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Links from MedGen

Items: 1 to 100 of 799

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPN11
(Y262N +1 more)
Single nucleotide variant
(missense variant)
Noonan syndrome 1
+3 more
GLikely pathogenic
CBL
(S145C)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(L2572fs +1 more)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(D374fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GPathogenic
NF1
(Y628fs)
Indel
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(S666fs)
Microsatellite
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(Y1614fs +1 more)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(A152fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(V2711fs +1 more)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(K2039fs +1 more)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(D251*)
Duplication
(nonsense)
Juvenile myelomonocytic leukemia
GPathogenic
NF1
(H1720fs +1 more)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(S592fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
Deletion
(nonsense)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(Y49fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
Single nucleotide variant
(splice acceptor variant)
Juvenile myelomonocytic leukemia
GPathogenic
NF1
(Y2621* +1 more)
Single nucleotide variant
(nonsense)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(V759fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(W2691* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
+1 more
GPathogenic/Likely pathogenic
NF1
(N1229fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(S1745fs +1 more)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
Deletion
(nonsense)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(T107fs)
Duplication
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(D1955H +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(S361fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(Y735S)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(T2443fs +1 more)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(T2443fs +1 more)
Duplication
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(L1340V)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(H2786Q +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(G1293fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(T2792I +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
Deletion
(inframe deletion)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(L2442fs +1 more)
Insertion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(T788del)
Microsatellite
(inframe deletion)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(T2443N +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(K1390R)
Single nucleotide variant
(missense variant +1 more)
Juvenile myelomonocytic leukemia
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(R16G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(G859fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(Q1101R)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(S1279C)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(E1898V +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(T889I)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(I791L)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(H729P)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(G528E)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(A966P)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(N857D)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(A323fs)
Duplication
(frameshift variant)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(T811A)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(Q950E)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(Y735C)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(K1448E +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(N151I)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(G1481D +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(W2208C +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(V207F)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(S833P)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(S1053P)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(L1274P)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
Duplication
(nonsense)
Juvenile myelomonocytic leukemia
GLikely pathogenic
NF1
(D888G)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(A1075R)
Indel
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(S2334R +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(R2804S +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
(D1480Y +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Juvenile myelomonocytic leukemia
GUncertain significance
CBL
(I885T)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+1 more
GUncertain significance
NF1
(F2367V +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+1 more
GUncertain significance
NF1
(V1231I)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
NF1
(K1614R +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+2 more
GUncertain significance
NF1
Single nucleotide variant
(splice donor variant)
Juvenile myelomonocytic leukemia
+1 more
GPathogenic/Likely pathogenic
NF1
(F894fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
+1 more
GPathogenic/Likely pathogenic
NF1
(A1228fs)
Deletion
(frameshift variant)
Juvenile myelomonocytic leukemia
+1 more
GPathogenic/Likely pathogenic
NF1
(E1722K +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+1 more
GUncertain significance
NF1
(V1656fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
+1 more
GPathogenic/Likely pathogenic
NF1
(R1391I +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+1 more
GPathogenic/Likely pathogenic
NF1
Single nucleotide variant
(splice donor variant)
Neurofibromatosis, type 1
+1 more
GPathogenic/Likely pathogenic
NF1
(S2549* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
+1 more
GPathogenic/Likely pathogenic
NF1
(W2691* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
+1 more
GPathogenic
NF1
(Q2267* +1 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
NF1
(Q2207R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
NF1
(S1954* +1 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
NF1
(S1561G +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+2 more
GUncertain significance
NF1
(K1345R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
NF1
(A132T)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
NF1
(E1266G)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+3 more
GUncertain significance
NF1
(M1225T)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+1 more
GUncertain significance
NF1
(A545S)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
+3 more
GUncertain significance
CBL
(R480Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
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, type 1
+4 more
GLikely benign
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