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Items: 1 to 100 of 733

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERBIN
(S6fs)
Duplication
(frameshift variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(V9L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(R10Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(V12A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(P13S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(R15C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERBIN
(R15H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(R18Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(G19R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(E20K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(E22K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(E22D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(I41T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(F44S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(Y52C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(Y52S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(D54N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(D54H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(E60D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
ERBIN-related disorder
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not specified
GBenign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GBenign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ERBIN
(N67T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(Q69R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(L71F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(H72Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(T83M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(A86G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(A86V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(S87F)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(I88V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ERBIN
(N90D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(R95M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(E96K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(D98N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(K101N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(N102T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Deletion
(intron variant)
not provided
GBenign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(I119V)
Single nucleotide variant
(missense variant)
not provided
GBenign
ERBIN
Single nucleotide variant
(synonymous variant)
ERBIN-related disorder
+1 more
GConflicting classifications of pathogenicity
ERBIN
(I127V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(intron variant)
not specified
GBenign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(Q136L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(D147G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(D147E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(N156K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(F157L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ERBIN
Duplication
(intron variant)
not provided
GBenign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Deletion
(intron variant)
not provided
GBenign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
(T161S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(I165V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(E167D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
(Q172R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
ERBIN
(M180V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
(N181S)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ERBIN
(E187K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ERBIN
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
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