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Items: 1 to 100 of 439

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C1S
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Deletion
(intron variant)
not provided
GLikely benign
C1S
(C3F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(L9F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(A11L)
Indel
(missense variant +1 more)
not provided
GUncertain significance
C1S
(A11S)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
C1S
(A11V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
C1S
(V13F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(Y14H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1S
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1S
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1S
(M19V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(M19T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(G21E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(P26S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(N27fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
C1S
(N27S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(Y28S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(P29H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(P29R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(Q30E)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
C1S
(A31T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(S34G)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
C1S
(V36L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(I42V)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome, periodontal type 2
+2 more
GConflicting classifications of pathogenicity
C1S
(T55A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(I59T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1S
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1S
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1S
(Y67C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(D68E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
C1S
(Q71fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
C1S
Single nucleotide variant
(splice donor variant +1 more)
not provided
GLikely pathogenic
C1S
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GBenign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Microsatellite
(intron variant)
not provided
GUncertain significance
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
(G75E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(T77I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(L82fs)
Duplication
(5 prime UTR variant +1 more)
not provided
GPathogenic
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
(G84E)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(S87C)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
(S87N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(N89D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(N90S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(H92Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(I95V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
(Y103*)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GPathogenic
C1S
(S115F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(N116D)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(N116S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
(R119C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(R119H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
C1S
(T121M)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
(A124T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
(A129S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
Single nucleotide variant
(intron variant)
not provided
GBenign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Deletion
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1S
(I132V)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
C1S
(T136I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(V139L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(V139I)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(P142T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+1 more
GBenign
C1S
(I151L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
(S157F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(P160L)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
(P160R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GUncertain significance
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
(D166G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
C1S
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GLikely benign
C1S
(K2N +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1S
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
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