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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTK
Deletion
(3 prime UTR variant)
not provided
GUncertain significance
BTK
(R465P +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia
+1 more
GConflicting classifications of pathogenicity
BTK
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
BTK
(M454T +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
BTK
(R618G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTK
(Y591* +2 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic/Likely pathogenic
BTK
(V409I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTK
(K397fs +2 more)
Duplication
(frameshift variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(Y395* +2 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(K382fs +2 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(R525Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
BTK
(R520Q +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia
+1 more
GPathogenic
BTK
(V505I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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
(C481S +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
+2 more
GConflicting classifications of pathogenicity
BTK
(Y418H +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia
+3 more
GBenign/Likely benign
BTK
(Q380* +1 more)
Single nucleotide variant
(nonsense +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic
BTK
Single nucleotide variant
(synonymous variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
BTK
(H333R +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GConflicting classifications of pathogenicity
BTK
Single nucleotide variant
(splice acceptor variant)
X-linked agammaglobulinemia
+1 more
GPathogenic/Likely pathogenic
BTK
(R288Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GPathogenic
BTK
Single nucleotide variant
(splice acceptor variant)
X-linked agammaglobulinemia
+1 more
GLikely pathogenic
BTK
(V269fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
BTK
(N301fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
Single nucleotide variant
(splice acceptor variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic/Likely pathogenic
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia
GUncertain significance
BTK
(R255* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
BTK
(W252* +1 more)
Single nucleotide variant
(nonsense)
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
(splice donor variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
Single nucleotide variant
(splice donor variant)
X-linked agammaglobulinemia
+1 more
GPathogenic/Likely pathogenic
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GBenign/Likely benign
BTK
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
BTK
(T158fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
+1 more
GPathogenic
BTK
(F146L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTK
Duplication
(intron variant)
not specified
+1 more
GBenign
BTK
(W124* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic/Likely pathogenic
BTK
(D141Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
BTK
Duplication
(splice acceptor variant)
X-linked agammaglobulinemia
GPathogenic
BTK
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
BTK
(F132L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BTK
(I128fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
GPathogenic
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia
+2 more
GConflicting classifications of pathogenicity
BTK
(Q112fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
(N72fs +1 more)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
BTK
(K94del +1 more)
Microsatellite
(inframe_deletion)
X-linked agammaglobulinemia
+1 more
GPathogenic
BTK
(S55* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GLikely pathogenic
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia
+3 more
GConflicting classifications of pathogenicity
BTK
Single nucleotide variant
(intron variant)
not specified
GUncertain significance
BTK
(Q15* +1 more)
Single nucleotide variant
(nonsense)
Inherited Immunodeficiency Diseases
+2 more
GPathogenic/Likely pathogenic
BTK
(R13* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia
GPathogenic
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