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Items: 1 to 100 of 248

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAL3ST3, GPR152
+282 more
Copy number loss
See cases
GPathogenic
ACTN3, ACY3
+212 more
Copy number gain
See cases
GPathogenic
CTSF
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
CTSF
Deletion
(3 prime UTR variant)
not provided
GLikely benign
CTSF
(D484H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSF
(V482M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSF
(A481V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
(S480L)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
(T476S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
(C472S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
(G470R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
CTSF
(R467C)
Indel
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
CTSF
(R467C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CTSF
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
CTSF
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
CTSF
(E459K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
(G458D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
(G458A)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GPathogenic
CTSF
(W457*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
CTSF
(T455A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSF
(W453*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
CTSF
(N451fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
(K450R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSF
(V444I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CTSF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
CTSF
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
CTSF
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
CTSF
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 13
+1 more
GBenign/Likely benign
CTSF
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSF
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSF
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
CTSF
(R441C)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GBenign
CTSF
(G439S)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
+2 more
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
CTSF
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
CTSF
(I429V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
(L428P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSF
(W427R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
(C424*)
Single nucleotide variant
(nonsense)
See cases
GLikely pathogenic
CTSF
(L423F)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
CTSF
(R421Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSF
(R421W)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
+2 more
GBenign/Likely benign
CTSF
(R418H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
+1 more
GConflicting classifications of pathogenicity
CTSF
(R418C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSF
(I416T)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GPathogenic
CTSF
(G415R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CTSF
(R413C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
CTSF
Deletion
(intron variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
CTSF
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 13
+1 more
GBenign/Likely benign
CTSF
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSF
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
CTSF
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
CTSF
(I404T)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
Gnot provided
CTSF
(V402M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
CTSF
(I400V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSF
(A392V)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
Single nucleotide variant
(intron variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
CTSF
Single nucleotide variant
(intron variant)
not specified
GLikely benign
CTSF
(E387K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CTSF
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign/Likely benign
CTSF
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CTSF
(D379E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
(N378S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CTSF
(K374fs)
Duplication
(frameshift variant)
Neuronal ceroid lipofuscinosis
GPathogenic
CTSF
(N367S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
CTSF
(M363V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
(Y357H)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CTSF
(G350W)
Single nucleotide variant
(missense variant)
Developmental disorder
GUncertain significance
CTSF
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CTSF
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSF
Single nucleotide variant
(intron variant)
not provided
GBenign
CTSF
Single nucleotide variant
(intron variant)
not provided
GLikely benign
CTSF
Single nucleotide variant
(intron variant)
not provided
GBenign
CTSF
Single nucleotide variant
(splice donor variant)
Neuronal ceroid lipofuscinosis 13
+1 more
GLikely pathogenic
CTSF
(I345L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
CTSF
(S343L)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 13
+2 more
GLikely benign
CTSF
(K331fs)
Indel
(frameshift variant)
Neuronal ceroid lipofuscinosis
+1 more
GPathogenic/Likely pathogenic
CTSF
(K331fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 13
GPathogenic
CTSF
(D330N)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 13
+1 more
GLikely benign
CTSF
(L324S)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
CTSF
(E322G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CTSF
Single nucleotide variant
(splice acceptor variant)
Neuronal ceroid lipofuscinosis 13
GLikely pathogenic
CTSF
(Q321R)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GPathogenic
CTSF
(S319F)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
(S319A)
Single nucleotide variant
(missense variant)
Neuronal ceroid lipofuscinosis 13
GUncertain significance
CTSF
(S319fs)
Deletion
(frameshift variant)
Neuronal ceroid lipofuscinosis 13
GPathogenic
CTSF
(L318F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CTSF
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
CTSF
Single nucleotide variant
(synonymous variant)
Neuronal ceroid lipofuscinosis 13
GLikely benign
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