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Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CP, HPS3
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
CP, HPS3
(I672V +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
CP, HPS3
(V679I +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
CP, HPS3
(E765fs +1 more)
Deletion
(frameshift variant)
Hermansky-Pudlak syndrome
GLikely pathogenic
CP
(L919P)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration with brain iron accumulation
+1 more
GPathogenic/Likely pathogenic
CP
(G895A)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
+2 more
GConflicting classifications of pathogenicity
CP
(R793H)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign/Likely benign
CP
(R720W)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
CP
(P689fs)
Deletion
(frameshift variant)
Neurodegeneration with brain iron accumulation
+1 more
GPathogenic/Likely pathogenic
CP
(C560F)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
+1 more
GConflicting classifications of pathogenicity
CP
(E544D)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GBenign
CP
(Q498R)
Single nucleotide variant
(missense variant +1 more)
Deficiency of ferroxidase
+1 more
GLikely benign
CP
(P477L)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
CP
(Y375H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CP
(A350D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CP
(R310C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CP
(V219E)
Single nucleotide variant
(missense variant +1 more)
Neurodegeneration with brain iron accumulation
+1 more
GConflicting classifications of pathogenicity
CP
(E208G)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
CP
(P196L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CP
(G195R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
CP
(D77H)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
CP
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
CP
(M1I)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CP
Deletion
Deficiency of ferroxidase
+1 more
GUncertain significance
CP, HPS3
Deletion
Neurodegeneration with brain iron accumulation
GLikely pathogenic
CP, HPS3
Deletion
Hermansky-Pudlak syndrome
GLikely pathogenic
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