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Links from MedGen

Items: 28

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NOG
(A22fs)
Duplication
(frameshift variant)
Symphalangism-brachydactyly syndrome
GPathogenic
NOG
(R204Q)
Single nucleotide variant
(missense variant)
Tarsal-carpal coalition syndrome
+1 more
GConflicting classifications of pathogenicity
GDF5, LOC109461476
Single nucleotide variant
(5 prime UTR variant)
Symphalangism-brachydactyly syndrome
+4 more
GUncertain significance
FGF9
Deletion
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GLikely benign
FGF9
Duplication
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Deletion
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Single nucleotide variant
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Microsatellite
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Single nucleotide variant
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Microsatellite
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Microsatellite
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Microsatellite
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Deletion
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Deletion
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Deletion
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Microsatellite
(3 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Duplication
(5 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Duplication
(5 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Insertion
(5 prime UTR variant)
Symphalangism-brachydactyly syndrome
GLikely benign
FGF9
Duplication
(5 prime UTR variant)
Symphalangism-brachydactyly syndrome
GBenign
FGF9
Duplication
(5 prime UTR variant)
Symphalangism-brachydactyly syndrome
GBenign
FGF9
Deletion
(5 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
FGF9
Duplication
(5 prime UTR variant)
Symphalangism-brachydactyly syndrome
GUncertain significance
NOG
(C232W)
Single nucleotide variant
(missense variant)
Symphalangism-brachydactyly syndrome
GPathogenic
NOG
(W205C)
Single nucleotide variant
(missense variant)
Symphalangism-brachydactyly syndrome
GPathogenic
NOG
(W205*)
Single nucleotide variant
(nonsense)
Symphalangism-brachydactyly syndrome
GPathogenic
NOG
(L20fs)
Deletion
(frameshift variant)
Symphalangism-brachydactyly syndrome
GPathogenic
NOG
(W217G)
Single nucleotide variant
(missense variant)
Symphalangism-brachydactyly syndrome
GPathogenic
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