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Links from MedGen

Items: 1 to 100 of 812

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGHMBP2
(K867*)
Single nucleotide variant
(nonsense)
Charcot-Marie-Tooth disease axonal type 2S
GPathogenic
IGHMBP2
Deletion
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
IGHMBP2
Deletion
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
IGHMBP2
Deletion
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Autosomal recessive distal spinal muscular atrophy 1
+1 more
GLikely benign
LOC126861245, IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2, LOC126861245
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(H728R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(G798R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(Q657fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(S85F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2, LOC126861245
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(Q206R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(E641fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
IGHMBP2
(L415Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(H122N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(P487R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(P405R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(R988K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(Y951C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(S174F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(H620R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(E24K)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(H930Y)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(A813T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(K309M)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(P747R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(G955R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Deletion
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(I561V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(S711T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(I387N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(S180G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(Q853R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(S205P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(L458F)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(R937C)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(G431S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(T107fs)
Insertion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Deletion
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(Q125H)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(A904V)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(K965R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(T631R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(P818T)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(R443P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(E718Q)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(D249G)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(splice donor variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely pathogenic
IGHMBP2
(K220N)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(P184R)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
IGHMBP2
(K298fs)
Deletion
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(R755S)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GUncertain significance
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