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Links from MedGen

Items: 1 to 100 of 11699

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF1
Deletion
(splice donor variant)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(I177T)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(M1440fs +1 more)
Microsatellite
(frameshift variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(F358fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(Q543R)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Deletion
(intron variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Deletion
(nonsense)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(A131fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
Deletion
(inframe_deletion)
Neurofibromatosis, type 1
GUncertain significance
NF1
(M881fs)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(E1747fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(G140E)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(Y579C)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(R2062C +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(Y1607C +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(V2025G +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(M68V)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(R1391K +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GLikely pathogenic
NF1
(G2260R +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(G1526S +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(Q2567L +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(I2243M +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(R416G)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(G672E)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(V2588A +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(S2813R +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(M1180I)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(L1622F +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(D1091G)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(L1541F +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(I1592V +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(T862I)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(T750I)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(S2565fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(D170E)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(I1186F)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(E1089G)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(F2135L +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(G1160fs)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(A431S)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(S2235G +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(V1076I)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(I766T)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(P1819R +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
(N2833fs +1 more)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(Y2081* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
(A2058fs +1 more)
Deletion
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(Q1948* +1 more)
Single nucleotide variant
(nonsense)
Neurofibromatosis, type 1
GPathogenic
NF1
Single nucleotide variant
(splice donor variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(M1050T)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(F1110L)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(V212fs)
Duplication
(frameshift variant)
Neurofibromatosis, type 1
GPathogenic
NF1
(S2446A +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Duplication
(splice donor variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
(S2834N +1 more)
Single nucleotide variant
(missense variant)
Neurofibromatosis, type 1
GUncertain significance
NF1
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
NF1
Single nucleotide variant
(synonymous variant)
Neurofibromatosis, type 1
GLikely benign
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