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Items: 13

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM2, LOC130063529
(N50S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign
DNM2
(V64I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(synonymous variant)
DNM2-related condition
+3 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNM2
(H80Y)
Single nucleotide variant
(missense variant)
DNM2-related condition
+5 more
GBenign/Likely benign
DNM2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DNM2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+5 more
GBenign/Likely benign
DNM2
(T280M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DNM2
(E368K)
Single nucleotide variant
(missense variant)
DNM2-related condition
+5 more
GPathogenic
DNM2
(K559R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
DNM2
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
DNM2
Single nucleotide variant
(intron variant)
DNM2-related condition
+5 more
GBenign/Likely benign
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