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Items: 39

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
(T36S)
Single nucleotide variant
(missense variant)
NF1-related disorder
+5 more
GConflicting classifications of pathogenicity
NF1
(N45S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, familial spinal
+6 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
NF1
(L380F)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+3 more
GUncertain significance
NF1
(H407Y)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+2 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
NF1
(E540D)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+2 more
GConflicting classifications of pathogenicity
NF1
(M590T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
+1 more
GLikely benign
NF1
(R659W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
NF1
(S665F)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
NF1
(P678L)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+6 more
GConflicting classifications of pathogenicity
NF1
(T780fs)
Duplication
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
NF1
(I826L)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
NF1
(T1065P)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, familial spinal
+7 more
GBenign/Likely benign
NF1
Single nucleotide variant
(synonymous variant)
not provided
+7 more
GConflicting classifications of pathogenicity
NF1
(P1412R +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+2 more
GUncertain significance
NF1
(R1488H +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+4 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(synonymous variant)
Hereditary cancer-predisposing syndrome
+2 more
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, familial spinal
+6 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
+3 more
GBenign/Likely benign
NF1
(I2037V +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(intron variant)
not provided
+4 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
+2 more
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, familial spinal
+7 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
NF1
(V2490L +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+9 more
GBenign/Likely benign
NF1
(A2511V +1 more)
Single nucleotide variant
(missense variant)
Café-au-lait macules with pulmonary stenosis
+7 more
GBenign/Likely benign
NF1
(Y2681F +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+4 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(intron variant)
Hereditary cancer-predisposing syndrome
+1 more
GLikely benign
NF1
(E2727D +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+2 more
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GBenign/Likely benign
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis, familial spinal
+6 more
GBenign/Likely benign
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