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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM1, LOC113839516
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DNM1, LOC113839516
(V70L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNM1, LOC113839516
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
DNM1, LOC113839516
(V118L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DNM1, LOC113839516
(Q148K)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 31A
+1 more
GLikely pathogenic
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