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Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
APBB1, C11orf42
+59 more
Copy number gain
See cases
GUncertain significance
APBB1, ARFIP2
+41 more
Copy number gain
See cases
GPathogenic
APBB1, SMPD1
(R498L +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+4 more
GPathogenic/Likely pathogenic
APBB1, SMPD1
(R610del +3 more)
Microsatellite
(inframe_deletion +2 more)
not provided
+3 more
GPathogenic
APBB1
(K468E +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APBB1
(S436L +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APBB1
(Q692H +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APBB1
(A442T +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APBB1
(R422C +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
APBB1
(A421V +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(E418K +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(G393S +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(R385C +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(S346I +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(G344E +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(P317T +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(V291L +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(R275H +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(R507H +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(R504Q +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(R261C +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
APBB1
(V220I +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(R451C +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(A220G +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
APBB1
(M153V +3 more)
Single nucleotide variant
(missense variant +1 more)
APBB1-related disorder
GLikely benign
APBB1
(N137S +3 more)
Single nucleotide variant
(missense variant +1 more)
APBB1-related disorder
GLikely benign
APBB1
(V172A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(A166T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
APBB1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
APBB1
(E328D +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
APBB1
(M68V +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
APBB1
(E320V +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(G291R +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(N25S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
APBB1
(E238D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
APBB1
(R213Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(M212R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(K204R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(L173F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(D163E)
Single nucleotide variant
(missense variant +1 more)
APBB1-related disorder
GLikely benign
APBB1
(E158K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(A157V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
APBB1
Single nucleotide variant
(synonymous variant +1 more)
APBB1-related disorder
GLikely benign
APBB1
(Y117N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(K111R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(R85C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(N66S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(S52N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
APBB1
(R51C)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
ANO9, AP2A2
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
APBB1, ARFIP2
+10 more
Duplication
not provided
GUncertain significance
CAVIN3, CCKBR
+205 more
Copy number gain
not provided
GPathogenic
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
APBB1, ARFIP2
+31 more
Duplication
not provided
GUncertain significance
CHRNA10, CNGA4
+208 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
APBB1, ARFIP2
+25 more
Copy number gain
not provided
GUncertain significance
C11orf40, C11orf42
+243 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
ADM, AKIP1
+258 more
Copy number gain
not provided
GPathogenic
AKIP1, ANO9
+222 more
Copy number gain
not provided
GPathogenic
DEAF1, DENND2B
+327 more
Copy number gain
See cases
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
ASCL3, CEND1
+305 more
Copy number gain
See cases
GPathogenic
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
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