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Links from MedGen

Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CFAP410
(E130del +1 more)
Microsatellite
(inframe deletion)
Retinal dystrophy with or without macular staphyloma
GLikely pathogenic
CFAP410
(N56K +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy with or without macular staphyloma
GUncertain significance
CFAP410, LOC130066823
(M7del)
Deletion
(inframe deletion)
Retinal dystrophy with or without macular staphyloma
GUncertain significance
CFAP410
Single nucleotide variant
(intron variant)
Retinal dystrophy with or without macular staphyloma
GLikely pathogenic
CFAP410
(T141fs +1 more)
Duplication
(frameshift variant)
Retinal dystrophy with or without macular staphyloma
GLikely pathogenic
CFAP410, LOC130066823
(C25R)
Single nucleotide variant
(missense variant)
Retinal dystrophy with or without macular staphyloma
+1 more
GConflicting classifications of pathogenicity
CFAP410
Single nucleotide variant
(intron variant)
Retinal dystrophy with or without macular staphyloma
+1 more
GConflicting classifications of pathogenicity
CFAP410
Duplication
(inframe_insertion)
Retinal dystrophy with or without macular staphyloma
GUncertain significance
CFAP410
Single nucleotide variant
(splice donor variant)
Retinal dystrophy with or without macular staphyloma
+1 more
GPathogenic
CFAP410
(E107fs +1 more)
Microsatellite
(frameshift variant)
Retinal dystrophy with or without macular staphyloma
+1 more
GPathogenic/Likely pathogenic
CFAP410
(N271fs)
Deletion
(frameshift variant +1 more)
Retinal dystrophy with or without macular staphyloma
GUncertain significance
CFAP410
(T86M +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy with or without macular staphyloma
+2 more
GUncertain significance
CFAP410
(E96K +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy with or without macular staphyloma
+2 more
GPathogenic/Likely pathogenic
CFAP410
(Q119* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
CFAP410
(Y107C +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy with or without macular staphyloma
GPathogenic
CFAP410
(P116L +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
CFAP410
(Y107H +1 more)
Single nucleotide variant
(missense variant)
Retinal dystrophy with or without macular staphyloma
+1 more
GPathogenic
CFAP410
(E146fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
CFAP410
(R73P +1 more)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+4 more
GPathogenic/Likely pathogenic
CFAP410
(C61Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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