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Items: 1 to 100 of 181

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
ABCG4, ACRV1
+774 more
Copy number gain
See cases
GPathogenic
ABCG4, APOA1
+355 more
Copy number gain
See cases
GPathogenic
LOC130007012, LOC130007013
+769 more
Copy number gain
See cases
GPathogenic
LOC126861364, LOC126861365
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
FRA11B, FXYD2
+763 more
Copy number gain
See cases
GPathogenic
ABCG4, ACRV1
+499 more
Copy number gain
See cases
GPathogenic
CD3G, CD3D
Microsatellite
(5 prime UTR variant)
Severe combined immunodeficiency disease
+1 more
GBenign/Likely benign
CD3G
Single nucleotide variant
(5 prime UTR variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
(M1V)
Single nucleotide variant
(missense variant +1 more)
Combined immunodeficiency due to CD3gamma deficiency
GPathogenic
CD3G
(G4V)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
(K5*)
Single nucleotide variant
(nonsense)
Combined immunodeficiency due to CD3gamma deficiency
GPathogenic
CD3G
(G6R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
(I11T)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
(I11M)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CD3G
(A13T)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
(A13V)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
(I14V)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
+1 more
GUncertain significance
CD3G
(I14N)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Indel
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
(G19D)
Single nucleotide variant
(missense variant)
CD3G-related disorder
+2 more
GConflicting classifications of pathogenicity
CD3G
(A22T)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GBenign
CD3G
Deletion
(splice donor variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely pathogenic
CD3G
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
(S24*)
Single nucleotide variant
(nonsense)
Combined immunodeficiency due to CD3gamma deficiency
GPathogenic
CD3G
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GConflicting classifications of pathogenicity
CD3G
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Deletion
Combined immunodeficiency due to CD3gamma deficiency
GPathogenic
CD3G, LOC126861358
(V33A)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
LOC126861358, CD3G
(Y34C)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(Q37*)
Single nucleotide variant
(nonsense)
Combined immunodeficiency due to CD3gamma deficiency
GPathogenic
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
(S41W)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(S41L)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
(L43P)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(C46R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(K51R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(I53T)
Single nucleotide variant
(missense variant)
CD3G-related disorder
+2 more
GConflicting classifications of pathogenicity
CD3G, LOC126861358
(T54I)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
(W55R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(F56L)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(K57T)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
(D58E)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(K60*)
Single nucleotide variant
(nonsense)
Combined immunodeficiency due to CD3gamma deficiency
GPathogenic
CD3G, LOC126861358
(G63S)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
+1 more
GConflicting classifications of pathogenicity
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
(E67K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CD3G, LOC126861358
(W72fs)
Duplication
(frameshift variant)
Combined immunodeficiency due to CD3gamma deficiency
+1 more
GPathogenic/Likely pathogenic
CD3G, LOC126861358
(K71fs)
Deletion
(frameshift variant)
Severe combined immunodeficiency disease
+1 more
GPathogenic/Likely pathogenic
CD3G, LOC126861358
(K69*)
Single nucleotide variant
(nonsense)
Combined immunodeficiency due to CD3gamma deficiency
GPathogenic
CD3G, LOC126861358
(W72R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
LOC126861358, CD3G
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
LOC126861358, CD3G
(G75R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GConflicting classifications of pathogenicity
CD3G, LOC126861358
(R82P)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(R82Q)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(C87R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
(Q91*)
Single nucleotide variant
(nonsense)
Severe combined immunodeficiency disease
GLikely pathogenic
CD3G, LOC126861358
(Q91H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CD3G, LOC126861358
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
(Q98H)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Immunodeficiency due to defect in CD3-gamma
+1 more
GConflicting classifications of pathogenicity
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Deletion
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GLikely benign
CD3G, LOC126861358
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to CD3gamma deficiency
GUncertain significance
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