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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RP1L1
(Q1987*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
RP1L1
Insertion
(inframe_insertion)
not provided
+1 more
GConflicting classifications of pathogenicity
RP1L1
(G1067A)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
RP1L1
(S300L)
Single nucleotide variant
(missense variant)
RP1L1-related condition
+2 more
GConflicting classifications of pathogenicity
RP1L1
(V218L)
Single nucleotide variant
(missense variant)
RP1L1-related condition
+2 more
GConflicting classifications of pathogenicity
RP1L1
(T150I)
Single nucleotide variant
(missense variant)
Occult macular dystrophy
+1 more
GUncertain significance
RP1L1
(P110L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RP1L1
(R45W)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 88
+3 more
GConflicting classifications of pathogenicity
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