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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RUVBL1, SEC61A1
(S216L +2 more)
Single nucleotide variant
(missense variant +1 more)
Hyperuricemic nephropathy, familial juvenile type 4
GUncertain significance
SEC61A1
(I100T +2 more)
Single nucleotide variant
(missense variant)
Hyperuricemic nephropathy, familial juvenile type 4
GUncertain significance
SEC61A1
(L36F +2 more)
Single nucleotide variant
(missense variant)
Hyperuricemic nephropathy, familial juvenile type 4
GLikely pathogenic
SEC61A1
(F62L +2 more)
Single nucleotide variant
(missense variant)
Hyperuricemic nephropathy, familial juvenile type 4
GPathogenic
SEC61A1
Single nucleotide variant
(intron variant)
Hyperuricemic nephropathy, familial juvenile type 4
GUncertain significance
RUVBL1, SEC61A1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
ABCG5
(A98G)
Single nucleotide variant
(missense variant)
Sitosterolemia
+6 more
GConflicting classifications of pathogenicity
SEC61A1
(V67G)
Single nucleotide variant
(missense variant)
Hyperuricemic nephropathy, familial juvenile type 4
GPathogenic
SEC61A1
(T185A)
Single nucleotide variant
(missense variant)
Hyperuricemic nephropathy, familial juvenile type 4
GPathogenic
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