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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130002699, DNM1
(S807C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
DNM1, LOC130002699
(G810V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
DNM1, LOC130002699
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 31
+3 more
GLikely benign
DNM1, LOC130002699
(P816H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
DNM1, LOC130002699
(P825L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
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