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Links from MedGen

Items: 1 to 100 of 109

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FADD, LOC130006295
Single nucleotide variant
(intron variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD, LOC130006295
Deletion
(intron variant)
FADD-related immunodeficiency
GLikely benign
FADD, LOC130006295
Single nucleotide variant
(intron variant)
FADD-related immunodeficiency
GLikely benign
FADD, LOC130006295
Single nucleotide variant
(intron variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
(M170L)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
(S69F)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
ACTN3, ACY3
+124 more
Duplication
Aicardi-Goutieres syndrome 3
+1 more
GUncertain significance
FADD, LOC130006295
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD, LOC130006295
Single nucleotide variant
(intron variant)
FADD-related immunodeficiency
GLikely benign
FADD
(R117C)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
(W112G)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(H59Y)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(Q181E)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(E139G)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
(N171K)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(K120R)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
(S47T)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
(E37K)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD, LOC130006295
(E95K)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
(S128G)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(intron variant)
FADD-related immunodeficiency
GLikely benign
FADD
(M193T)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(D106N)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD, LOC130006295
Single nucleotide variant
(intron variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(intron variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD, LOC130006295
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
(E206A)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(I129V)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(I104V)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(S208F)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(A183S)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(K110N)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(A202T)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(P195L)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(S18G)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
Single nucleotide variant
(synonymous variant)
FADD-related condition
+1 more
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
(A207V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
(R30P)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(D81Y)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(P3R)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(R184H)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(R140H)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(Y133H)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(N102H)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(A156T)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(E51G)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD, LOC130006295
(E83G)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(S17R)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(I126M)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(S18R)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(R117H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FADD
(E206K)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GLikely benign
FADD
Single nucleotide variant
(synonymous variant)
FADD-related immunodeficiency
GBenign
FADD
(I147V)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(V103I)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(N102K)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
FADD
(V11M)
Single nucleotide variant
(missense variant)
FADD-related immunodeficiency
GUncertain significance
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