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Links from MedGen

Items: 9

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRPF6
(D918N)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 60
GUncertain significance
PRPF6
(Q192H)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 60
GUncertain significance
PRPF6
(E484A)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 60
GUncertain significance
PRPF6
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 60
GUncertain significance
LOC126863090, PRPF6
(A528T)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 60
GUncertain significance
PRPF6
(I919V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRPF6
(H865Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRPF6
Single nucleotide variant
(synonymous variant)
Retinitis pigmentosa
+2 more
GBenign
PRPF6
(R729W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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