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Links from MedGen

Items: 61

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RNASET2
Single nucleotide variant
(splice donor variant)
Cystic leukoencephalopathy without megalencephaly
GPathogenic
RNASET2
(F168L)
Single nucleotide variant
(missense variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(intron variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
(S235R)
Single nucleotide variant
(missense variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
(K133del)
Microsatellite
(inframe_deletion)
Cystic leukoencephalopathy without megalencephaly
+1 more
GUncertain significance
RNASET2
Single nucleotide variant
(splice acceptor variant)
Cystic leukoencephalopathy without megalencephaly
GLikely pathogenic
RNASET2
(P44L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
RNASET2
Single nucleotide variant
(intron variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
LOC129997675, RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LOC129997675, RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
(S188I)
Single nucleotide variant
(missense variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(intron variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
(G8R)
Single nucleotide variant
(missense variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
(S78* +1 more)
Single nucleotide variant
(nonsense)
Cystic leukoencephalopathy without megalencephaly
GPathogenic
RNASET2
(P250S)
Single nucleotide variant
(missense variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(synonymous variant)
Cystic leukoencephalopathy without megalencephaly
+1 more
GConflicting classifications of pathogenicity
RNASET2
Single nucleotide variant
(synonymous variant)
Cystic leukoencephalopathy without megalencephaly
+2 more
GBenign
RNASET2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RNASET2
(S72G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
RNASET2
Single nucleotide variant
(synonymous variant)
Cystic leukoencephalopathy without megalencephaly
+1 more
GBenign/Likely benign
RNASET2
(R236Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
RNASET2
(L238fs)
Duplication
(frameshift variant)
Cystic leukoencephalopathy without megalencephaly
GLikely pathogenic
LOC129997675, RNASET2
Single nucleotide variant
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
LOC129997675, RNASET2
Single nucleotide variant
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
LOC129997675, RNASET2
Single nucleotide variant
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
LOC129997675, RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GBenign
LOC129997675, RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GBenign
LOC129997675, RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
LOC129997675, RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GBenign
LOC129997675, RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
LOC129997675, RNASET2
Deletion
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
LOC129997675, RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Deletion
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(5 prime UTR variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Deletion
(inframe_deletion +1 more)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(synonymous variant)
Cystic leukoencephalopathy without megalencephaly
+1 more
GBenign
RNASET2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RNASET2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
RNASET2
(C75Y)
Single nucleotide variant
(missense variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
(R109S)
Single nucleotide variant
(missense variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(synonymous variant)
Cystic leukoencephalopathy without megalencephaly
+1 more
GConflicting classifications of pathogenicity
RNASET2
(A127V)
Single nucleotide variant
(missense variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RNASET2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RNASET2
(E215K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
RNASET2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
RNASET2
(E218K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
RNASET2
(R236W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign
RNASET2
(F247L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
RNASET2
Single nucleotide variant
(synonymous variant)
Cystic leukoencephalopathy without megalencephaly
GUncertain significance
RNASET2
Deletion
(inframe_deletion)
Cystic leukoencephalopathy without megalencephaly
GPathogenic
RNASET2
Deletion
(splice donor variant)
Cystic leukoencephalopathy without megalencephaly
GPathogenic
RNASET2
Single nucleotide variant
(splice acceptor variant)
Cystic leukoencephalopathy without megalencephaly
GPathogenic
RNASET2
Deletion
(splice acceptor variant +1 more)
Cystic leukoencephalopathy without megalencephaly
GPathogenic
RNASET2
(C184R)
Single nucleotide variant
(missense variant)
Cystic leukoencephalopathy without megalencephaly
GPathogenic
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