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Links from MedGen

Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129998225, RP9
(S2*)
Single nucleotide variant
(nonsense)
Retinitis pigmentosa 9
GLikely pathogenic
RP9
Single nucleotide variant
(intron variant)
Retinitis pigmentosa 9
GBenign
LOC129998225, RP9
(G11E)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
+3 more
GUncertain significance
RP9
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
RP9
Deletion
(frameshift variant +1 more)
Retinitis Pigmentosa, Dominant
+3 more
GBenign/Likely benign
RP9
(K210R)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
RP9
(D170G)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa
GUncertain significance
RP9
(H137L)
Single nucleotide variant
(missense variant)
Retinitis pigmentosa 9
GUncertain significance
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