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Items: 1 to 100 of 370

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MALT1
Indel
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(V231A)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(L567P +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(R708* +1 more)
Single nucleotide variant
(nonsense)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Deletion
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Duplication
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GBenign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
LOC130062586, MALT1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Duplication
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GBenign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(E313G)
Single nucleotide variant
(missense variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
LOC130062586, MALT1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Deletion
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GBenign
MALT1
(R507fs +1 more)
Deletion
(frameshift variant)
Combined immunodeficiency due to MALT1 deficiency
GPathogenic
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(F198fs)
Deletion
(frameshift variant)
Combined immunodeficiency due to MALT1 deficiency
GPathogenic
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(splice donor variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely pathogenic
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
LOC130062586, MALT1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
LOC130062586, MALT1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
LOC130062586, MALT1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
LOC130062586, MALT1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
ALPK2, ATP8B1
+14 more
Duplication
not provided
GUncertain significance
MALT1
(V277M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MALT1
Deletion
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Duplication
(intron variant)
MALT1-related disorder
+1 more
GBenign/Likely benign
MALT1
(R343W +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Deletion
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
LOC130062586, MALT1
+1 more
(A28S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(C676S +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(V395A +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
+1 more
GUncertain significance
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(H181R)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(K665E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(F635L +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
LOC130062586, MALT1
+1 more
(L8P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(E437G +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
LOC130062586, MALT1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(R576W +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(K379T +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
LOC130062586, MALT1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(S776fs +1 more)
Deletion
(frameshift variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Deletion
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
LOC130062586, MALT1
+1 more
(S14L)
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Single nucleotide variant
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(V442I +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
LOC130062586, MALT1
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(Q491* +1 more)
Single nucleotide variant
(nonsense)
Combined immunodeficiency due to MALT1 deficiency
GPathogenic
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
+1 more
GConflicting classifications of pathogenicity
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(A630T +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(M579V +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(R392C +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(N421S +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(Y470H +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(V353M +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(S765N +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Deletion
(intron variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
(F409I +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
(M340R +1 more)
Single nucleotide variant
(missense variant)
Combined immunodeficiency due to MALT1 deficiency
GUncertain significance
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
MALT1
Single nucleotide variant
(synonymous variant)
Combined immunodeficiency due to MALT1 deficiency
GLikely benign
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