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Links from MedGen

Items: 43

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CARD11
(S775L)
Single nucleotide variant
(missense variant)
Immunodeficiency 11b with atopic dermatitis
GLikely pathogenic
CARD11, CARD11-AS1
(E96K)
Single nucleotide variant
(missense variant)
Immunodeficiency 11b with atopic dermatitis
GUncertain significance
CARD11
(T43R)
Single nucleotide variant
(missense variant)
Immunodeficiency 11b with atopic dermatitis
GLikely pathogenic
CARD11, CARD11-AS1
Duplication
(inframe_insertion)
Immunodeficiency 11b with atopic dermatitis
GPathogenic
CARD11
(K1029R)
Single nucleotide variant
(missense variant)
Immunodeficiency 11b with atopic dermatitis
+2 more
GUncertain significance
CARD11
(A790T)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARD11 deficiency
+1 more
GLikely benign
CARD11
Single nucleotide variant
(intron variant)
Immunodeficiency 11b with atopic dermatitis
+2 more
GUncertain significance
CARD11
Single nucleotide variant
(intron variant)
BENTA disease
+3 more
GBenign
CARD11
Single nucleotide variant
(intron variant)
BENTA disease
+3 more
GBenign
CARD11, CARD11-AS1
Single nucleotide variant
(splice donor variant)
BENTA disease
+1 more
GPathogenic
CARD11
(R72L)
Single nucleotide variant
(missense variant)
Immunodeficiency 11b with atopic dermatitis
GLikely pathogenic
CARD11
(T43M)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
CARD11, CARD11-AS1
(G126D)
Single nucleotide variant
(missense variant)
BENTA disease
+2 more
GLikely pathogenic
CARD11
Single nucleotide variant
(intron variant)
BENTA disease
+4 more
GBenign
CARD11, CARD11-AS1
(R75W)
Single nucleotide variant
(missense variant)
Immunodeficiency 11b with atopic dermatitis
+2 more
GConflicting classifications of pathogenicity
CARD11
(R688Q)
Single nucleotide variant
(missense variant)
BENTA disease
+2 more
GUncertain significance
CARD11
(V747I)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARD11 deficiency
+2 more
GConflicting classifications of pathogenicity
CARD11
(R967C)
Single nucleotide variant
(missense variant)
Immunodeficiency 11b with atopic dermatitis
+2 more
GConflicting classifications of pathogenicity
CARD11
(M1I)
Single nucleotide variant
(missense variant +1 more)
Severe combined immunodeficiency due to CARD11 deficiency
+1 more
GUncertain significance
CARD11
(V1128I)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARD11 deficiency
+2 more
GConflicting classifications of pathogenicity
CARD11
(R974C)
Single nucleotide variant
(missense variant)
CARD11-related disorder
+4 more
GConflicting classifications of pathogenicity
CARD11
(D58G)
Single nucleotide variant
(missense variant)
BENTA disease
+1 more
GUncertain significance
CARD11
Single nucleotide variant
(synonymous variant)
BENTA disease
+3 more
GBenign/Likely benign
CARD11
(P64R)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARD11 deficiency
+1 more
GUncertain significance
CARD11
(V60E)
Single nucleotide variant
(missense variant)
BENTA disease
+1 more
GUncertain significance
CARD11
(P261S)
Single nucleotide variant
(missense variant)
BENTA disease
+2 more
GUncertain significance
CARD11
Single nucleotide variant
(intron variant)
Immunodeficiency 11b with atopic dermatitis
+2 more
GUncertain significance
CARD11
(A817T)
Single nucleotide variant
(missense variant)
Immunodeficiency 11b with atopic dermatitis
+2 more
GConflicting classifications of pathogenicity
CARD11
(R912Q)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARD11 deficiency
+3 more
GConflicting classifications of pathogenicity
CARD11
(R379Q)
Single nucleotide variant
(missense variant)
BENTA disease
+2 more
GUncertain significance
CARD11
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CARD11 deficiency
+2 more
GConflicting classifications of pathogenicity
CARD11
Single nucleotide variant
(splice donor variant)
BENTA disease
+2 more
GConflicting classifications of pathogenicity
CARD11
(R30W)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARD11 deficiency
+2 more
GPathogenic
CARD11
Duplication
Immunodeficiency 11b with atopic dermatitis
GPathogenic
CARD11
Variation
Immunodeficiency 11b with atopic dermatitis
GPathogenic
CARD11
Variation
Immunodeficiency 11b with atopic dermatitis
GPathogenic
CARD11
(R975W)
Single nucleotide variant
(missense variant)
BENTA disease
+2 more
GConflicting classifications of pathogenicity
CARD11
Single nucleotide variant
(synonymous variant)
BENTA disease
+3 more
GBenign
CARD11
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign
CARD11
Single nucleotide variant
(intron variant)
BENTA disease
+4 more
GBenign
CARD11
Single nucleotide variant
(synonymous variant)
BENTA disease
+3 more
GBenign
CARD11
(D1152N)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARD11 deficiency
+2 more
GLikely benign
CARD11
(R707C)
Single nucleotide variant
(missense variant)
BENTA disease
+3 more
GConflicting classifications of pathogenicity
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