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Items: 1 to 100 of 245

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
OCA2
Single nucleotide variant
(splice acceptor variant)
Tyrosinase-positive oculocutaneous albinism
GPathogenic
OCA2
(A662fs +1 more)
Duplication
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GPathogenic/Likely pathogenic
OCA2
(S59fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
OCA2
(M371V +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
GPathogenic
OCA2
(E253fs)
Deletion
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
GPathogenic
OCA2
Deletion
(splice acceptor variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
(V270fs)
Deletion
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
(A355E)
Single nucleotide variant
(missense variant +1 more)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
(H673Y +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
(S470F +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
(F569S +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
(K601R +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
Microsatellite
(intron variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
OCA2
(R787S +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
OCA2
(L393fs +1 more)
Duplication
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
GPathogenic
OCA2
(Y778fs +1 more)
Duplication
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
Single nucleotide variant
(intron variant)
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
+3 more
GConflicting classifications of pathogenicity
OCA2
(A55fs)
Duplication
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
+2 more
GPathogenic/Likely pathogenic
OCA2
Single nucleotide variant
(splice donor variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GLikely pathogenic
OCA2
(E125fs)
Microsatellite
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GPathogenic/Likely pathogenic
OCA2
(F720fs +1 more)
Duplication
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
GPathogenic
OCA2
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
OCA2
Single nucleotide variant
(splice donor variant)
Tyrosinase-positive oculocutaneous albinism
GPathogenic
OCA2
(R305Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
(A546fs +1 more)
Insertion
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
(P315S)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
OCA2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic
OCA2
(G359D)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
OCA2
Deletion
(nonsense)
Tyrosinase-positive oculocutaneous albinism
+1 more
GPathogenic
OCA2
Single nucleotide variant
(splice donor variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GPathogenic
OCA2
(R531C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
OCA2
(G75E)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
OCA2
(G393V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OCA2
(A14V)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+3 more
GConflicting classifications of pathogenicity
OCA2
(T458P +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
(E526K +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
Single nucleotide variant
(splice donor variant)
Tyrosinase-positive oculocutaneous albinism
GPathogenic
OCA2
Single nucleotide variant
(synonymous variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
(F292L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GBenign
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GBenign
OCA2
(R290G)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
+2 more
GPathogenic/Likely pathogenic
OCA2
(T426M +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+3 more
GConflicting classifications of pathogenicity
OCA2
(L637F +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
Deletion
Tyrosinase-positive oculocutaneous albinism
GPathogenic
OCA2
Deletion
Tyrosinase-positive oculocutaneous albinism
GPathogenic
OCA2
(R53fs)
Deletion
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
+2 more
GPathogenic/Likely pathogenic
OCA2
(L503R +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+2 more
GConflicting classifications of pathogenicity
MC1R
(A105T)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+3 more
GUncertain significance
OCA2
(R172K)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
MC1R
(P268R)
Single nucleotide variant
(missense variant)
Melanoma, cutaneous malignant, susceptibility to, 5
+3 more
GUncertain significance
OCA2
(S283R)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+2 more
GUncertain significance
OCA2
(V529fs +1 more)
Deletion
(frameshift variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
OCA2
(L416S +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GLikely pathogenic
MC1R
(V193M)
Single nucleotide variant
(missense variant)
Increased analgesia from kappa-opioid receptor agonist, female-specific
+3 more
GUncertain significance
OCA2
Single nucleotide variant
(splice donor variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GLikely pathogenic
OCA2
(T387M +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
(D384N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
(I593L +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(3 prime UTR variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GUncertain significance
OCA2
Single nucleotide variant
(3 prime UTR variant)
Tyrosinase-positive oculocutaneous albinism
GLikely benign
OCA2
Single nucleotide variant
(3 prime UTR variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
Single nucleotide variant
(3 prime UTR variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
Single nucleotide variant
(3 prime UTR variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
(R36C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
OCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
(R397W +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
OCA2
(M422V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
OCA2
(M446T +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
(N218K)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
(V251M)
Single nucleotide variant
(missense variant)
OCA2-related condition
+2 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(synonymous variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
(L739M +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GUncertain significance
OCA2
(P742T +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(synonymous variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(synonymous variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
Single nucleotide variant
(synonymous variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
(A343T)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
(I544T +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GUncertain significance
OCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
OCA2
(R564W +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(intron variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
(F804L +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
OCA2
(G789D +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
GUncertain significance
OCA2
(G751D +1 more)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
+2 more
GPathogenic/Likely pathogenic
OCA2
(A763T +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+3 more
GConflicting classifications of pathogenicity
OCA2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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