U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGH, IGHM
Single nucleotide variant
Autosomal recessive agammaglobulinemia 1
GBenign
IGH, IGHM
Single nucleotide variant
Autosomal recessive agammaglobulinemia 1
GLikely pathogenic
IGH, IGHM
Duplication
Autosomal recessive agammaglobulinemia 1
GLikely pathogenic
IGH, IGHM
Single nucleotide variant
Autosomal recessive agammaglobulinemia 1
GLikely benign
IGH, IGHM
Single nucleotide variant
Autosomal recessive agammaglobulinemia 1
GBenign
CD79A
(T140I +1 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
+1 more
GUncertain significance
BTK
(S683fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive agammaglobulinemia 1
GPathogenic
BTK
(L569P +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive agammaglobulinemia 1
GPathogenic
BTK
Indel
(splice donor variant)
Autosomal recessive agammaglobulinemia 1
GPathogenic
BTK
(C351fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
BTK
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive agammaglobulinemia 1
GPathogenic
BTK
(R492H +1 more)
Single nucleotide variant
(missense variant +1 more)
X-linked agammaglobulinemia
+1 more
GConflicting classifications of pathogenicity
BTK
(R372S +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive agammaglobulinemia 1
GPathogenic
BTK
(S318F +1 more)
Single nucleotide variant
(missense variant)
Autosomal recessive agammaglobulinemia 1
GPathogenic
BTK
(R288Q +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GPathogenic
BTK
(C145* +1 more)
Single nucleotide variant
(nonsense)
Autosomal recessive agammaglobulinemia 1
GPathogenic
BTK
(W124* +1 more)
Single nucleotide variant
(nonsense)
X-linked agammaglobulinemia with growth hormone deficiency
+1 more
GPathogenic/Likely pathogenic
BTK
(G54fs +1 more)
Deletion
(frameshift variant)
Autosomal recessive agammaglobulinemia 1
GPathogenic
BTK
Deletion
(splice donor variant)
Autosomal recessive agammaglobulinemia 1
GPathogenic
IGH, IGHM
Single nucleotide variant
not provided
+1 more
GBenign
IGH, IGHM
Single nucleotide variant
Autosomal recessive agammaglobulinemia 1
GBenign
IGH, IGHM
Single nucleotide variant
Autosomal recessive agammaglobulinemia 1
GPathogenic
IGH, IGHM
Single nucleotide variant
Autosomal recessive agammaglobulinemia 1
GPathogenic
IGH, IGHM
Single nucleotide variant
Autosomal recessive agammaglobulinemia 1
GPathogenic
IGH, IGHM
Deletion
Autosomal recessive agammaglobulinemia 1
GPathogenic
IGH, IGHM
Single nucleotide variant
Autosomal recessive agammaglobulinemia 1
GPathogenic
IGHM
Deletion
Autosomal recessive agammaglobulinemia 1
GPathogenic
BTK
(R562W +2 more)
Single nucleotide variant
(missense variant)
X-linked agammaglobulinemia with growth hormone deficiency
GPathogenic
BTK
(R520* +1 more)
Single nucleotide variant
(nonsense +1 more)
X-linked agammaglobulinemia with growth hormone deficiency
+2 more
GPathogenic
BTK
(R255* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
BTK
(R28H +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic
BTK
(R525Q +2 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
Format
Items per page
Sort by
Choose Destination