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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTPRO
(W1048G +3 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 6
GUncertain significance
PTPRO
(V1112M +3 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 6
GUncertain significance
PTPRO
(Y135H +3 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 6
GUncertain significance
PTPRO
(P106L +3 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 6
GUncertain significance
PTPRO
Deletion
(intron variant)
Nephrotic syndrome, type 6
+1 more
GBenign
PTPRO
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
PTPRO
Single nucleotide variant
(synonymous variant +1 more)
Nephrotic syndrome, type 6
+1 more
GBenign/Likely benign
PTPRO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PTPRO
(M166T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
PTPRO
(M537I)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 6
+2 more
GUncertain significance
PTPRO
Single nucleotide variant
(intron variant)
Nephrotic syndrome, type 6
+1 more
GBenign/Likely benign
PTPRO
(N370K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
PTPRO
(L598V)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 6
GUncertain significance
PTPRO
(T578I)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 6
GUncertain significance
PTPRO
(G1138A +3 more)
Single nucleotide variant
(missense variant)
Nephrotic syndrome, type 6
+1 more
GConflicting classifications of pathogenicity
PTPRO
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
LOC126861467, PTPRO
Single nucleotide variant
(synonymous variant)
Nephrotic syndrome, type 6
+1 more
GBenign/Likely benign
PTPRO
Single nucleotide variant
(synonymous variant)
Nephrotic syndrome, type 6
+1 more
GBenign/Likely benign
PTPRO
Single nucleotide variant
(synonymous variant)
Nephrotic syndrome, type 6
+1 more
GBenign
PTPRO
Single nucleotide variant
(splice donor variant)
Nephrotic syndrome, type 6
GPathogenic
PTPRO
Single nucleotide variant
(splice donor variant)
Nephrotic syndrome, type 6
GPathogenic
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