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Items: 15

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRRC37A2, WNT3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign/Likely benign
LRRC37A2, WNT3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LRRC37A2, WNT3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
LRRC37A2, WNT3
(T17S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GOSR2, LRRC37A2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GBenign
GOSR2, LRRC37A2
(P3T)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
GOSR2, LRRC37A2
Single nucleotide variant
(5 prime UTR variant +1 more)
Progressive myoclonic epilepsy
+1 more
GUncertain significance
LRRC37A2, GOSR2
Single nucleotide variant
(5 prime UTR variant +1 more)
Progressive myoclonic epilepsy
+3 more
GConflicting classifications of pathogenicity
GOSR2, LRRC37A2
(E14K)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
LRRC37A2, GOSR2
(M19V +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
+2 more
GUncertain significance
GOSR2, LRRC37A2
(M19I +1 more)
Single nucleotide variant
(missense variant +2 more)
Progressive myoclonic epilepsy
+1 more
GUncertain significance
GOSR2, LOC126862578
+1 more
(R49Q +2 more)
Indel
(missense variant +1 more)
Progressive myoclonic epilepsy
+1 more
GUncertain significance
GOSR2, LOC126862578
+1 more
(R67K +2 more)
Single nucleotide variant
(missense variant +1 more)
Myoclonic epilepsy, progressive, X-linked
+5 more
GBenign
GOSR2, LRRC37A2
Single nucleotide variant
(synonymous variant +2 more)
Progressive myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
GOSR2, LRRC37A2
Single nucleotide variant
(intron variant)
Progressive myoclonic epilepsy
+1 more
GConflicting classifications of pathogenicity
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