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Links from MedGen

Items: 1 to 100 of 1144

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGHMBP2
(H401Q)
Single nucleotide variant
(missense variant)
Autosomal recessive distal spinal muscular atrophy 1
GLikely pathogenic
IGHMBP2
Single nucleotide variant
(synonymous variant)
Autosomal recessive distal spinal muscular atrophy 1
+1 more
GLikely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Autosomal recessive distal spinal muscular atrophy 1
+1 more
GLikely benign
IGHMBP2
(L361fs)
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
(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
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2, LOC126861245
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
(V409fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
IGHMBP2
(P557fs)
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
(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
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
(H213P)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely pathogenic
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
(G266fs)
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
Microsatellite
(nonsense)
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
Duplication
(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
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
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
Deletion
(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
(R943*)
Single nucleotide variant
(nonsense)
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
(P963fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
IGHMBP2
(S856*)
Single nucleotide variant
(nonsense)
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
(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
Deletion
(splice donor variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely pathogenic
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
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
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
(L626fs)
Deletion
(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
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, LOC126861245
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(Q230*)
Single nucleotide variant
(nonsense)
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
(L950fs)
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
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2
(H411fs)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
IGHMBP2
(L623fs)
Duplication
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GPathogenic
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
(A94fs)
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
(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
Deletion
(splice donor variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely pathogenic
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
Single nucleotide variant
(intron variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
IGHMBP2, LOC126861245
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
Deletion
(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
(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
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, 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
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
(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
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+1 more
GLikely benign
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