U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 420

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+9 more
GBenign/Likely benign
TTN, TTN-AS1
(S35817L +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R35652Q +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E26555K +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN, TTN-AS1
(K26545E +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GBenign/Likely benign
TTN, TTN-AS1
(T35596I +5 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(I35540T +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+9 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(A26198F +4 more)
Indel
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(A35263V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(A35263S +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(E35257K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
LOC129935184, TTN
+1 more
(I32620L +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC129935184, TTN
+1 more
(V35177M +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
LOC129935185, TTN
+1 more
(E35060D +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+7 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R34859Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GBenign/Likely benign
TTN, TTN-AS1
(V34854L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R32273H +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(M34793L +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+9 more
GBenign/Likely benign
TTN, TTN-AS1
(R25684W +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Q32009R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GUncertain significance
TTN, TTN-AS1
(E34383Q +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L31696F +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(M31683V +5 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(I34199V +5 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(W25105* +5 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(R31524H +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R31523W +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+11 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R33964H +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+9 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(I33935V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(V33889I +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+9 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R33738C +5 more)
Single nucleotide variant
(missense variant)
TTN-related myopathy
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R31968* +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+3 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(P33487S +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+7 more
GBenign/Likely benign
TTN, TTN-AS1
(E31842Q +5 more)
Single nucleotide variant
(missense variant)
Abnormality of speech or vocalization
+15 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Duplication
(intron variant)
Dilated Cardiomyopathy, Dominant
+11 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
(V33366I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(S33011T +5 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R32971H +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GBenign
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V32909A +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+8 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(R31170C +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(N32797S +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(A32765G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R32748C +5 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GLikely benign
TTN, TTN-AS1
(A32620V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R29945H +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T23412fs +5 more)
Duplication
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
TTN, TTN-AS1
(R23408C +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+3 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P29832T +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
LOC129935186, TTN
+1 more
Deletion
(inframe_indel)
not provided
GUncertain significance
TTN, TTN-AS1
(R32367C +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(T32315I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
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)
Myopathy, myofibrillar, 9, with early respiratory failure
+7 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(E23124V +5 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
+7 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TTN, TTN-AS1
(V30365M +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R22919G +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN, TTN-AS1
(A31885T +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L31852P +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(R22782P +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(S31766F +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(E31749K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(S31683G +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
TTN, TTN-AS1
(D31679N +5 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GBenign/Likely benign
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R31349H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
Format
Items per page
Sort by
Choose Destination