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Items: 96

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
(V54fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Deletion
(splice donor variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(C118fs)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(E126*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(Q129*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
+2 more
GPathogenic
NF1
Deletion
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(C167*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(I183fs)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(L194del)
Deletion
(inframe_deletion)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(E196*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(splice donor variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(F231fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(A323D)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic/Likely pathogenic
NF1
(V341fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
+3 more
GPathogenic
NF1
(I342fs)
Insertion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(S368fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(G453fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(K476E)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(Q514fs)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+5 more
GPathogenic
NF1
(A565fs)
Insertion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(T569fs)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(E572fs)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(K583R)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic/Likely pathogenic
NF1
(S641fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(Q642*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(C673fs)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(I679fs)
Insertion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(L695fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(Y735*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(T750fs)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Indel
(splice donor variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(G910fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(F944fs)
Insertion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Deletion
(splice donor variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(L953*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(A986fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(M1023del)
Deletion
(inframe_deletion)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(M1035fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(M1035K)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+4 more
GPathogenic/Likely pathogenic
NF1
Single nucleotide variant
(splice acceptor variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(W1048R)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(D1059G)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(L1079P)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(Q1101L)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
Microsatellite
(nonsense)
Neurofibromatosis, type 1
GPathogenic/Likely pathogenic
NF1
(D1116fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
NF1
(I1186fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(E1192*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(T1199fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(M1214fs)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(M1214fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(M1260fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(E1264fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(V1291*)
Insertion
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(Y1292*)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
Deletion
(inframe_deletion)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(G1417fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(S1422fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(F1457* +1 more)
Insertion
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(V1483fs +1 more)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(Y1500* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(D1516del +1 more)
Indel
(inframe_deletion)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(A1519E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NF1
(R1591S +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(K1640* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(W1641* +1 more)
Single nucleotide variant
(nonsense)
Juvenile myelomonocytic leukemia
+4 more
GPathogenic
NF1
(Y1659* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(V1736G +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(N1776fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(T1779P +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(I1804fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(I1824T +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(splice donor variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(F1863L +1 more)
Single nucleotide variant
(missense variant)
Juvenile myelomonocytic leukemia
+1 more
GPathogenic/Likely pathogenic
NF1
(Q1981fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(D1987H +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(S1997R +1 more)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
NF1
(T2013fs +1 more)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(L2142fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
NF1
(P2168fs +1 more)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(F2176fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(N2220fs +1 more)
Microsatellite
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(Q2224fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(splice donor variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(splice acceptor variant)
Neurofibromatosis, type 1
+2 more
GPathogenic
NF1
(G2313R +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(I2329fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(K2333* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(V2370fs +1 more)
Deletion
(frameshift variant)
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
NF1
(K2438fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Deletion
Neurofibromatosis, type 1
GPathogenic
NF1
(S2576fs +1 more)
Insertion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(L2584fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
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