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Items: 44

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
CAVIN3
(E258D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(E252K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(A249S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(P226S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(Q221R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(R211S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(P209L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(V207F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(P199L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(R190Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(Q157P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(Q150K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(P147Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(H113N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(A99G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(A95V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(A94T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(G63R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(S62G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(R59L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(G17E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3
(G9W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CAVIN3, LOC130005189
(L6S)
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
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
CAVIN3, CCKBR
Copy number loss
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
CAVIN3
Copy number loss
not provided
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
ART5, CCDC34
+364 more
Copy number gain
See cases
GPathogenic
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