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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IGHMBP2
(Q51E)
Single nucleotide variant
(missense variant)
Autosomal recessive distal spinal muscular atrophy 1
+5 more
GBenign/Likely benign
IGHMBP2
Single nucleotide variant
(intron variant)
Autosomal recessive distal spinal muscular atrophy 1
+5 more
GBenign/Likely benign
IGHMBP2
(Q302*)
Single nucleotide variant
(nonsense)
Autosomal recessive distal spinal muscular atrophy 1
+1 more
GPathogenic/Likely pathogenic
IGHMBP2
Single nucleotide variant
(synonymous variant)
Charcot-Marie-Tooth disease axonal type 2S
+4 more
GConflicting classifications of pathogenicity
IGHMBP2
(R971fs)
Microsatellite
(frameshift variant)
Charcot-Marie-Tooth disease axonal type 2S
+4 more
GPathogenic/Likely pathogenic
IGHMBP2
Single nucleotide variant
(synonymous variant)
Autosomal recessive distal spinal muscular atrophy 1
+5 more
GBenign
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