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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD15, ADAP2
+202 more
Copy number loss
See cases
GPathogenic
GOSR1
(T5A)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
GOSR1
(D24N)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
GOSR1
(S52Y +1 more)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
GOSR1
(M1I +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
GOSR1
(T90I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOSR1
(M137T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOSR1
(D145N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOSR1
(I144M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOSR1
(R169Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOSR1
(I201V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOSR1
(N208I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOSR1
(R219M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOSR1
(R228Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOSR1
(G235A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
GOSR1
(Y182C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ADAP2, ATAD5
+11 more
Deletion
Neurofibromatosis, type 1
GPathogenic
ADAP2, ATAD5
+28 more
Copy number loss
not specified
GPathogenic
ADAP2, ATAD5
+26 more
Copy number loss
not provided
GPathogenic
ABHD15, ADAP2
+54 more
Duplication
not provided
GUncertain significance
CORO6, ABHD15
+21 more
Deletion
Neurofibromatosis, type 1
GPathogenic
AATF, ABHD15
+201 more
Copy number gain
not provided
GPathogenic
ABHD15, ADAP2
+80 more
Copy number gain
not provided
GLikely pathogenic
LYRM9, MIR144
+72 more
Copy number loss
Mitogen-activated protein kinase kinase inhibitor response
Gdrug response
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
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