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Items: 1 to 100 of 163

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD8, ACP5
+2135 more
Copy number gain
See cases
GPathogenic
ACP7, ACTMAP
+514 more
Copy number gain
See cases
GPathogenic
LOC130064626, LOC130064627
+215 more
Duplication
Schizophrenia
GLikely pathogenic
CD79A
(G3A)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(P5S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(A10T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(S22T)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(intron variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(intron variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(intron variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(intron variant)
not provided
GBenign
CD79A
Single nucleotide variant
(intron variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Deletion
Agammaglobulinemia 3, autosomal recessive
GPathogenic
CD79A
Single nucleotide variant
(intron variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(G27V)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant)
CD79A-related disorder
+1 more
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
CD79A-related disorder
+1 more
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(M43K)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(S45T)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(L46P)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(P55L)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(N60S)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(N61I)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
+1 more
GLikely benign
CD79A
(A62T)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(N63I)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(N63S)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(V64I)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(W66*)
Single nucleotide variant
(nonsense)
Agammaglobulinemia 3, autosomal recessive
GPathogenic
CD79A
(R68C)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(R68H)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
+1 more
GConflicting classifications of pathogenicity
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(T75M)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(T75K)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(L81S)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(E85K)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(D86E)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(P87S)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(N88S)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(T90M)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(intron variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(G101R)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(I103M)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(Y104H)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
CD79A
(V105M)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
+1 more
GUncertain significance
CD79A
(R107Q)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(V108G)
Single nucleotide variant
(missense variant +1 more)
Inherited Immunodeficiency Diseases
GPathogenic
CD79A
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(N112S)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(E113G)
Single nucleotide variant
(intron variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(S114L)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(G120S)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(R124C)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
+1 more
GUncertain significance
CD79A
(R124H)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(V125M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
CD79A
(V125G)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(R126H)
Single nucleotide variant
(missense variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(splice donor variant +1 more)
Agammaglobulinemia 3, autosomal recessive
GLikely pathogenic
CD79A
Single nucleotide variant
(intron variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(intron variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Duplication
(intron variant)
Agammaglobulinemia 3, autosomal recessive
GBenign
CD79A
Single nucleotide variant
(intron variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(intron variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(splice acceptor variant)
Agammaglobulinemia 3, autosomal recessive
GPathogenic
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(P94T +1 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(P94L +1 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(G101D +1 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(T140I +1 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
+1 more
GUncertain significance
CD79A
(T140N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
(R143Q +1 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(E148K +1 more)
Single nucleotide variant
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
CD79A
(I151T +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CD79A
Single nucleotide variant
(synonymous variant)
Agammaglobulinemia 3, autosomal recessive
GLikely benign
CD79A
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CD79A
(C155L +1 more)
Indel
(missense variant)
Agammaglobulinemia 3, autosomal recessive
GUncertain significance
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