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Links from MedGen

Items: 1 to 100 of 468

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
(S1630R +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis-Noonan syndrome
+1 more
GUncertain significance
NF1
(L1608fs +1 more)
Duplication
(frameshift variant)
Neurofibromatosis-Noonan syndrome
GLikely pathogenic
NF1
Deletion
(splice acceptor variant)
Neurofibromatosis-Noonan syndrome
+2 more
GPathogenic/Likely pathogenic
NF1
(E1238K)
Single nucleotide variant
(missense variant)
Neurofibromatosis-Noonan syndrome
+4 more
GUncertain significance
NF1
(Y998H)
Single nucleotide variant
(missense variant)
Neurofibromatosis-Noonan syndrome
GUncertain significance
NF1
Duplication
(frameshift variant)
Neurofibromatosis-Noonan syndrome
GLikely pathogenic
NF1
(Q1814K +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+4 more
GUncertain significance
NF1
Deletion
(intron variant)
Neurofibromatosis, type 1
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, familial spinal
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis-Noonan syndrome
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, familial spinal
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, familial spinal
+4 more
GLikely benign
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(intron variant)
Neurofibromatosis-Noonan syndrome
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
+4 more
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis-Noonan syndrome
+4 more
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
+4 more
GLikely benign
NF1
(K2279fs +1 more)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
+4 more
GPathogenic
NF1
(M576T)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 1
+4 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
+4 more
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
+4 more
GConflicting classifications of pathogenicity
NF1
(F1458L +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, familial spinal
+4 more
GUncertain significance
NF1
(S1843C +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+4 more
GUncertain significance
NF1
(F2339L +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+4 more
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
+4 more
GLikely benign
NF1
Microsatellite
(intron variant)
Neurofibromatosis, type 1
+4 more
GLikely benign
NF1
Deletion
(nonsense)
Neurofibromatosis, type 1
+4 more
GPathogenic/Likely pathogenic
NF1
(I2814V +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+4 more
GUncertain significance
NF1
(K1661* +1 more)
Duplication
(nonsense)
Neurofibromatosis, familial spinal
+5 more
GPathogenic/Likely pathogenic
NF1
(Y2577H +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+4 more
GUncertain significance
NF1
(H1672R +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+5 more
GUncertain significance
NF1
Indel
(nonsense)
Neurofibromatosis-Noonan syndrome
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Café-au-lait macules with pulmonary stenosis
+2 more
GUncertain significance
NF1
(V2370fs +1 more)
Insertion
(frameshift variant)
Neurofibromatosis-Noonan syndrome
GLikely pathogenic
NF1
Single nucleotide variant
(splice donor variant)
Neurofibromatosis, type 1
+1 more
GPathogenic
NF1
(K2286R +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+5 more
GUncertain significance
NF1
(I1782fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis-Noonan syndrome
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
+7 more
GBenign/Likely benign
NF1
Indel
(intron variant)
Neurofibromatosis, type 1
+5 more
GUncertain significance
NF1
Duplication
(intron variant)
Neurofibromatosis, type 1
+5 more
GBenign/Likely benign
NF1
(R1512fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis-Noonan syndrome
GPathogenic
NF1
Microsatellite
(intron variant)
Neurofibromatosis, type 1
+4 more
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
+6 more
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
+6 more
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
+4 more
GLikely benign
NF1
Single nucleotide variant
(splice acceptor variant)
Juvenile myelomonocytic leukemia
+2 more
GPathogenic
NF1
(E1210*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
+4 more
GPathogenic
NF1
(G1526D +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+4 more
GUncertain significance
NF1
(F1389I +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NF1
(D1464Y +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis-Noonan syndrome
+4 more
GUncertain significance
NF1
(R765C)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+6 more
GUncertain significance
NF1
Deletion
(intron variant)
Hereditary cancer-predisposing syndrome
+5 more
GConflicting classifications of pathogenicity
NF1
(S1776* +1 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis-Noonan syndrome
+4 more
GPathogenic/Likely pathogenic
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GBenign
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
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GBenign
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GBenign
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+4 more
GBenign/Likely benign
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+4 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis-Noonan syndrome
+4 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Café-au-lait macules with pulmonary stenosis
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Café-au-lait macules with pulmonary stenosis
+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
+3 more
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis-Noonan syndrome
+3 more
GBenign/Likely benign
NF1
Single nucleotide variant
(3 prime UTR variant)
Café-au-lait macules with pulmonary stenosis
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Café-au-lait macules with pulmonary stenosis
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis, familial spinal
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Café-au-lait macules with pulmonary stenosis
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GBenign/Likely benign
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis, type 1
+3 more
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, familial spinal
+3 more
GConflicting classifications of pathogenicity
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+4 more
GBenign/Likely benign
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(5 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Café-au-lait macules with pulmonary stenosis
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Café-au-lait macules with pulmonary stenosis
+3 more
GUncertain significance
NF1
Single nucleotide variant
(3 prime UTR variant)
Neurofibromatosis-Noonan syndrome
+4 more
GBenign/Likely benign
NF1
Single nucleotide variant
(3 prime UTR variant)
Café-au-lait macules with pulmonary stenosis
+3 more
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, familial spinal
+4 more
GConflicting classifications of pathogenicity
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