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Links from PubMed

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCA2
Microsatellite
(intron variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
OCA2
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
OCA2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
OCA2
Deletion
not provided
GPathogenic
OCA2
(A368V)
Single nucleotide variant
(missense variant +1 more)
Tyrosinase-positive oculocutaneous albinism
+4 more
GConflicting classifications of pathogenicity
TYR
Single nucleotide variant
(intron variant)
Ocular albinism
+10 more
GPathogenic/Likely pathogenic
TYR
(P81L)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 1B
+7 more
GPathogenic
OCA2
(V443I +1 more)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
+5 more
GPathogenic/Likely pathogenic
OCA2
Single nucleotide variant
(splice donor variant)
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
+2 more
GPathogenic/Likely pathogenic
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