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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC45A2
(A511E)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
OCA2
(D417N +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
OCA2
(A355V)
Indel
(missense variant +1 more)
not provided
GUncertain significance
TYRP1, LURAP1L-AS1
Deletion
(splice donor variant)
not provided
GUncertain significance
OCA2
Deletion
not provided
GPathogenic
TYR
(R299C)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+1 more
GPathogenic
SLC45A2
(A511V)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
LURAP1L-AS1, TYRP1
(Q512*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
TYRP1
(D86Y)
Single nucleotide variant
(missense variant)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
OCA2
(A787V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
OCA2
(A787E +1 more)
Single nucleotide variant
(missense variant)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
OCA2
Single nucleotide variant
(intron variant)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
OCA2
(S641L +1 more)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
+1 more
GConflicting classifications of pathogenicity
OCA2
(D486Y +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
Duplication
(splice donor variant)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
OCA2
(A355V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
OCA2
(R352S)
Single nucleotide variant
(missense variant +1 more)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
OCA2
Single nucleotide variant
(intron variant)
not provided
+1 more
GPathogenic/Likely pathogenic
OCA2
(Q330fs)
Indel
(frameshift variant)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
TYR
Single nucleotide variant
(splice donor variant)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
TYR
(G346E)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+5 more
GPathogenic/Likely pathogenic
TYR
Single nucleotide variant
(intron variant)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
TYR
Deletion
(inframe_deletion)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
TYR
(W195*)
Single nucleotide variant
(nonsense)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
TYR
(D75Y)
Single nucleotide variant
(missense variant)
Nonsyndromic Oculocutaneous Albinism
GLikely pathogenic
TYR
(C55S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
(D441G +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
OCA2
(G359R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
TYR
(G346V)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+2 more
GPathogenic
OCA2
(T404M +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TYR
(R299S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
TYR
(R278*)
Single nucleotide variant
(nonsense)
not provided
+6 more
GPathogenic
TYR
(R217Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TYR
(R402*)
Single nucleotide variant
(nonsense)
Abnormality of the skin
+3 more
GPathogenic
TYR
Single nucleotide variant
(intron variant)
Ocular albinism
+10 more
GPathogenic/Likely pathogenic
LURAP1L-AS1, TYRP1
(R356Q)
Single nucleotide variant
(missense variant)
Skin/hair/eye pigmentation, variation in, 11
+3 more
GPathogenic/Likely pathogenic
TYR
(R299H)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+5 more
GPathogenic
TYR
(R217W)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+4 more
GConflicting classifications of pathogenicity
TYR
(G419R)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+4 more
GPathogenic
TYR
(P406L)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+8 more
GPathogenic/Likely pathogenic
TYR
(D383N)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+7 more
GPathogenic
OCA2
(P743L +1 more)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
+2 more
GPathogenic/Likely pathogenic
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