys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513677] |
ChrX:101349944 [GRCh38]
ChrX:100604932 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1743G>A (p.Trp581Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513684] |
ChrX:101353877 [GRCh38]
ChrX:100608865 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1349+6T>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513688] |
ChrX:101356778 [GRCh38]
ChrX:100611766 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.889C>T (p.Gln297Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513690] |
ChrX:101359298 [GRCh38]
ChrX:100614286 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1751-18A>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513196] |
ChrX:101353369 [GRCh38]
ChrX:100608357 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.588+1G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513692] |
ChrX:101362172 [GRCh38]
ChrX:100617160 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.513dup (p.Asn172fs) |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513693] |
ChrX:101362567..101362568 [GRCh38]
ChrX:100617555..100617556 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.494G>A (p.Cys165Tyr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513694] |
ChrX:101362587 [GRCh38]
ChrX:100617575 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.974+18A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512795] |
ChrX:101358599 [GRCh38]
ChrX:100613587 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.141+13A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512797] |
ChrX:101375131 [GRCh38]
ChrX:100630119 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1350-9T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003879417] |
ChrX:101356277 [GRCh38]
ChrX:100611265 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.444C>A (p.Ile148=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513775] |
ChrX:101362637 [GRCh38]
ChrX:100617625 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.518G>A (p.Gly173Glu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512836] |
ChrX:101362563 [GRCh38]
ChrX:100617551 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1102+13G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513314] |
ChrX:101358297 [GRCh38]
ChrX:100613285 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1610T>C (p.Val537Ala) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512251] |
ChrX:101354651 [GRCh38]
ChrX:100609639 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1284C>T (p.Ala428=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512273] |
ChrX:101356849 [GRCh38]
ChrX:100611837 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.804T>C (p.Tyr268=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003879268] |
ChrX:101360123 [GRCh38]
ChrX:100615111 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.309+8A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512896] |
ChrX:101371625 [GRCh38]
ChrX:100626613 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.303C>G (p.Pro101=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512487] |
ChrX:101371639 [GRCh38]
ChrX:100626627 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1350-4G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512355] |
ChrX:101356272 [GRCh38]
ChrX:100611260 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1535T>G (p.Leu512Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003511540] |
ChrX:101356083 [GRCh38]
ChrX:100611071 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.142-12T>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512551] |
ChrX:101374646 [GRCh38]
ChrX:100629634 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.975-19T>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625918] |
ChrX:101358456 [GRCh38]
ChrX:100613444 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1632-15C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003625916] |
ChrX:101354003 [GRCh38]
ChrX:100608991 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1349+20C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003875881] |
ChrX:101356764 [GRCh38]
ChrX:100611752 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.26T>A (p.Ile9Asn) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003626049] |
ChrX:101375259 [GRCh38]
ChrX:100630247 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1751-18A>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003878762] |
ChrX:101353369 [GRCh38]
ChrX:100608357 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.777-9C>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513584] |
ChrX:101360159 [GRCh38]
ChrX:100615147 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NC_000023.11:g.101353352dup |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003512705] |
ChrX:101353348..101353349 [GRCh38]
ChrX:100608336..100608337 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.-31+6T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513229] |
ChrX:101386056 [GRCh38]
ChrX:100641044 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.142-5del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003513234] |
ChrX:101374639 [GRCh38]
ChrX:100629627 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1387G>A (p.Val463Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003811999] |
ChrX:101356231 [GRCh38]
ChrX:100611219 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.240+12_240+24del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003851546] |
ChrX:101374512..101374524 [GRCh38]
ChrX:100629500..100629512 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.1177+8C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003840343] |
ChrX:101357501 [GRCh38]
ChrX:100612489 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1882A>T (p.Thr628Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003834116] |
ChrX:101353220 [GRCh38]
ChrX:100608208 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.310-20C>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003839889] |
ChrX:101370099 [GRCh38]
ChrX:100625087 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.520+18T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003817556] |
ChrX:101362543 [GRCh38]
ChrX:100617531 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.516T>C (p.Asn172=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003856015] |
ChrX:101362565 [GRCh38]
ChrX:100617553 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.543C>T (p.His181=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003832481] |
ChrX:101362218 [GRCh38]
ChrX:100617206 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.99C>T (p.Thr33=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003837323] |
ChrX:101375186 [GRCh38]
ChrX:100630174 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.240+17G>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003832843] |
ChrX:101374519 [GRCh38]
ChrX:100629507 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.414G>T (p.Leu138=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003858889] |
ChrX:101362667 [GRCh38]
ChrX:100617655 [GRCh37]
ChrX:Xq22.1 |
benign |
| NM_000061.3(BTK):c.258C>T (p.Ser86=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003853038] |
ChrX:101371684 [GRCh38]
ChrX:100626672 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1750+11A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003818384] |
ChrX:101353859 [GRCh38]
ChrX:100608847 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.357A>G (p.Glu119=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003843604] |
ChrX:101370032 [GRCh38]
ChrX:100625020 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.240+15A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003871608] |
ChrX:101374521 [GRCh38]
ChrX:100629509 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1566+7C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003868832] |
ChrX:101356045 [GRCh38]
ChrX:100611033 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081) |
copy number gain |
not specified [RCV003986197] |
ChrX:68040342..100863081 [GRCh37]
ChrX:Xq13.1-22.1 |
pathogenic |
| GRCh37/hg19 Xq22.1(chrX:100439132-100918059) |
copy number gain |
not specified [RCV003986252] |
ChrX:100439132..100918059 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1632-18G>A |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003841652] |
ChrX:101354006 [GRCh38]
ChrX:100608994 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1349+7T>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003871297] |
ChrX:101356777 [GRCh38]
ChrX:100611765 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.974+17C>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003870205] |
ChrX:101358600 [GRCh38]
ChrX:100613588 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1908+18A>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003862526] |
ChrX:101353176 [GRCh38]
ChrX:100608164 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1468C>T (p.Arg490Cys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003860680] |
ChrX:101356150 [GRCh38]
ChrX:100611138 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.150C>A (p.Gly50=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003853334] |
ChrX:101374626 [GRCh38]
ChrX:100629614 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1976_*10del (p.Ser659_Ter660delinsXaa) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003862483] |
ChrX:101349875..101349889 [GRCh38]
ChrX:100604863..100604877 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.142-4T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003857022] |
ChrX:101374638 [GRCh38]
ChrX:100629626 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1524C>T (p.Ala508=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003853669] |
ChrX:101356094 [GRCh38]
ChrX:100611082 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1631+18A>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV003864692] |
ChrX:101354612 [GRCh38]
ChrX:100609600 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1635T>A (p.Tyr545Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV003988730] |
ChrX:101353985 [GRCh38]
ChrX:100608973 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3 |
copy number gain |
not provided [RCV003885530] |
ChrX:67292994..155240074 [GRCh37]
ChrX:Xq12-28 |
pathogenic |
| NM_000061.3(BTK):c.240+105C>T |
single nucleotide variant |
BTK-related disorder [RCV003981610] |
ChrX:101374431 [GRCh38]
ChrX:100629419 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| GRCh37/hg19 Xq22.1(chrX:100604873-100630304)x0 |
copy number loss |
not provided [RCV003885531] |
ChrX:100604873..100630304 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1925C>T (p.Pro642Leu) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV004720581] |
ChrX:101349940 [GRCh38]
ChrX:100604928 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1566_1566+9del |
deletion |
X-linked agammaglobulinemia [RCV003990743] |
ChrX:101356043..101356052 [GRCh38]
ChrX:100611031..100611040 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.451C>T (p.Gln151Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV004547308] |
ChrX:101362630 [GRCh38]
ChrX:100617618 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.449G>A (p.Gly150Glu) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV004547309] |
ChrX:101362632 [GRCh38]
ChrX:100617620 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.463T>G (p.Cys155Gly) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV004577086] |
ChrX:101362618 [GRCh38]
ChrX:100617606 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1278C>T (p.Asp426=) |
single nucleotide variant |
EBV-positive nodal T- and NK-cell lymphoma [RCV004558040] |
ChrX:101356855 [GRCh38]
ChrX:100611843 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NC_000023.10:g.(?_100624966)_(100641212_?)del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV004578098] |
ChrX:100624966..100641212 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.10:g.(?_100604873)_(100667593_?)del |
deletion |
Fabry disease [RCV004582945]|X-linked agammaglobulinemia with growth hormone deficiency [RCV004582946] |
ChrX:100604873..100667593 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NC_000023.10:g.(?_100486637)_(100662891_?)del |
deletion |
not provided [RCV004580612] |
ChrX:100486637..100662891 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1103-2A>C |
single nucleotide variant |
not provided [RCV004575925] |
ChrX:101357585 [GRCh38]
ChrX:100612573 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.310dupG |
duplication |
X-linked agammaglobulinemia [RCV004699984] |
ChrX:101370078..101370079 [GRCh38]
ChrX:100625066..100625067 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1208C>A (p.Thr403Asn) |
single nucleotide variant |
not provided [RCV004575945] |
ChrX:101356925 [GRCh38]
ChrX:100611913 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NC_000023.10:g.(?_100611020)_(100615763_?)del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV004578109] |
ChrX:100611020..100615763 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2 |
copy number gain |
Klinefelter syndrome [RCV004579655] |
ChrX:2757837..156030895 [GRCh38]
ChrX:Xp22.33-q28 |
pathogenic |
| NC_000023.10:g.(?_100604873)_(100604964_?)del |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV004578087] |
ChrX:100604873..100604964 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.717T>A (p.Asp239Glu) |
single nucleotide variant |
Inborn genetic diseases [RCV004604114]|X-linked agammaglobulinemia with growth hormone deficiency [RCV005102106] |
ChrX:101360627 [GRCh38]
ChrX:100615615 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1908+5G>T |
single nucleotide variant |
not specified [RCV004766674] |
ChrX:101353189 [GRCh38]
ChrX:100608177 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.946A>G (p.Thr316Ala) |
single nucleotide variant |
not provided [RCV004810407] |
ChrX:101358645 [GRCh38]
ChrX:100613633 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NC_000023.10:g.(?_54610638)_(154689386_?)dup |
duplication |
Hereditary factor VIII deficiency disease [RCV004768478] |
ChrX:54610638..154689386 [GRCh37]
ChrX:Xp11.22-q28 |
uncertain significance |
| NM_000061.3(BTK):c.1771dup (p.Tyr591fs) |
duplication |
X-linked agammaglobulinemia [RCV004764543] |
ChrX:101353330..101353331 [GRCh38]
ChrX:100608318..100608319 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1513G>A (p.Val505Ile) |
single nucleotide variant |
not specified [RCV004702985] |
ChrX:101356105 [GRCh38]
ChrX:100611093 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3:c.495_(520+1_521-1)del |
deletion |
X-linked agammaglobulinemia [RCV004759555] |
|
pathogenic |
| NM_000061.3(BTK):c.1753G>A (p.Val585Ile) |
single nucleotide variant |
not specified [RCV004766912] |
ChrX:101353349 [GRCh38]
ChrX:100608337 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1426_1430dup (p.Met477fs) |
duplication |
not provided [RCV004729360] |
ChrX:101356187..101356188 [GRCh38]
ChrX:100611175..100611176 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.895-1G>A |
single nucleotide variant |
not provided [RCV004719476] |
ChrX:101358697 [GRCh38]
ChrX:100613685 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| GRCh37/hg19 Xq21.32-26.1(chrX:92712119-129831493)x1 |
copy number loss |
not provided [RCV004819415] |
ChrX:92712119..129831493 [GRCh37]
ChrX:Xq21.32-26.1 |
pathogenic |
| GRCh37/hg19 Xq21.2-22.3(chrX:84607697-104579525)x1 |
copy number loss |
not provided [RCV004819413] |
ChrX:84607697..104579525 [GRCh37]
ChrX:Xq21.2-22.3 |
pathogenic |
| GRCh37/hg19 Xq21.31-23(chrX:91004293-111532472)x1 |
copy number loss |
not provided [RCV004819414] |
ChrX:91004293..111532472 [GRCh37]
ChrX:Xq21.31-23 |
pathogenic |
| NM_000061.3(BTK):c.392-14_392-12del |
microsatellite |
not specified [RCV005088318] |
ChrX:101362701..101362703 [GRCh38]
ChrX:100617689..100617691 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.39A>G (p.Arg13=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005175077] |
ChrX:101375246 [GRCh38]
ChrX:100630234 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.706C>T (p.Arg236Trp) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005175682] |
ChrX:101360638 [GRCh38]
ChrX:100615626 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.520+17A>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005170275] |
ChrX:101362544 [GRCh38]
ChrX:100617532 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.723T>G (p.Tyr241Ter) |
single nucleotide variant |
X-linked agammaglobulinemia [RCV005054505] |
ChrX:101360621 [GRCh38]
ChrX:100615609 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1942C>T (p.Leu648=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005145593] |
ChrX:101349923 [GRCh38]
ChrX:100604911 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1666G>A (p.Gly556Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005066455] |
ChrX:101353954 [GRCh38]
ChrX:100608942 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1517G>T (p.Cys506Phe) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199127] |
ChrX:101356101 [GRCh38]
ChrX:100611089 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.309+8A>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005077370] |
ChrX:101371625 [GRCh38]
ChrX:100626613 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.375_379dup (p.Gln127fs) |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005206015] |
ChrX:101370009..101370010 [GRCh38]
ChrX:100624997..100624998 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.588+5A>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005157538] |
ChrX:101362168 [GRCh38]
ChrX:100617156 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.894+1G>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199132] |
ChrX:101359292 [GRCh38]
ChrX:100614280 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.776+2T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199134] |
ChrX:101360566 [GRCh38]
ChrX:100615554 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1965G>A (p.Met655Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005109445] |
ChrX:101349900 [GRCh38]
ChrX:100604888 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1751-13T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005069550] |
ChrX:101353364 [GRCh38]
ChrX:100608352 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1620C>T (p.Phe540=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005153790] |
ChrX:101354641 [GRCh38]
ChrX:100609629 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1922G>T (p.Arg641Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005133716] |
ChrX:101349943 [GRCh38]
ChrX:100604931 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.492C>A (p.Gly164=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005116119] |
ChrX:101362589 [GRCh38]
ChrX:100617577 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1008G>A (p.Val336=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005069833] |
ChrX:101358404 [GRCh38]
ChrX:100613392 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1540T>A (p.Ser514Thr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005148699] |
ChrX:101356078 [GRCh38]
ChrX:100611066 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.694G>T (p.Asp232Tyr) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005135754] |
ChrX:101360650 [GRCh38]
ChrX:100615638 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.334dup (p.Tyr112fs) |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005133636] |
ChrX:101370054..101370055 [GRCh38]
ChrX:100625042..100625043 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1178-19A>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005142221] |
ChrX:101356974 [GRCh38]
ChrX:100611962 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.294C>T (p.Phe98=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005119730] |
ChrX:101371648 [GRCh38]
ChrX:100626636 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1793A>C (p.Tyr598Ser) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199121] |
ChrX:101353309 [GRCh38]
ChrX:100608297 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1790C>T (p.Pro597Leu) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199122] |
ChrX:101353312 [GRCh38]
ChrX:100608300 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.1349+5G>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199129] |
ChrX:101356779 [GRCh38]
ChrX:100611767 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.588+3A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005203760] |
ChrX:101362170 [GRCh38]
ChrX:100617158 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1295T>A (p.Ile432Asn) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005142823] |
ChrX:101356838 [GRCh38]
ChrX:100611826 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.975-7T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005197280] |
ChrX:101358444 [GRCh38]
ChrX:100613432 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.351T>C (p.Thr117=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005121641] |
ChrX:101370038 [GRCh38]
ChrX:100625026 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1208C>T (p.Thr403Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005134502] |
ChrX:101356925 [GRCh38]
ChrX:100611913 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1777del (p.Leu593fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005181837] |
ChrX:101353325 [GRCh38]
ChrX:100608313 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.974+19A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005207678] |
ChrX:101358598 [GRCh38]
ChrX:100613586 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1311G>A (p.Met437Ile) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005081805] |
ChrX:101356822 [GRCh38]
ChrX:100611810 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.423del (p.Lys141fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005140206] |
ChrX:101362658 [GRCh38]
ChrX:100617646 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.153dup (p.Lys52Ter) |
duplication |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199141] |
ChrX:101374622..101374623 [GRCh38]
ChrX:100629610..100629611 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.31C>A (p.Leu11Met) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005080484] |
ChrX:101375254 [GRCh38]
ChrX:100630242 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1035C>T (p.Tyr345=) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005191636] |
ChrX:101358377 [GRCh38]
ChrX:100613365 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.1632-20A>T |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005148566] |
ChrX:101354008 [GRCh38]
ChrX:100608996 [GRCh37]
ChrX:Xq22.1 |
likely benign |
| NM_000061.3(BTK):c.193G>T (p.Glu65Ter) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005202084] |
ChrX:101374583 [GRCh38]
ChrX:100629571 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1699del (p.Glu567fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199123] |
ChrX:101353921 [GRCh38]
ChrX:100608909 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1578C>G (p.Asn526Lys) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199125] |
ChrX:101354683 [GRCh38]
ChrX:100609671 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.881T>C (p.Leu294Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199133] |
ChrX:101359306 [GRCh38]
ChrX:100614294 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.332T>C (p.Leu111Pro) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199138] |
ChrX:101370057 [GRCh38]
ChrX:100625045 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.232_235del (p.Gln78fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199139] |
ChrX:101374541..101374544 [GRCh38]
ChrX:100629529..100629532 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.182T>A (p.Ile61Asn) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199140] |
ChrX:101374594 [GRCh38]
ChrX:100629582 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1743_1744del (p.Trp581fs) |
deletion |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005128863] |
ChrX:101353876..101353877 [GRCh38]
ChrX:100608864..100608865 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.1072C>T (p.Leu358Phe) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199131] |
ChrX:101358340 [GRCh38]
ChrX:100613328 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.332T>G (p.Leu111Arg) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199137] |
ChrX:101370057 [GRCh38]
ChrX:100625045 [GRCh37]
ChrX:Xq22.1 |
likely pathogenic |
| NM_000061.3(BTK):c.588+4T>C |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005123312] |
ChrX:101362169 [GRCh38]
ChrX:100617157 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1350-2A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005199128] |
ChrX:101356270 [GRCh38]
ChrX:100611258 [GRCh37]
ChrX:Xq22.1 |
pathogenic |
| NM_000061.3(BTK):c.536G>A (p.Ser179Asn) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005109446] |
ChrX:101362225 [GRCh38]
ChrX:100617213 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1491G>C (p.Gln497His) |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005150170] |
ChrX:101356127 [GRCh38]
ChrX:100611115 [GRCh37]
ChrX:Xq22.1 |
uncertain significance |
| NM_000061.3(BTK):c.1908+18A>G |
single nucleotide variant |
X-linked agammaglobulinemia with growth hormone deficiency [RCV005148182] |
ChrX:101353176 [GRCh38]
ChrX:100608164 [GRCh37]
ChrX:Xq22.1 |
likely benign |
