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Items: 1 to 100 of 27855

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL23, KLHL41
+488 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+224 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
ABI2, AGPS
+697 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
LOC126806416, LOC126806417
+591 more
Copy number loss
See cases
GPathogenic
LOC129935258, LOC129935259
+312 more
Copy number loss
See cases
GPathogenic
ANKAR, ANKRD44
+430 more
Copy number loss
See cases
GPathogenic
LOC126806421, LOC126806422
+17 more
Duplication
Dystonia 16
GUncertain significance
LOC126806420, LOC126806421
+12 more
Deletion
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
not provided
GBenign
TTN-AS1, TTN
Single nucleotide variant
not provided
GLikely benign
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)
Myopathy, myofibrillar, 9, with early respiratory failure
+4 more
GUncertain significance
TTN, TTN-AS1
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
+5 more
GUncertain significance
TTN, TTN-AS1
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
+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)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+4 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+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, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Tibial muscular dystrophy
+4 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, TTN-AS1
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)
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)
Tibial muscular dystrophy
+4 more
GBenign/Likely benign
TTN-AS1, TTN
Duplication
(3 prime UTR variant)
Dilated Cardiomyopathy, Dominant
+7 more
GBenign/Likely benign
TTN, TTN-AS1
Deletion
(3 prime UTR variant)
not provided
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1G
+4 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(3 prime UTR variant)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(stop lost)
not provided
GUncertain significance
TTN, TTN-AS1
(I26926fs +5 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN, TTN-AS1
(R34348* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(H27047R +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
(I35986T +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(I35986V +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(G27105E +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
(E26911* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN, TTN-AS1
(G26909R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN, TTN-AS1
(S35972I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN, TTN-AS1
(L27098fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
(L27098Q +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
(T33402I +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(L26903R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(L33400P +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(G35967E +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GUncertain significance
TTN, TTN-AS1
(G33398D +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTN, TTN-AS1
Deletion
(inframe_indel)
Tibial muscular dystrophy
GPathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TTN, TTN-AS1
(D33397G +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN, TTN-AS1
(Q33396* +5 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
TTN, TTN-AS1
(K27023fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+8 more
GPathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN, TTN-AS1
(V35961I +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
TTN, TTN-AS1
(M26894V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TTN, TTN-AS1
(I26893N +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TTN, TTN-AS1
(I27084T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(I26892F +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(L27016fs +5 more)
Deletion
(frameshift variant)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
TTN, TTN-AS1
(L34315P +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GLikely pathogenic
TTN, TTN-AS1
(T35955N +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
(T35955I +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(L34312R +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+6 more
GUncertain significance
TTN, TTN-AS1
(D26886N +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN, TTN-AS1
(D35951Y +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
Duplication
(inframe_insertion)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
(E27075D +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(I34306S +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(I35947T +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN-AS1, TTN
(I33379N +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(I35947V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 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
(H33378P +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
Gnot provided
TTN, TTN-AS1
(H27073Y +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(F35945L +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
(F27072I +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E26876Q +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN, TTN-AS1
(H26873R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN, TTN-AS1
(G35934R +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TTN, TTN-AS1
(G34293* +5 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
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