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Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806421, TTN
+1 more
(T32310P +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GUncertain significance
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(V29727M +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(T32293P +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806421, TTN
+1 more
(S32266P +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806421, TTN
+1 more
(W32249R +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(G29668E +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(V29651I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806421, TTN
+1 more
(V32219F +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806421, TTN
+1 more
(T29647S +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
LOC126806421, TTN
+1 more
(D30572N +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(V30561L +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
Deletion
(inframe_deletion)
not provided
GUncertain significance
TTN-AS1, LOC126806421
+1 more
(M30508I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806421, TTN
+1 more
(A29519G +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TTN-AS1, LOC126806421
+1 more
(D32079H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+4 more
GUncertain significance
LOC126806421, TTN
+1 more
(D32079N +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(R29509W +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(R29490Q +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(R29490W +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(I32053M +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806421, TTN
+1 more
(T32047M +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
LOC126806421, TTN
+1 more
(R32033H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(D29450E +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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