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Links from MedGen

Items: 1 to 100 of 1651

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NF2
Duplication
Neurofibromatosis, type 2
GUncertain significance
NF2
Duplication
Neurofibromatosis, type 2
GUncertain significance
NF2
Duplication
Neurofibromatosis, type 2
GUncertain significance
NF2
Duplication
Neurofibromatosis, type 2
GUncertain significance
NF2
Deletion
Neurofibromatosis, type 2
GPathogenic
NF2
Deletion
Neurofibromatosis, type 2
GPathogenic
AP1B1, EMID1
+10 more
Deletion
Neurofibromatosis, type 2
GPathogenic
NF2
Deletion
Neurofibromatosis, type 2
GPathogenic
NF2
Deletion
Neurofibromatosis, type 2
GUncertain significance
NF2
Deletion
Neurofibromatosis, type 2
GUncertain significance
NF2
Deletion
Neurofibromatosis, type 2
GPathogenic
AP1B1, C22orf31
+17 more
Deletion
Neurofibromatosis, type 2
GPathogenic
NF2
(H384P +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(V27I)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(synonymous variant +2 more)
Neurofibromatosis, type 2
+1 more
GLikely benign
NF2
(I171V +6 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(I118M +8 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(E363K +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
(Q360H +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(A116D +6 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(M191T +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(synonymous variant +2 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(synonymous variant +2 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(synonymous variant +2 more)
Neurofibromatosis, type 2
GLikely benign
NF2
(F423L +8 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
(P128S +5 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(S354fs +8 more)
Deletion
(frameshift variant +1 more)
Neurofibromatosis, type 2
GLikely pathogenic
NF2
(L371F +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(G146D +6 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
(A195E +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(synonymous variant +2 more)
Neurofibromatosis, type 2
GLikely benign
NF2
(N180S +6 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GUncertain significance
NF2
(S114C +5 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(Q123K +5 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(L322F +8 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Duplication
(intron variant)
Neurofibromatosis, type 2
GBenign
NF2
(A248T +8 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(K117R +5 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(synonymous variant +2 more)
Neurofibromatosis, type 2
GLikely benign
NF2
(G146V +6 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(E164A +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(synonymous variant +1 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(synonymous variant +1 more)
Neurofibromatosis, type 2
GLikely benign
NF2
(K395R +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(A135T +8 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(I75F +3 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(synonymous variant +1 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
(M9T)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GUncertain significance
NF2
(H117Y +5 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(D201N +6 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(L49M +1 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(K465I +8 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
(I309F +8 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+1 more
GUncertain significance
NF2
(V15A +3 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Microsatellite
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
(A140V +6 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(synonymous variant +2 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(synonymous variant +2 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
(H42Y +3 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(E341G +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(synonymous variant +2 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(5 prime UTR variant +1 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GUncertain significance
NF2
(K234N +8 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(E467A +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(5 prime UTR variant +1 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(synonymous variant +1 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Deletion
(inframe_deletion +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(K40* +1 more)
Single nucleotide variant
(nonsense +2 more)
Neurofibromatosis, type 2
GPathogenic
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
(M33V)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(P415R +8 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(E132* +6 more)
Single nucleotide variant
(nonsense +1 more)
Neurofibromatosis, type 2
GPathogenic
NF2
Single nucleotide variant
(synonymous variant +1 more)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
(L264P +8 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
Single nucleotide variant
(intron variant)
Neurofibromatosis, type 2
GLikely benign
NF2
(D45G +5 more)
Single nucleotide variant
(missense variant +2 more)
Neurofibromatosis, type 2
GUncertain significance
NF2
(E138fs +6 more)
Deletion
(frameshift variant +1 more)
Neurofibromatosis, type 2
GPathogenic
NF2
(E499D +8 more)
Single nucleotide variant
(missense variant +1 more)
Neurofibromatosis, type 2
GUncertain significance
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