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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CIZ1, DNM1
(R15Q)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 31A
+1 more
GConflicting classifications of pathogenicity
CIZ1, DNM1
(L16M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GBenign
LOC113839516, DNM1
(T111S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
DNM1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GLikely benign
DNM1
(R217H)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 31A
GUncertain significance
DNM1
(R237W)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 31A
+2 more
GPathogenic
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