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Links from MedGen

Items: 1 to 100 of 143

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTK
(G150E +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GUncertain significance
BTK
(Q151* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
Deletion
(splice donor variant +1 more)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(Y369* +2 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(R465P +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GConflicting classifications of pathogenicity
BTK
(W458R +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GUncertain significance
BTK
(I128fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(E41fs +1 more)
Duplication
(frameshift variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
Single nucleotide variant
(splice donor variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(Q125* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GPathogenic
BTK
(R386Q +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(Q436* +2 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
+1 more
GPathogenic
BTK
(G302R +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(W124C +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(K420fs +1 more)
Deletion
(frameshift variant +1 more)
X-linked agammaglobulinemia
GPathogenic
BTK
(Y42* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GPathogenic
BTK
(I56fs +1 more)
Duplication
(frameshift variant)
X-linked agammaglobulinemia
GPathogenic
BTK
Single nucleotide variant
(splice acceptor variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(Y392* +1 more)
Single nucleotide variant
(nonsense +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
BTK
(W281* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(S388P +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
+1 more
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia
+1 more
GBenign/Likely benign
BTK
Single nucleotide variant
(splice donor variant)
X-linked agammaglobulinemia
+1 more
GLikely pathogenic
BTK
(Y422N +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(E277* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GPathogenic
BTK
Deletion
(splice acceptor variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(K397fs +2 more)
Duplication
(frameshift variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(L452P +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(I331fs +1 more)
Duplication
(frameshift variant)
X-linked agammaglobulinemia
GPathogenic
BTK
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
BTK
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
BTK
(G418E +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(Q112fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
Single nucleotide variant
(splice donor variant +1 more)
X-linked agammaglobulinemia
+1 more
GPathogenic
BTK
Single nucleotide variant
(3 prime UTR variant)
X-linked agammaglobulinemia
+1 more
GUncertain significance
BTK
(Y100* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GPathogenic
BTK
(R28C +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
+1 more
GPathogenic
BTK
(M454T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
BTK
(V269fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
+2 more
GPathogenic/Likely pathogenic
BTK
(Y395* +2 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
Single nucleotide variant
(5 prime UTR variant +1 more)
X-linked agammaglobulinemia
+1 more
GUncertain significance
BTK
(V34M +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GConflicting classifications of pathogenicity
BTK
Single nucleotide variant
(3 prime UTR variant)
X-linked agammaglobulinemia
+1 more
GBenign
COL4A3, MFF-DT
(G520D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
BTK
Single nucleotide variant
(splice acceptor variant +1 more)
not specified
+1 more
GPathogenic/Likely pathogenic
BTK
(K12N +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(Y241fs +1 more)
Duplication
(frameshift variant)
X-linked agammaglobulinemia
+1 more
GPathogenic
BTK
(M630fs +2 more)
Duplication
(frameshift variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(Y418H +1 more)
Single nucleotide variant
(missense variant +1 more)
BTK-related condition
+3 more
GBenign/Likely benign
BTK
Single nucleotide variant
(splice acceptor variant)
X-linked agammaglobulinemia
+1 more
GPathogenic/Likely pathogenic
BTK
(W588* +2 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
+1 more
GPathogenic
BTK
(Q380* +1 more)
Single nucleotide variant
(nonsense +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic
BTK
(V219fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic
BTK
Single nucleotide variant
(synonymous variant)
Inherited Immunodeficiency Diseases
+2 more
GConflicting classifications of pathogenicity
BTK
Single nucleotide variant
(splice donor variant)
X-linked agammaglobulinemia
+1 more
GPathogenic/Likely pathogenic
BTK
(K94del +1 more)
Microsatellite
(inframe_deletion)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic
BTK
(V335D +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(M509T +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia
+1 more
GPathogenic/Likely pathogenic
BTK
(I243fs +1 more)
Duplication
(frameshift variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(N301fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
Single nucleotide variant
(splice donor variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(S55* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(C351fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
BTK
(R492H +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia
+1 more
GConflicting classifications of pathogenicity
BTK
(R288Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GPathogenic
BTK
(W124* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic/Likely pathogenic
BTK
(E240D +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
+2 more
GUncertain significance
BTK
(G594R +2 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GPathogenic
BTK
Single nucleotide variant
(5 prime UTR variant +1 more)
X-linked agammaglobulinemia
+1 more
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia
+2 more
GConflicting classifications of pathogenicity
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GConflicting classifications of pathogenicity
BTK
Single nucleotide variant
(intron variant)
BTK-related condition
+3 more
GBenign/Likely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia
+2 more
GBenign
BTK
Single nucleotide variant
(3 prime UTR variant)
X-linked agammaglobulinemia with growth hormone deficiency
+2 more
GBenign
BTK
Single nucleotide variant
(3 prime UTR variant)
X-linked agammaglobulinemia
+1 more
GBenign
BTK
Single nucleotide variant
(3 prime UTR variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GBenign
BTK
Single nucleotide variant
(3 prime UTR variant)
X-linked agammaglobulinemia
+1 more
GUncertain significance
BTK
Microsatellite
(3 prime UTR variant)
X-linked agammaglobulinemia
+1 more
GLikely benign
BTK
(E205D +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
BTK
(N72fs +1 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
BTK
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
+3 more
GConflicting classifications of pathogenicity
BTK
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
BTK
(H333R +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
+1 more
GConflicting classifications of pathogenicity
BTK
Single nucleotide variant
(splice acceptor variant)
X-linked agammaglobulinemia
+1 more
GPathogenic/Likely pathogenic
BTK
Single nucleotide variant
(splice acceptor variant)
X-linked agammaglobulinemia
+1 more
GLikely pathogenic
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia
GUncertain significance
BTK
Single nucleotide variant
(splice acceptor variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic/Likely pathogenic
BTK
(T158fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
+1 more
GPathogenic
BTK
(K382fs +2 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(D504V +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(Y485* +1 more)
Single nucleotide variant
(nonsense +1 more)
X-linked agammaglobulinemia
GPathogenic
BTK
Deletion
(splice acceptor variant +1 more)
X-linked agammaglobulinemia
GPathogenic
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(S214fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
GPathogenic
BTK
(R562P +2 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
BTK
Insertion
X-linked agammaglobulinemia
GPathogenic
BTK
(L652P +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
GPathogenic
BTK
Insertion
(nonsense)
X-linked agammaglobulinemia
GPathogenic
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