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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNT1
Single nucleotide variant
(no sequence alteration)
not specified
+2 more
GBenign
TNNT1
(D194N +1 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 5
+1 more
GUncertain significance
TNNT1
(R175W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
TNNT1
(S108* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
TNNT1
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign/Likely benign
TNNT1, TNNI3
(E12G)
Single nucleotide variant
(missense variant)
Nemaline myopathy 5
+6 more
GBenign/Likely benign
TNNT1
Microsatellite
(splice donor variant)
Nemaline myopathy 5
+1 more
GConflicting classifications of pathogenicity
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