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Links from Gene

Items: 14

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FOXJ1, LOC130061707
(V65A)
Single nucleotide variant
(missense variant)
FOXJ1-related disorder
GUncertain significance
FOXJ1, LOC130061707
(P54L)
Single nucleotide variant
(missense variant)
FOXJ1-related disorder
GUncertain significance
FOXJ1, LOC130061708
(W5C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXJ1, LOC130061707
(S97T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXJ1
(L377fs)
Deletion
(frameshift variant)
Ciliary dyskinesia, primary, 43
Gnot provided
FOXJ1, LOC130061707
(A49V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXJ1
(L241P)
Single nucleotide variant
(missense variant)
Ciliary dyskinesia, primary, 43
GUncertain significance
FOXJ1, LOC130061707
Single nucleotide variant
(synonymous variant)
FOXJ1-related disorder
GLikely benign
FOXJ1, LOC130061707
Single nucleotide variant
(synonymous variant)
FOXJ1-related disorder
GLikely benign
FOXJ1, LOC130061707
(K90R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXJ1, LOC130061708
(G18R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXJ1, LOC130061707
(S97A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXJ1, LOC130061707
(D78A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXJ1, RNF157-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
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