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Links from MedGen

Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HPS4
Single nucleotide variant
(splice donor variant)
Hermansky-Pudlak syndrome 4
+2 more
GConflicting classifications of pathogenicity
TYR
(S192Y +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-negative oculocutaneous albinism
+1 more
GLikely pathogenic
DCT
Deletion
(nonsense)
Oculocutaneous albinism type 8
+1 more
GPathogenic/Likely pathogenic
DCT
(C61W)
Single nucleotide variant
(missense variant +1 more)
Oculocutaneous albinism type 8
+1 more
GPathogenic/Likely pathogenic
DCT
(C40S)
Single nucleotide variant
(missense variant +1 more)
Oculocutaneous albinism type 8
+1 more
GPathogenic/Likely pathogenic
NRL
(E156fs +1 more)
Duplication
(frameshift variant)
Abnormality of metabolism/homeostasis
+6 more
GUncertain significance
TYR
(Y451C)
Single nucleotide variant
(missense variant)
Fair hair
+10 more
GPathogenic/Likely pathogenic
OCA2
Deletion
(splice acceptor variant +1 more)
Albinism
GLikely pathogenic
GPR143
(N260S)
Single nucleotide variant
(missense variant)
Albinism
GLikely pathogenic
OCA2
(W554R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
TYR
(R422W)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
LURAP1L-AS1, TYRP1
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GPathogenic/Likely pathogenic
OCA2
(G780D +1 more)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+4 more
GPathogenic/Likely pathogenic
OCA2
(Y342C)
Single nucleotide variant
(missense variant)
Tyrosinase-positive oculocutaneous albinism
+4 more
GConflicting classifications of pathogenicity
TYR
(G109R)
Single nucleotide variant
(missense variant)
SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
+7 more
GPathogenic/Likely pathogenic
TYR
Single nucleotide variant
(intron variant)
Ocular albinism
+10 more
GPathogenic/Likely pathogenic
GPR143
(W292G)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
LURAP1L-AS1, TYRP1
(K368fs)
Deletion
(frameshift variant)
Skin/hair/eye pigmentation, variation in, 11
+2 more
GPathogenic/Likely pathogenic
HPS4
(R217* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+2 more
GPathogenic/Likely pathogenic
TYR
(M1V)
Single nucleotide variant
(missense variant +1 more)
Foveal hypoplasia
+18 more
GPathogenic/Likely pathogenic
TYR
(C89R)
Single nucleotide variant
(missense variant)
Albinism
+9 more
GPathogenic
TYR
(R402Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity; other
TYR
(P81L)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic
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