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Items: 27

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806432, TTN
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
LOC126806432, TTN
(T5041R)
Single nucleotide variant
(intron variant +1 more)
Hypertrophic cardiomyopathy 9
+7 more
GUncertain significance
LOC126806432, TTN
(P5031S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806432, TTN
(V5025I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806432, TTN
(D5004G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806432, TTN
Single nucleotide variant
(synonymous variant +1 more)
TTN-related condition
+2 more
GBenign/Likely benign
LOC126806432, TTN
(M4938V)
Single nucleotide variant
(intron variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
LOC126806432, TTN
(T4936S)
Single nucleotide variant
(intron variant +1 more)
Early-onset myopathy with fatal cardiomyopathy
+7 more
GUncertain significance
LOC126806432, TTN
(T4923A)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
LOC126806432, TTN
(E4892K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806432, TTN
(N4842K)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC126806432, TTN
(Q4830R)
Single nucleotide variant
(intron variant +1 more)
TTN-related condition
+2 more
GLikely benign
LOC126806432, TTN
(L4776S)
Single nucleotide variant
(intron variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
LOC126806432, TTN
(K4774R)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
LOC126806432, TTN
(D4747V)
Single nucleotide variant
(missense variant +1 more)
TTN-related condition
+8 more
GUncertain significance
LOC126806432, TTN
Single nucleotide variant
(intron variant +1 more)
not specified
+1 more
GBenign/Likely benign
LOC126806432, TTN
(L4736F)
Single nucleotide variant
(missense variant +1 more)
TTN-related condition
+1 more
GUncertain significance
LOC126806432, TTN
(S4732T)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
LOC126806432, TTN
(I4693T)
Single nucleotide variant
(intron variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
LOC126806432, TTN
(V4688M)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
LOC126806432, TTN
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
LOC126806432, TTN
(N4669T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806432, TTN
(S4663P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806432, TTN
(N4661D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806432, TTN
(S4651G)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+7 more
GUncertain significance
LOC126806432, TTN
(P4650R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806432, TTN
(P4650S)
Single nucleotide variant
(intron variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
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