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Links from MedGen

Items: 1 to 100 of 162

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(I29M)
Single nucleotide variant
(non-coding transcript variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(Q33H)
Single nucleotide variant
(non-coding transcript variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(W88*)
Single nucleotide variant
(nonsense +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GPathogenic
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(I18fs)
Deletion
(frameshift variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely pathogenic
FKBP14-AS1, FKBP14
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(V14L)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(N7K)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(H180del)
Microsatellite
(inframe_deletion +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(E99Q)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
FKBP14, FKBP14-AS1
(L103F)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14-AS1, FKBP14
(I18T)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(G197R)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(I18V)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Duplication
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(S65F)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(K68R)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(L211S)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(S143*)
Single nucleotide variant
(nonsense +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GPathogenic/Likely pathogenic
FKBP14, FKBP14-AS1
(G72D)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
(H179Q)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
+1 more
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Microsatellite
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
+1 more
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
+1 more
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(R2S)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(W6C)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(D46Y)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
(P25R)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(D186Y)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(N176S)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(K102R)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(V160I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
(H69fs)
Duplication
(frameshift variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GPathogenic
FKBP14, FKBP14-AS1
(I129V)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(W6G)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
(D181E)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(T11I)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(E191D)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
(K157N)
Single nucleotide variant
(non-coding transcript variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(K58T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
AQP1, CRHR2
+10 more
Duplication
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(R135Q)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
(Q73L)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14-AS1, FKBP14
Deletion
(nonsense +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(P35T)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
+1 more
GBenign/Likely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
+1 more
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GLikely benign
FKBP14, FKBP14-AS1
(L32fs)
Microsatellite
(frameshift variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GPathogenic
FKBP14, FKBP14-AS1
(L149V)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
GUncertain significance
FKBP14, FKBP14-AS1
(S156Y)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
(I187S)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
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