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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SCARB2
(E471G +1 more)
Single nucleotide variant
(missense variant)
Action myoclonus-renal failure syndrome
Gnot provided
SCARB2
(G462fs +1 more)
Indel
(frameshift variant)
Action myoclonus-renal failure syndrome
Gnot provided
SCARB2
(R424* +1 more)
Single nucleotide variant
(nonsense)
Progressive myoclonic epilepsy
+2 more
GPathogenic
SCARB2
(E420fs +1 more)
Deletion
(frameshift variant)
Action myoclonus-renal failure syndrome
GPathogenic
SCARB2
Single nucleotide variant
(splice donor variant)
Action myoclonus-renal failure syndrome
GPathogenic
SCARB2
Duplication
(splice donor variant)
Progressive myoclonic epilepsy
GUncertain significance
SCARB2
Single nucleotide variant
(splice acceptor variant)
Action myoclonus-renal failure syndrome
GPathogenic
SCARB2
(H363N +1 more)
Single nucleotide variant
(missense variant)
Action myoclonus-renal failure syndrome
Gnot provided
SCARB2
(H198fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
SCARB2
(Q288* +1 more)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic
SCARB2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
+2 more
GUncertain significance
SCARB2
Single nucleotide variant
(intron variant +1 more)
Action myoclonus-renal failure syndrome
Gnot provided
SCARB2
Single nucleotide variant
(intron variant +1 more)
Progressive myoclonic epilepsy
+1 more
GPathogenic
SCARB2
Deletion
(nonsense +1 more)
Progressive myoclonic epilepsy
GPathogenic
SCARB2
(W178*)
Single nucleotide variant
(nonsense +1 more)
Action myoclonus-renal failure syndrome
GPathogenic
SCARB2
(W146fs)
Microsatellite
(frameshift variant +1 more)
Action myoclonus-renal failure syndrome
+3 more
GPathogenic
SCARB2
Single nucleotide variant
(intron variant +1 more)
Action myoclonus-renal failure syndrome
Gnot provided
SCARB2
(R121*)
Single nucleotide variant
(nonsense +1 more)
Progressive myoclonic epilepsy
+2 more
GPathogenic/Likely pathogenic
SCARB2
(N99fs)
Deletion
(frameshift variant +1 more)
Action myoclonus-renal failure syndrome
Gnot provided
SCARB2
(I37fs)
Deletion
(frameshift variant)
Action myoclonus-renal failure syndrome
Gnot provided
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