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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AIPL1
(P376S +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
AIPL1
(P370S +6 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis Pigmentosa, Dominant
+4 more
GUncertain significance
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
AIPL1
(A364S +6 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
AIPL1
(A336T +6 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
AIPL1
(R324L +6 more)
Single nucleotide variant
(missense variant +1 more)
Leber congenital amaurosis 4
+2 more
GConflicting classifications of pathogenicity
AIPL1
(R302L +6 more)
Single nucleotide variant
(missense variant +1 more)
AIPL1-related condition
+4 more
GConflicting classifications of pathogenicity
AIPL1
(E294Q +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AIPL1
(Q288H +6 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AIPL1
(W278* +6 more)
Single nucleotide variant
(nonsense +1 more)
Retinal dystrophy
+5 more
GPathogenic
AIPL1
Single nucleotide variant
(synonymous variant)
AIPL1-related condition
+4 more
GConflicting classifications of pathogenicity
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AIPL1
(Y134F +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
AIPL1
(N125D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AIPL1
(T114I +4 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GBenign/Likely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
AIPL1
(R102Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis Pigmentosa, Recessive
+3 more
GUncertain significance
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GBenign/Likely benign
AIPL1
(V96I +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
AIPL1
Single nucleotide variant
(intron variant)
Retinitis Pigmentosa, Recessive
+4 more
GBenign/Likely benign
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
Retinitis Pigmentosa, Recessive
+4 more
GConflicting classifications of pathogenicity
AIPL1
(H82Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa
+2 more
GConflicting classifications of pathogenicity
AIPL1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
AIPL1
(I49T +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
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