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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KRTCAP3, IFT172
(C1727R +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
+3 more
GPathogenic
KRTCAP3, IFT172
(R1642fs +1 more)
Microsatellite
(frameshift variant +1 more)
Retinitis pigmentosa 71
+2 more
GPathogenic
IFT172, KRTCAP3
(D1605E +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 71
GPathogenic
IFT172, KRTCAP3
(H1567Q +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Retinitis pigmentosa 71
+1 more
GPathogenic
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