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Items: 1 to 100 of 753

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
LOC129993982, LOC129993983
+265 more
Copy number loss
Intellectual disability
GLikely pathogenic
ADAMTS6, AK6
+139 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS6, AK6
+115 more
Copy number loss
See cases
GPathogenic
ADAMTS6, CENPK
+41 more
Copy number gain
See cases
GUncertain significance
ADAMTS6, CENPK
+28 more
Copy number loss
See cases
GLikely pathogenic
AK6, CCDC125
+101 more
Copy number gain
See cases
GUncertain significance
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
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