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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR4733HG, LOC111811965
+1 more
(M1V)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GPathogenic
MIR4733HG, LOC111811965
+1 more
(Q11*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
LOC111811965, MIR4733HG
+1 more
(V13A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LOC111811965, MIR4733HG
+1 more
(Q20*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC111811965, MIR4733HG
+1 more
Single nucleotide variant
(splice donor variant)
Neurofibromatosis, type 1
GPathogenic/Likely pathogenic
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