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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806427, TTN
(A15200G +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+9 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(V15167I +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+6 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(K15136N +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(D15110N +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(D12528E +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806427, TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+9 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(I13430T +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(A15059T +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GBenign/Likely benign
LOC126806427, TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
LOC126806427, TTN
(I12472M +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
LOC126806427, TTN
Microsatellite
(splice acceptor variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
Deletion
(intron variant)
not provided
GUncertain significance
LOC126806427, TTN
(R12451I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806427, TTN
(A12450V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
LOC126806427, TTN
(L15005P +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(N12433H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GUncertain significance
LOC126806427, TTN
(R14996H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(G12425V +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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