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Links from MedGen

Items: 1 to 100 of 309

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(G324V)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(T98I)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(E250K)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(G58E)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(M216I)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(L379F)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(N158K)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(Q13R)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(E298Q)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(E222K)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Duplication
(inframe_insertion)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(M127I)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(G386D)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(splice acceptor variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(K287I)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(P263L)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(K304E)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(T20A)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(K285Q)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(I181M)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(L267V)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(V288A)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(L47P)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(Y185C)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(V11A)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(M216V)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(M76I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(L310R)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(G5V)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Deletion
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(L292M)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(N328D)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(V163M)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(E234Q)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(S142fs)
Deletion
(frameshift variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Duplication
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GBenign
SERPINI1
(S282A)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
+1 more
GUncertain significance
SERPINI1
(F87S)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(N149T)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(A2V)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(L325R)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(Y177S)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(S349L)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(V105M)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(N328H)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(A280S)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(M96T)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(M395L)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(S168T)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(Q143*)
Single nucleotide variant
(nonsense)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(A25V)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(S210N)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(F118L)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(S252G)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(intron variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
Single nucleotide variant
(synonymous variant)
Familial encephalopathy with neuroserpin inclusion bodies
GLikely benign
SERPINI1
(A19V)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(E23D)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
SERPINI1
(S14N)
Single nucleotide variant
(missense variant)
Familial encephalopathy with neuroserpin inclusion bodies
GUncertain significance
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