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Items: 25

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806431, TTN
(S4646T +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GUncertain significance
LOC126806431, TTN
(I4635K +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806431, TTN
(G4622C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
(G4604E +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+9 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
(A4596D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806431, TTN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
(I5776V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LOC126806431, TTN
(S5767N +2 more)
Single nucleotide variant
(missense variant +1 more)
TTN-related condition
+7 more
GBenign/Likely benign
LOC126806431, TTN
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
(R5743Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+3 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
(R4499W +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
(L5742F +2 more)
Single nucleotide variant
(missense variant +1 more)
TTN-related condition
+9 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
Single nucleotide variant
(synonymous variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
(G4472D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806431, TTN
(R5710Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GUncertain significance
LOC126806431, TTN
(E4462K +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
Single nucleotide variant
(synonymous variant +1 more)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GBenign/Likely benign
LOC126806431, TTN
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
(Y5683C +2 more)
Single nucleotide variant
(missense variant +1 more)
TTN-related condition
+10 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
LOC126806431, TTN
(M4411T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
LOC126806431, TTN
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
LOC126806431, TTN
(E5609K +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 9
+6 more
GUncertain significance
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