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Links from MedGen

Items: 1 to 100 of 263

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(Q229fs)
Duplication
(frameshift variant)
Marinesco-Sjögren syndrome
GPathogenic
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(S224T)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
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)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(G444C)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(E448K)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(F225S)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(R162C)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
+1 more
GConflicting classifications of pathogenicity
SIL1
(E390Q)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(R159Q)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(R411G)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(M144I)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(N218S)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(T73M)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(A252T)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(I184V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIL1
(E61K)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(E65K)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(S256G)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(Y212C)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(T421A)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(N233D)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(S455N)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(Q417*)
Single nucleotide variant
(nonsense)
Marinesco-Sjögren syndrome
GLikely pathogenic
SIL1
(E347fs)
Deletion
(frameshift variant)
Marinesco-Sjögren syndrome
GLikely pathogenic
SIL1
(R159W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
SIL1
(F28L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SIL1
(V176F)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
+1 more
GUncertain significance
SIL1
(P258L)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(E200A)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Deletion
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(M16L)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(T382M)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
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
GLikely benign
SIL1
(V330M)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(N233S)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(P163T)
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
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GConflicting classifications of pathogenicity
SIL1
(V69M)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
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
(P72L)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Deletion
(splice donor variant)
Marinesco-Sjögren syndrome
GLikely pathogenic
SIL1
(K272R)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(V91I)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(F345fs)
Deletion
(frameshift variant)
Marinesco-Sjögren syndrome
GPathogenic
SIL1
(M356V)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(M185T)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(R187W)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SIL1
(G444V)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(H71Y)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(R394C)
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
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(L336P)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
(L30fs)
Deletion
(frameshift variant)
Marinesco-Sjögren syndrome
GPathogenic
SIL1
(L313fs)
Deletion
(frameshift variant)
Marinesco-Sjögren syndrome
GPathogenic
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(M144V)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GConflicting classifications of pathogenicity
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(K343del)
Deletion
(inframe_deletion)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(R413C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SIL1
(A205V)
Single nucleotide variant
(missense variant)
Marinesco-Sjögren syndrome
GUncertain significance
SIL1
Single nucleotide variant
(synonymous variant)
Marinesco-Sjögren syndrome
GLikely benign
SIL1
(N42T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SIL1
Single nucleotide variant
(intron variant)
Marinesco-Sjögren syndrome
GLikely benign
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