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Links from PubMed

Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNT1
Single nucleotide variant
(splice acceptor variant)
Nemaline myopathy 5
GLikely pathogenic
TNNT1
(E21fs)
Duplication
(frameshift variant)
Nemaline myopathy 5
GPathogenic
TNNT1
Single nucleotide variant
(splice acceptor variant)
Nemaline myopathy 5
GLikely pathogenic
TNNT1
(W209*)
Single nucleotide variant
(nonsense +1 more)
Nemaline myopathy 5
GPathogenic
TNNT1
Single nucleotide variant
(splice donor variant)
Nemaline myopathy 5
GLikely pathogenic
TNNT1
(E128* +1 more)
Single nucleotide variant
(nonsense)
Nemaline myopathy 5
GPathogenic
TNNT1
(E27fs)
Deletion
(frameshift variant +1 more)
Nemaline myopathy 5
GPathogenic
TNNT1
Deletion
Nemaline myopathy 5
GPathogenic
TNNT1
Single nucleotide variant
(splice donor variant)
Nemaline myopathy 5
GLikely pathogenic
TNNT1
(K151fs +1 more)
Deletion
(frameshift variant)
Nemaline myopathy 5
GPathogenic
TNNT1
(L233fs +2 more)
Duplication
(frameshift variant)
Nemaline myopathy 5
GPathogenic
TNNT1
Single nucleotide variant
(splice acceptor variant)
Nemaline myopathy 5
GLikely pathogenic
TNNT1
(K41fs +1 more)
Duplication
(frameshift variant)
Nemaline myopathy 5
GPathogenic
TNNT1
Single nucleotide variant
(intron variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
TNNT1
(E180* +1 more)
Single nucleotide variant
(nonsense)
Nemaline myopathy 5
GPathogenic
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