U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 11

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935183, TTN
+1 more
(A33673T +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TTN-AS1, LOC129935183
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(T32701fs +5 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(P35261T +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC129935183, TTN
+1 more
(V35253M +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(R33611Q +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(R35252* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+3 more
GPathogenic/Likely pathogenic
LOC129935183, TTN
+1 more
(A35227V +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC129935183, TTN
+1 more
(V35203A +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(V26262fs +5 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination