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Items: 34

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DMPK
Microsatellite
Steinert myotonic dystrophy syndrome
GBenign
DMPK
Microsatellite
Steinert myotonic dystrophy syndrome
GPathogenic
FMR1, FMR1-AS1
Microsatellite
Fragile X syndrome
GBenign
FMR1
Microsatellite
Fragile X syndrome
Gother
FMR1
Microsatellite
Fragile X syndrome
Gother
HTT
Microsatellite
Huntington disease
Gother
HTT
Microsatellite
Huntington disease
GBenign
HTT
Microsatellite
Huntington disease
Gother
FMR1, FMR1-AS1
Microsatellite
Fragile X syndrome
GPathogenic
DM1-AS, DMPK
+3 more
Microsatellite
Steinert myotonic dystrophy syndrome
Gother
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
(K684fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
(K1177fs)
Deletion
(frameshift variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR
Single nucleotide variant
(splice donor variant)
Cystic fibrosis
GPathogenic
CFTR, LOC113633877
Single nucleotide variant
(intron variant)
Cystic fibrosis
GPathogenic
CFTR
(G85E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(R334W)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(R1162*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR
(N1303K)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(W1282*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(R553*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(G551D)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(G542*)
Single nucleotide variant
(nonsense)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
(R560T)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, LOC111674475
Single nucleotide variant
(splice acceptor variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(A455E)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(R347P)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR
(R117H)
Single nucleotide variant
(missense variant)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
(I507del)
Microsatellite
(inframe_deletion)
Cystic fibrosis
GPathogenic
CFTR, CFTR-AS1
Deletion
(inframe_deletion)
Cystic fibrosis
GPathogenic
HTT, LOC109461479
+1 more
Microsatellite
Huntington disease
GPathogenic
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