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Links from MedGen

Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCRL
Single nucleotide variant
(splice donor variant)
Dent disease type 2
GPathogenic
OCRL
Single nucleotide variant
(splice acceptor variant)
Dent disease type 2
GPathogenic
OCRL
(Q38fs +1 more)
Deletion
(frameshift variant)
Dent disease type 2
GLikely pathogenic
OCRL
(E729K +2 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
GLikely pathogenic
OCRL
(N36fs +1 more)
Deletion
(frameshift variant)
Dent disease type 2
GLikely pathogenic
OCRL
(M397K +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
GUncertain significance
OCRL
(W486* +1 more)
Single nucleotide variant
(nonsense)
Dent disease type 2
GPathogenic
OCRL
(L73fs +1 more)
Deletion
(frameshift variant)
Dent disease type 2
GPathogenic
OCRL
Single nucleotide variant
(splice donor variant)
Dent disease type 2
GLikely pathogenic
OCRL
(R95H +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
+1 more
GBenign/Likely benign
OCRL
Duplication
(intron variant)
Dent disease type 2
+1 more
GBenign/Likely benign
OCRL
(M188I +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
+1 more
GUncertain significance
OCRL
(V630A +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
+2 more
GUncertain significance
OCRL
(R318H +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
+1 more
GPathogenic/Likely pathogenic
OCRL
(T32I +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
+1 more
GUncertain significance
OCRL
(I55T +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
+1 more
GUncertain significance
OCRL
(K714R +1 more)
Single nucleotide variant
(missense variant +1 more)
Lowe syndrome
+1 more
GUncertain significance
OCRL
(Y40H +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
+1 more
GConflicting classifications of pathogenicity
OCRL
(T15A +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
+2 more
GUncertain significance
OCRL
(H51R +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
+2 more
GBenign/Likely benign
OCRL
(K312E +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
+1 more
GUncertain significance
OCRL
(S143F +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
+3 more
GConflicting classifications of pathogenicity
OCRL
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OCRL
(R689H +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
+2 more
GConflicting classifications of pathogenicity
OCRL
(P178fs +1 more)
Deletion
(frameshift variant)
Dent disease type 2
GLikely pathogenic
OCRL
(R876del +2 more)
Deletion
(inframe_deletion)
Dent disease type 2
GUncertain significance
OCRL
Single nucleotide variant
(intron variant)
Dent disease type 2
GUncertain significance
LOC113875008, OCRL
(P4L)
Single nucleotide variant
(missense variant)
Lowe syndrome
+2 more
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Dent disease type 2
GPathogenic
OCRL
Single nucleotide variant
(splice donor variant)
Dent disease type 2
+1 more
GPathogenic/Likely pathogenic
OCRL
(P693L +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
GPathogenic
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
+1 more
GBenign
OCRL
(V855I +2 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
+2 more
GConflicting classifications of pathogenicity
OCRL
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
+1 more
GBenign/Likely benign
OCRL
(R814* +2 more)
Single nucleotide variant
(nonsense)
Lowe syndrome
+1 more
GPathogenic
OCRL
(E125D +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
+3 more
GBenign/Likely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
+3 more
GBenign/Likely benign
OCRL
(G257R +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
+2 more
GConflicting classifications of pathogenicity
INPP5B
(A51V)
Single nucleotide variant
(5 prime UTR variant +3 more)
Dent disease type 2
GLikely pathogenic
OCRL
Deletion
(splice donor variant)
Dent disease type 2
GLikely pathogenic
OCRL
(G347E +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
OCRL
Single nucleotide variant
(intron variant)
not provided
+3 more
GPathogenic/Likely pathogenic
OCRL
Deletion
Dent disease type 2
GPathogenic
OCRL
Deletion
Dent disease type 2
GPathogenic
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
+4 more
GBenign/Likely benign
OCRL
(R493W +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
GPathogenic
OCRL
(N354H +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
Gnot provided
OCRL
(I56fs +1 more)
Deletion
(frameshift variant)
Dent disease type 2
GPathogenic
OCRL
(I533T +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
GPathogenic
OCRL
(R318C +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
OCRL
(Y479C +1 more)
Single nucleotide variant
(missense variant)
Dent disease type 2
GPathogenic
OCRL
(R836* +2 more)
Single nucleotide variant
(nonsense)
Lowe syndrome
+2 more
GPathogenic
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