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Items: 1 to 100 of 239

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998210, LOC129998211
+1148 more
Copy number gain
See cases
GPathogenic
ABCB5, ACTB
+1298 more
Copy number gain
See cases
GPathogenic
ABCB5, ADCYAP1R1
+387 more
Copy number loss
See cases
GPathogenic
FKBP14, FKBP14-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GBenign
FKBP14, FKBP14-AS1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(stop lost +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GPathogenic
FKBP14, FKBP14-AS1
(L211S)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
(K207Q)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
(I199V)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14-AS1, FKBP14
(G197R)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
FKBP14, FKBP14-AS1
(D194E)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14-AS1, FKBP14
(D194N)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
(E191del)
Microsatellite
(inframe_deletion +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GPathogenic
FKBP14, FKBP14-AS1
(E191D)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
FKBP14-AS1, FKBP14
(K190del)
Deletion
(inframe_deletion +1 more)
Ehlers-Danlos syndrome
+3 more
GConflicting classifications of pathogenicity
FKBP14, FKBP14-AS1
(K190*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
FKBP14, FKBP14-AS1
(K190Q)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GLikely benign
FKBP14-AS1, FKBP14
(I187S)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
(D186G)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
(D186N)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
FKBP14, FKBP14-AS1
(D186Y)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
(E185G)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
FKBP14, FKBP14-AS1
(D181E)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
(H180del)
Microsatellite
(inframe_deletion +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
(H179Q)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+1 more
GUncertain significance
FKBP14-AS1, FKBP14
(S178T)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
FKBP14, FKBP14-AS1
(N176S)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome
+3 more
GConflicting classifications of pathogenicity
FKBP14, FKBP14-AS1
(V175E)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+1 more
GLikely benign
FKBP14, FKBP14-AS1
(A173V)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
(H171R)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
FKBP14, FKBP14-AS1
(H171P)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
(H171Y)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
(E167K)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
(K166del)
Microsatellite
(inframe_deletion +1 more)
FKBP14-related disorder
+4 more
GConflicting classifications of pathogenicity
FKBP14-AS1, FKBP14
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign/Likely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
(V160I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+2 more
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(splice acceptor variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Microsatellite
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
(K157N)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Deletion
(nonsense +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+1 more
GLikely benign
FKBP14-AS1, FKBP14
Microsatellite
(nonsense +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
FKBP14, FKBP14-AS1
(S156Y)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
FKBP14-AS1, FKBP14
(L149F)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
FKBP14, FKBP14-AS1
(L149V)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
(S143*)
Single nucleotide variant
(nonsense +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GPathogenic/Likely pathogenic
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+1 more
GLikely benign
FKBP14, FKBP14-AS1
(E142Q)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
FKBP14, FKBP14-AS1
(G137A)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
FKBP14, FKBP14-AS1
(R135Q)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+1 more
GLikely benign
FKBP14, FKBP14-AS1
(I129T)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
(I129V)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
(I126V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome
+3 more
GBenign/Likely benign
FKBP14, FKBP14-AS1
(E122G)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
GUncertain significance
FKBP14, FKBP14-AS1
(E122fs)
Duplication
(frameshift variant +1 more)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
FKBP14, FKBP14-AS1
(I119M)
Single nucleotide variant
(missense variant +1 more)
Hypotonia
+3 more
GUncertain significance
FKBP14-AS1, FKBP14
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
+2 more
GConflicting classifications of pathogenicity
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GUncertain significance
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
FKBP14-related disorder
+3 more
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
not provided
GBenign
FKBP14, FKBP14-AS1
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, kyphoscoliotic type, 2
GLikely benign
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