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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(K27023fs +5 more)
Deletion
(frameshift variant)
not provided
+9 more
GPathogenic
TTN, TTN-AS1
(K35513E +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN-AS1, TTN
(E23411fs +5 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(R27933C +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+5 more
Gnot provided
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
TTN
(E8274K +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN
(S6716N +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
TTN
(S3692T)
Single nucleotide variant
(intron variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
TTN
(R3204* +1 more)
Single nucleotide variant
(nonsense)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN
(R3148H +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
LOC101927055, TTN
(I1567T +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+7 more
GUncertain significance
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