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Links from MedGen

Items: 1 to 100 of 536

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GUncertain significance
BTK
(S156fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic
BTK
Deletion
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
BTK
Deletion
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
BTK
Deletion
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
HNRNPH2, BTK
+3 more
Deletion
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(D326E +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Deletion
(stop lost)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(R524C +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Deletion
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(synonymous variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(T628S +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(V379A +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(V497I +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(L198S +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Microsatellite
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GBenign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(A428P +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
(F304C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
BTK
(I43N +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(F413L +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(L153fs +1 more)
Insertion
(frameshift variant)
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(E130* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
BTK
Deletion
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
BTK
(K52E +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Deletion
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(synonymous variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(R287K +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(R554L +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
(S318fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(intron variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
(Q127fs +1 more)
Deletion
(frameshift variant)
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
BTK
(E153K +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
(K360* +2 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
BTK
(Q230K +1 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
GUncertain significance
BTK
Single nucleotide variant
(synonymous variant)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
BTK
Single nucleotide variant
(synonymous variant +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
GLikely benign
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