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Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806424, TTN
+1 more
(P18425L +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
LOC126806424, TTN
+1 more
(R18406K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+4 more
GUncertain significance
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GLikely benign
LOC126806424, TTN
+1 more
(V18396F +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806424, TTN
+1 more
(E11094fs +5 more)
Duplication
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
LOC126806424, TTN
+1 more
(E20019K +5 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GBenign/Likely benign
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GLikely benign
LOC126806424, TTN
+1 more
(D20002G +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+8 more
GBenign/Likely benign
LOC126806424, TTN
+1 more
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
LOC126806424, TTN
+1 more
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+4 more
GPathogenic/Likely pathogenic
LOC126806424, TTN
+1 more
(R17391C +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GLikely benign
LOC126806424, TTN
+1 more
(Q11006R +4 more)
Indel
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806424, TTN
+1 more
(D19903N +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+7 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(R18204H +5 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(R10780C +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LOC126806424, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+9 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
TTN-related disorder
+5 more
GConflicting classifications of pathogenicity
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