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Links from MedGen

Items: 1 to 100 of 123

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TYR
(W80C)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
(S349fs)
Insertion
(frameshift variant)
Tyrosinase-negative oculocutaneous albinism
+2 more
GPathogenic/Likely pathogenic
TYR
(R87G)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
Deletion
(nonsense)
Tyrosinase-negative oculocutaneous albinism
GPathogenic
TYR
(M370K)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 1B
+1 more
GLikely pathogenic
TYR
(L498fs)
Deletion
(frameshift variant)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
Single nucleotide variant
(intron variant)
Tyrosinase-negative oculocutaneous albinism
+3 more
GLikely benign
TYR
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
TYR
(R298W)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TYR
(E130V)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+3 more
GUncertain significance
TYR
(G53R)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
TYR
(L401P)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GUncertain significance
TYR
(K503N)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+3 more
GUncertain significance
TYR
(F347L)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GLikely pathogenic
TYR
(S192Y +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GLikely pathogenic
TYR
(M252R)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
TYR
(S287fs)
Duplication
(frameshift variant)
Tyrosinase-negative oculocutaneous albinism
GPathogenic
TYR
(M332I)
Single nucleotide variant
(missense variant)
Abnormality of the skin
+3 more
GPathogenic/Likely pathogenic
TYR
Single nucleotide variant
(splice donor variant)
Tyrosinase-negative oculocutaneous albinism
+2 more
GPathogenic/Likely pathogenic
TYR
(S44R)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GPathogenic
TYR
(H367Q)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GLikely pathogenic
TYR
Single nucleotide variant
(splice acceptor variant)
Tyrosinase-negative oculocutaneous albinism
+3 more
GPathogenic
TYR
(K131del)
Deletion
(inframe_deletion)
Oculocutaneous albinism type 1B
+2 more
GConflicting classifications of pathogenicity
TYR
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TYR
(G41R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GLikely pathogenic
TYR
(A486fs)
Deletion
(frameshift variant)
Tyrosinase-negative oculocutaneous albinism
GPathogenic
TYR
Deletion
Tyrosinase-negative oculocutaneous albinism
GPathogenic
TYR
(W400R)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
(Y425*)
Single nucleotide variant
(nonsense)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
(V177L)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
(G53C)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TYR
(M370I)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GPathogenic
TYR
(W238*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TYR
(G346E)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+5 more
GPathogenic/Likely pathogenic
TYR
(C55S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TYR
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
TYR
Single nucleotide variant
(synonymous variant)
Tyrosinase-negative oculocutaneous albinism
+2 more
GConflicting classifications of pathogenicity
TYR
(E130fs)
Indel
(frameshift variant)
Tyrosinase-negative oculocutaneous albinism
GPathogenic
TYR
(E423fs)
Deletion
(frameshift variant)
Tyrosinase-negative oculocutaneous albinism
GPathogenic
TYR
(Y327C)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+2 more
GConflicting classifications of pathogenicity
TYR
(Y451C)
Single nucleotide variant
(missense variant)
not provided
+10 more
GPathogenic/Likely pathogenic
TYR
(I222T)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+3 more
GConflicting classifications of pathogenicity
TYR
Single nucleotide variant
(synonymous variant)
Tyrosinase-negative oculocutaneous albinism
+2 more
GUncertain significance
TYR
(K465*)
Duplication
(nonsense)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+3 more
GPathogenic/Likely pathogenic
TYR
(E219K)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+2 more
GPathogenic
TYR
(W39*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
TYR
(R422W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TYR
(G346V)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+2 more
GPathogenic
TYR
(R212K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TYR
(I151S)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
(G346*)
Single nucleotide variant
(nonsense)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+3 more
GPathogenic/Likely pathogenic
TYR
(E294K)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+2 more
GPathogenic/Likely pathogenic
TYR
(Y251*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
TYR
(E34A)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
(D305E)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+6 more
GConflicting classifications of pathogenicity
TYR
(Q326*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
TYR
(S26fs)
Duplication
(frameshift variant)
not provided
+2 more
GPathogenic
TYR
Single nucleotide variant
(synonymous variant)
TYR-related disorder
+3 more
GConflicting classifications of pathogenicity
TYR
(I194fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TYR
(E328K)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
TYR
(E221K)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
GPathogenic/Likely pathogenic
TYR
(Q220*)
Single nucleotide variant
(nonsense)
Tyrosinase-negative oculocutaneous albinism
+2 more
GPathogenic/Likely pathogenic
TYR
(Y149C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TYR
(P412A)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GConflicting classifications of pathogenicity
TYR
(A355V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TYR
(D356V)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TYR
(C247R)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GLikely pathogenic
TYR
(S184*)
Single nucleotide variant
(nonsense)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
GPathogenic
TYR
(C55G)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
Gnot provided
TYR
(R299S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
TYR
(T292M)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism type 1B
+3 more
GUncertain significance
TYR
(R278*)
Single nucleotide variant
(nonsense)
Oculocutaneous albinism
+6 more
GPathogenic
TYR
Single nucleotide variant
(intron variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TYR
(G253R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TYR
(R217Q)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+3 more
GPathogenic/Likely pathogenic
TYR
(P205T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
TYR
(G191fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
TYR
(R116*)
Single nucleotide variant
(nonsense)
Tyrosinase-negative oculocutaneous albinism
+4 more
GPathogenic
TYR
(T113fs)
Microsatellite
(frameshift variant)
not provided
+1 more
GPathogenic
TYR
(R77W)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+2 more
GPathogenic
TYR
Single nucleotide variant
(intron variant)
Tyrosinase-negative oculocutaneous albinism
+6 more
GConflicting classifications of pathogenicity
TYR
(R402*)
Single nucleotide variant
(nonsense)
Abnormality of the skin
+3 more
GPathogenic
TYR
(W400L)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
TYR
(N371Y)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GPathogenic/Likely pathogenic
TYR
(H367R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TYR
(A355P)
Single nucleotide variant
(missense variant)
TYR-related disorder
+3 more
GConflicting classifications of pathogenicity
TYR
Single nucleotide variant
(intron variant)
not provided
+10 more
GPathogenic/Likely pathogenic
TYR
Single nucleotide variant
(splice acceptor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TYR
(C91Y)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+1 more
GPathogenic/Likely pathogenic
TYR
(M1V)
Single nucleotide variant
(missense variant +1 more)
Oculocutaneous albinism type 1B
+18 more
GPathogenic/Likely pathogenic
TYR
(L216M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TYR
(W236*)
Single nucleotide variant
(nonsense)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
(R501fs)
Duplication
(frameshift variant)
Tyrosinase-negative oculocutaneous albinism
GLikely pathogenic
TYR
(A490fs)
Duplication
(frameshift variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+3 more
GPathogenic/Likely pathogenic
TYR
(D448N)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+2 more
GPathogenic/Likely pathogenic
TYR
(G446S)
Single nucleotide variant
(missense variant)
not provided
+5 more
GPathogenic
TYR
(R403S)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+3 more
GPathogenic/Likely pathogenic
TYR
(H389fs)
Deletion
(frameshift variant)
not provided
GPathogenic
TYR
(N371T)
Single nucleotide variant
(missense variant)
Oculocutaneous albinism
+1 more
GPathogenic/Likely pathogenic
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