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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
TRIM22, TRIM3
+917 more
Copy number gain
See cases
GPathogenic
ADM, ADM-DT
+135 more
Copy number gain
See cases
GUncertain significance
DENND5A, IPO7
+20 more
Copy number gain
See cases
GUncertain significance
IPO7
(S32A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(M63I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(T73I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(G76V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(P80L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(V96L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(R125H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(Y136N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(T226R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(I267V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(M317R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(V353I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(A363G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(P422A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(D425G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(S438C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(F462L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(S466N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(S467G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(I506T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(N527S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(I550V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(T574I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(G595E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(D597G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(V621I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(K626E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(I655V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(M671L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(G728R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(A786G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(N803S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(R805C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(D826G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(Q860H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(A923G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(D929V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(A979T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(H982D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
IPO7
(G983R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADM, AKIP1
+18 more
Copy number gain
not provided
GUncertain significance
CYP2R1, DBX1
+308 more
Copy number gain
See cases
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
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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