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Items: 1 to 100 of 739

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRSAM1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(V670M +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(V644M +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(Q56K)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(R252S)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(N55S +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(T64M)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(P378L +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(R8G)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Duplication
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GBenign
LRSAM1
(G124R)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(P214S)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(Q461R +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(Q253* +2 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GPathogenic
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(R539G +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(H592R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(H330R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Deletion
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(M174I +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(G573E +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(E510fs +2 more)
Duplication
(frameshift variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GPathogenic
LRSAM1
(S499P +1 more)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(K613E +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Deletion
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(P444R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(Q671* +3 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely pathogenic
LRSAM1
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(T239R)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Duplication
(inframe_insertion +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(S351P +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(D144A)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(R232L)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(Q678* +3 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely pathogenic
LRSAM1
Deletion
(nonsense +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely pathogenic
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(synonymous variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(E321A +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(A639fs +3 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely pathogenic
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(E375fs +3 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GPathogenic
LRSAM1
(M467I +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(Q283E +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(synonymous variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely pathogenic
LRSAM1
(S170L +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(P189T)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(Y143C +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(R10P +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(M185V)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(I44M)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(A50P)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(C645R +3 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(L270R +2 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
Single nucleotide variant
(splice acceptor variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely pathogenic
LRSAM1
(Q310* +3 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GPathogenic
LRSAM1
(H281R +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
Single nucleotide variant
(5 prime UTR variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(I101M +1 more)
Single nucleotide variant
(missense variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(C193Y)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(Q51* +1 more)
Single nucleotide variant
(nonsense +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GPathogenic
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
LRSAM1
(R121C)
Single nucleotide variant
(missense variant +2 more)
Charcot-Marie-Tooth disease axonal type 2P
GUncertain significance
LRSAM1
(H659fs +3 more)
Deletion
(frameshift variant +1 more)
Charcot-Marie-Tooth disease axonal type 2P
GPathogenic
LRSAM1
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2P
GLikely benign
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