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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM2
(I232T)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
DNM2
(R66Q)
Single nucleotide variant
(missense variant)
Fetal akinesia-cerebral and retinal hemorrhage syndrome
+2 more
GUncertain significance
DNM2
(G786C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease dominant intermediate B
GUncertain significance
DNM2
(H727Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(intron variant)
Autosomal dominant centronuclear myopathy
+4 more
GBenign
DNM2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
DNM2
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign/Likely benign
DNM2
(F379V)
Single nucleotide variant
(missense variant)
Fetal akinesia-cerebral and retinal hemorrhage syndrome
+1 more
GConflicting classifications of pathogenicity
DNM2
(S619L +1 more)
Single nucleotide variant
(missense variant)
Fetal akinesia-cerebral and retinal hemorrhage syndrome
+3 more
GPathogenic/Likely pathogenic
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