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Items: 1 to 100 of 14543

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABHD15, ADAP2
+202 more
Copy number loss
See cases
GPathogenic
ADAP2, ATAD5
+73 more
Copy number loss
See cases
GPathogenic
ADAP2, ATAD5
+74 more
Copy number gain
See cases
GPathogenic
ADAP2, ATAD5
+27 more
Inversion
Neurofibromatosis, type 1
GPathogenic
ADAP2, ATAD5
+72 more
Copy number loss
See cases
GPathogenic
ADAP2, ATAD5
+69 more
Copy number gain
See cases
GPathogenic
ADAP2, ATAD5
+65 more
Copy number loss
See cases
GPathogenic
ADAP2, ATAD5
+70 more
Copy number gain
See cases
GUncertain significance
ADAP2, ATAD5
+70 more
Copy number loss
See cases
GPathogenic
ADAP2, ATAD5
+68 more
Copy number loss
See cases
GPathogenic
ADAP2, ATAD5
+65 more
Copy number loss
See cases
GPathogenic
ADAP2, ATAD5
+65 more
Copy number loss
See cases
GPathogenic
ADAP2, ATAD5
+65 more
Copy number loss
See cases
GPathogenic
ADAP2, ATAD5
+72 more
Copy number gain
See cases
GPathogenic
ADAP2, ATAD5
+65 more
Copy number gain
See cases
GUncertain significance
ADAP2, ATAD5
+62 more
Copy number loss
See cases
GPathogenic
ADAP2, ATAD5
+29 more
Copy number gain
See cases
GUncertain significance
LOC108281169, LOC108281170
+4 more
Duplication
Neurofibromatosis, type 1
GUncertain significance
LOC108281169, LOC108281170
+4 more
Deletion
Neurofibromatosis, type 1
GPathogenic
MIR4733HG, LOC111811965
+1 more
Deletion
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
Duplication
Neurofibromatosis, type 1
GUncertain significance
LOC108281181, LOC108281182
+13 more
Deletion
Neurofibromatosis, type 1
GPathogenic
EVI2A, EVI2B
+13 more
Deletion
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Deletion
(5 prime UTR variant)
Neurofibromatosis, type 1
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, type 1
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, type 1
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, type 1
+1 more
GConflicting classifications of pathogenicity
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Duplication
(5 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
MIR4733HG, LOC111811965
+1 more
Duplication
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
MIR4733HG, NF1
+1 more
Duplication
(5 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Duplication
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
MIR4733HG, LOC111811965
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
MIR4733HG, LOC111811965
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Juvenile myelomonocytic leukemia
+4 more
GUncertain significance
MIR4733HG, NF1
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+4 more
GUncertain significance
EVI2A, EVI2B
+13 more
Deletion
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
not provided
+5 more
GBenign/Likely benign
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
GLikely benign
LOC111811965, MIR4733HG
+1 more
Deletion
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
Duplication
Neurofibromatosis, type 1
GUncertain significance
LOC108281182, LOC111811965
+13 more
Duplication
Neurofibromatosis, type 1
GUncertain significance
EVI2A, EVI2B
+13 more
Deletion
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis, type 1
GUncertain significance
EVI2A, EVI2B
+13 more
Deletion
Neurofibromatosis, type 1
GPathogenic
LOC108281180, LOC108281181
+13 more
Duplication
Neurofibromatosis, type 1
GUncertain significance
LOC108281169, LOC111811965
+2 more
Deletion
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(M1fs)
Deletion
(frameshift variant +1 more)
Cardiovascular phenotype
+1 more
GPathogenic
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MIR4733HG, LOC111811965
+1 more
Single nucleotide variant
(5 prime UTR variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
MIR4733HG, LOC111811965
+1 more
(M1L)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GPathogenic
LOC111811965, MIR4733HG
+1 more
(M1L)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 1
GLikely pathogenic
MIR4733HG, LOC111811965
+1 more
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
LOC111811965, MIR4733HG
+1 more
(M1K)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 1
+3 more
GPathogenic/Likely pathogenic
LOC111811965, MIR4733HG
+1 more
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
MIR4733HG, LOC111811965
+1 more
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
LOC111811965, MIR4733HG
+1 more
(M1I)
Single nucleotide variant
(non-coding transcript variant +2 more)
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
(M1I)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
LOC111811965, MIR4733HG
+1 more
(M1I)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GPathogenic
OUncertain significance
LOC111811965, MIR4733HG
+1 more
(A2T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neurofibromatosis, type 1
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(A2S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(A2F)
Indel
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(A2D)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+1 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(A3fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
(A2V)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
MIR4733HG, LOC111811965
+1 more
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
LOC111811965, MIR4733HG
+1 more
(A3T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(A3E)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(A3G)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(A3V)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+2 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
+2 more
GLikely benign
LOC111811965, MIR4733HG
+1 more
(H4fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
LOC111811965, MIR4733HG
+1 more
(H4fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
(H4Y)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(H4N)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+1 more
GLikely benign
LOC111811965, MIR4733HG
+1 more
(R5G)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(R5W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(R5T)
Single nucleotide variant
(non-coding transcript variant +1 more)
Neurofibromatosis, type 1
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(R5fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
LOC111811965, MIR4733HG
+1 more
(R5S)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+4 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(P6S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(P6Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
MIR4733HG, LOC111811965
+1 more
(P6R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
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