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Links from MedGen

Items: 1 to 100 of 274

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NFKBIA
(E55D)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(E300A)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(A158G)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055494, NFKBIA
(R140Q)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055497, NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(G62S)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
LOC130055494, NFKBIA
(E125Q)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(T316M)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(V199M)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(R218Q)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(R53H)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(L176P)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(V199L)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
LOC130055494, NFKBIA
(P147T)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055497, NFKBIA
(M1T)
Single nucleotide variant
(missense variant +1 more)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(L101M)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(S262C)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(H84Q)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055494, NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(L280V)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055497, NFKBIA
(L25P)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(G62D)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(D231E)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA, LOC130055494
(N122K)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Deletion
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GBenign
NFKBIA
(C167R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(R260H)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055494, NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(N229D)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
LOC130055497, NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(L70V)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(Q154R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(P281T)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
+1 more
GUncertain significance
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
LOC130055494, NFKBIA
(L131R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(Y195C)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GPathogenic
LOC130055497, NFKBIA
(E10*)
Single nucleotide variant
(nonsense)
Ectodermal dysplasia and immunodeficiency 2
GPathogenic
BAZ1A, CFL2
+6 more
Deletion
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(L104F)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(E294D)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
+1 more
GUncertain significance
LOC130055494, NFKBIA
(R140P)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(I175M)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(G194D)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055497, NFKBIA
(G15D)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(N276D)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055497, NFKBIA
(R7C)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
LOC130055497, NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(E302K)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(S283N)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
+1 more
GUncertain significance
NFKBIA
(P170L)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
+1 more
GUncertain significance
NFKBIA
(Y251C)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(V160L)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055496, NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(A158V)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(P230A)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(I198V)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055494, NFKBIA
(P137fs)
Deletion
(frameshift variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(T179I)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055494, NFKBIA
(R143Q)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(T169I)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(S288G)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
(E51K)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GBenign
LOC130055496, NFKBIA
Single nucleotide variant
(intron variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
LOC130055494, NFKBIA
(L139R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
LOC130055497, NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
NFKBIA
Single nucleotide variant
(synonymous variant)
Ectodermal dysplasia and immunodeficiency 2
GLikely benign
LOC130055497, NFKBIA
(R17H)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GUncertain significance
NFKBIA
(P170R)
Single nucleotide variant
(missense variant)
Ectodermal dysplasia and immunodeficiency 2
GBenign
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