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Links from MedGen

Items: 1 to 100 of 579

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCRL
(Q594* +1 more)
Single nucleotide variant
(nonsense)
Lowe syndrome
GLikely pathogenic
OCRL
(Q819* +2 more)
Single nucleotide variant
(nonsense)
Lowe syndrome
GPathogenic
OCRL
Deletion
(splice acceptor variant)
Lowe syndrome
GLikely pathogenic
OCRL
(R836Q +2 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GLikely benign
OCRL
(I739M +2 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GUncertain significance
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
+1 more
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GUncertain significance
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
(M868K +2 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
LOC113875008, OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
(S183L +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GUncertain significance
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Deletion
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
(R241K +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GUncertain significance
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
+1 more
GUncertain significance
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
(R190P +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GUncertain significance
OCRL
(R493Q +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GLikely pathogenic
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
LOC113875008, OCRL
(P6L)
Single nucleotide variant
(missense variant)
Lowe syndrome
GLikely benign
OCRL
Duplication
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GBenign
OCRL
(R96C +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GUncertain significance
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
LOC113875008, OCRL
(Q10L)
Single nucleotide variant
(missense variant)
Lowe syndrome
GUncertain significance
OCRL
Duplication
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
(R190C +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
(E585G +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GUncertain significance
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
(H61R +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
(L711R +1 more)
Single nucleotide variant
(missense variant +1 more)
Lowe syndrome
GLikely benign
OCRL
(T507A +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GLikely benign
OCRL
Duplication
(intron variant)
Lowe syndrome
GBenign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant +1 more)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(splice donor variant)
Lowe syndrome
GLikely pathogenic
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
(E260Q +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GUncertain significance
OCRL
(D466H +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GUncertain significance
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
Deletion
(intron variant)
Lowe syndrome
GBenign
OCRL
Single nucleotide variant
(intron variant)
Lowe syndrome
GLikely benign
OCRL
(Q115R +1 more)
Single nucleotide variant
(missense variant)
Lowe syndrome
GUncertain significance
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Single nucleotide variant
(synonymous variant)
Lowe syndrome
GLikely benign
OCRL
Deletion
(intron variant)
Lowe syndrome
GLikely benign
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