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Items: 1 to 100 of 354

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIL1
Single nucleotide variant
(3 prime UTR variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(3 prime UTR variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(3 prime UTR variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(3 prime UTR variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Deletion
(3 prime UTR variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(3 prime UTR variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(L457P)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GPathogenic
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(S455N)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(V453A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIL1
(G451S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(E448K)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(G444V)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(G444C)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(E441*)
Single nucleotide variant
(nonsense)
Marinesco-Sjögren syndrome
GPathogenic
SIL1
(E441K)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+1 more
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
SIL1-related disorder
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(D439G)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(Q438*)
Single nucleotide variant
(nonsense)
Marinesco-Sjögren syndrome
+1 more
GPathogenic
SIL1
(Y429F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SIL1
(E428Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIL1
(A427S)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(T421A)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(G419S)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+1 more
GUncertain significance
SIL1
(Q417*)
Single nucleotide variant
(nonsense)
Marinesco-Sjögren syndrome
GLikely pathogenic
SIL1
(P416H)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(R413L)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(R413H)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+1 more
GUncertain significance
SIL1
(R413C)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+1 more
GUncertain significance
SIL1
(R411H)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+2 more
GBenign/Likely benign
SIL1
(R411G)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(R411C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SIL1
(C408Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
+2 more
GLikely benign
SIL1
(G402fs)
Deletion
(frameshift variant)
not provided
GPathogenic
SIL1
(L398P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SIL1
(V397M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SIL1
(R394C)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(A393S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SIL1
(E390Q)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(E390K)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+1 more
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SIL1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
SIL1
(A387V)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(T382M)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(E380K)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(C379S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
SIL1
(W374C)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(W374R)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+2 more
GConflicting classifications of pathogenicity
SIL1
(L373fs)
Deletion
(frameshift variant)
Marinesco-Sjögren syndrome
GPathogenic
SIL1
(G372D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SIL1
(V367A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SIL1
(V367I)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+1 more
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(R365H)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIL1
(R365C)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(Q363P)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+2 more
GUncertain significance
SIL1
(Q362R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SIL1
(Q362L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
SIL1
(E359D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(M356V)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(Q354*)
Single nucleotide variant
(nonsense)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(E347K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
SIL1
(E347fs)
Deletion
(frameshift variant)
Marinesco-Sjögren syndrome
GLikely pathogenic
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(A346P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SIL1
(A346T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIL1
(F345fs)
Deletion
(frameshift variant)
Marinesco-Sjögren syndrome
GPathogenic
SIL1
(M344T)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+1 more
GUncertain significance
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
+1 more
GConflicting classifications of pathogenicity
SIL1
Single nucleotide variant
(intron variant)
See cases
+2 more
GPathogenic/Likely pathogenic
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
+1 more
GBenign/Likely benign
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GConflicting classifications of pathogenicity
SIL1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SIL1
Single nucleotide variant
(intron variant)
SIL1-related disorder
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
not provided
GBenign
SIL1
Deletion
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
+1 more
GConflicting classifications of pathogenicity
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