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Items: 1 to 100 of 344

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTBL2, ADAMTS12
+1445 more
Copy number gain
See cases
GPathogenic
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
(E7K)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(synonymous variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
(M14V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28, LOC123497908
(M45V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ARHGEF28
(T67S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF28
(T67M)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
ARHGEF28
Single nucleotide variant
(synonymous variant +1 more)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
(M84V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF28
(V89L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF28
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
ARHGEF28
(V92M)
Single nucleotide variant
(missense variant +1 more)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
ARHGEF28
(N108S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(synonymous variant +1 more)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
Single nucleotide variant
(synonymous variant +1 more)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
(T125M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF28
Single nucleotide variant
(synonymous variant +1 more)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
(G127A)
Single nucleotide variant
(missense variant +1 more)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ARHGEF28
(V137M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF28
(E148K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
(P186L +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
Single nucleotide variant
(synonymous variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
(P195L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
(N196S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
(E197K +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
+1 more
GUncertain significance
ARHGEF28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGEF28
(R110C +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
Single nucleotide variant
(synonymous variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
(R224G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
(W225R +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign
ARHGEF28
(S130I +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
(S230P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
(Q135R +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
(A140T +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
(T248M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
Single nucleotide variant
(synonymous variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
(T158I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ARHGEF28
(W175C +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
(D176Y +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
ARHGEF28
Single nucleotide variant
(synonymous variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
Single nucleotide variant
(intron variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ARHGEF28
Single nucleotide variant
(intron variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
(P284Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
ARHGEF28
(E191Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
(R291K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
(A195T +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
Single nucleotide variant
(synonymous variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
(S199R +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
Microsatellite
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
ARHGEF28
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
ARHGEF28
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ARHGEF28
Indel
(splice donor variant)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
Deletion
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
ARHGEF28
(R322C +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ARHGEF28
(R322H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
(H239Q +1 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
Single nucleotide variant
(intron variant)
not specified
+1 more
GBenign
ARHGEF28
Deletion
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(synonymous variant +1 more)
ARHGEF28-related disorder
GBenign
ARHGEF28
(S7L)
Single nucleotide variant
(missense variant +1 more)
ARHGEF28-related disorder
GUncertain significance
ARHGEF28
Single nucleotide variant
(synonymous variant +1 more)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
ARHGEF28
Deletion
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
(R245C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
(R245H +2 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
(P255L +2 more)
Single nucleotide variant
(missense variant)
ARHGEF28-related disorder
GLikely benign
ARHGEF28
(A262T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
(M268I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
Single nucleotide variant
(intron variant)
not provided
GBenign
ARHGEF28
(T84I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARHGEF28
(C309Y +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ARHGEF28
(P424S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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