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 11279

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMNA
(R184C +2 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+13 more
GUncertain significance
CD46
(A353V +4 more)
Single nucleotide variant
(missense variant)
Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
+3 more
GBenign/Likely benign
ACTA1
(A140G)
Single nucleotide variant
(missense variant)
Actin accumulation myopathy
GPathogenic
ACTA1
(H75Y)
Single nucleotide variant
(missense variant)
Congenital myopathy 2c, severe infantile, autosomal dominant
GPathogenic
ACTN2
(L727R +1 more)
Single nucleotide variant
(missense variant)
Myopathy, congenital, with structured cores and z-line abnormalities
GPathogenic/Likely pathogenic
NEB, RIF1
(S6182L +2 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 2
+1 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Tibial muscular dystrophy
+4 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Tibial muscular dystrophy
+4 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Early-onset myopathy with fatal cardiomyopathy
+5 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Early-onset myopathy with fatal cardiomyopathy
+4 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+4 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+4 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Tibial muscular dystrophy
+4 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Early-onset myopathy with fatal cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Early-onset myopathy with fatal cardiomyopathy
+4 more
GUncertain significance
TTN-AS1, TTN
Single nucleotide variant
(3 prime UTR variant)
Early-onset myopathy with fatal cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(3 prime UTR variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+4 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Early-onset myopathy with fatal cardiomyopathy
+4 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+4 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+4 more
GBenign/Likely benign
TTN-AS1, TTN
Duplication
(3 prime UTR variant)
Limb-girdle muscular dystrophy, recessive
+7 more
GBenign/Likely benign
TTN-AS1, TTN
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1G
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R34348* +5 more)
Single nucleotide variant
(nonsense)
Tibial muscular dystrophy
+5 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
(K27023fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive titinopathy
+8 more
GPathogenic
TTN, TTN-AS1
(I26892F +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(L34312R +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+6 more
GUncertain significance
TTN, TTN-AS1
(G34292R +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
TTN, TTN-AS1
Indel
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GPathogenic
TTN-AS1, TTN
(V35928E +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E33342K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(I26843T +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+8 more
GBenign/Likely benign
TTN, TTN-AS1
Duplication
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
TTN, TTN-AS1
(S35869G +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Q26795* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GPathogenic/Likely pathogenic
TTN-AS1, TTN
(M35859T +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(S35855I +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(M26778T +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+5 more
GUncertain significance
TTN, TTN-AS1
(S35817L +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P33230S +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GLikely benign
TTN, TTN-AS1
(C26718F +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+2 more
GUncertain significance
TTN, TTN-AS1
(R34139H +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(A35764S +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(V35756A +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P34061L +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E33129Q +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GLikely benign
TTN, TTN-AS1
(L35694V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Q33098E +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
TTN, TTN-AS1
(Y35653D +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN, TTN-AS1
(R35652Q +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L26700P +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(V26571M +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
TTN-AS1, TTN
(L33058V +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(S35613A +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(K26545E +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(A33039V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E35601K +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+2 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GBenign/Likely benign
TTN-AS1, TTN
(T35596I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(H26525R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(E33007K +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GUncertain significance
TTN, TTN-AS1
(E32991Q +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+10 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(A26479fs +5 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
+6 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(I35540T +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(E26462V +5 more)
Indel
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E35527V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(K35513E +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+9 more
GBenign/Likely benign
TTN, TTN-AS1
(K32913R +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L35468H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(G35463A +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
TTN, TTN-AS1
(R32880Q +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
TTN, TTN-AS1
(V33782F +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
TTN, TTN-AS1
(P35420S +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
LOC129935182, TTN
+1 more
(K35385T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
LOC129935182, TTN
+1 more
(E35356K +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
LOC129935182, TTN
+1 more
(T26410fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+6 more
GLikely pathogenic
Format
Items per page
Sort by
Choose Destination