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Items: 55

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DENND5A, DNHD1
+723 more
Copy number gain
See cases
GPathogenic
A-GAMMA3'E, ANO9
+388 more
Copy number gain
See cases
GPathogenic
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
ASCL2, BGLT3
+328 more
Deletion
Thalassemia, gamma-delta-beta
GPathogenic
OR51E1
(S11R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(G22D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(M81T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(T93A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(A99D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(L118P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(K146I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(R173C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(R173H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR51E1
(S174P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(V187I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(D194N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(R196W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(A209T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(L216P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(L223F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(L225F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(R233H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(V244I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(V247L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(I258F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(R265C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(R270H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR51E1
(V276I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
OR51E1
(V288G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(R302Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
OR51E1
(A315V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ANO9, AP2A2
+210 more
Copy number gain
Russell-Silver syndrome
GPathogenic
CAVIN3, CCKBR
+205 more
Copy number gain
not provided
GPathogenic
C11orf40, OR51D1
+9 more
Copy number gain
not provided
GUncertain significance
CYP2R1, DBX1
+308 more
Copy number gain
See cases
GPathogenic
IFITM5, SIGIRR
+137 more
Copy number gain
not provided
Gnot provided
ANO9, AP2A2
+109 more
Copy number gain
See cases
GPathogenic
CHRNA10, CNGA4
+208 more
Copy number gain
Silver-Russell syndrome 1
GPathogenic
CALCB, CARS1
+343 more
Copy number gain
not provided
GPathogenic
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
MMP26, OR51A2
+17 more
Copy number gain
See cases
GLikely benign
MMP26, OR51A2
+17 more
Copy number gain
See cases
GLikely benign
C11orf40, OR51D1
+15 more
Copy number gain
See cases
GLikely benign
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
ART1, ART5
+17 more
Copy number gain
See cases
GLikely benign
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
C11orf40, OR51D1
+12 more
Copy number gain
See cases
GUncertain significance
OR51G2, OR51L1
+132 more
Copy number gain
See cases
GPathogenic
C11orf40, OR51D1
+15 more
Copy number loss
See cases
GUncertain significance
OR51G2, OR51L1
+28 more
Copy number gain
Abnormal esophagus morphology
GLikely pathogenic
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