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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL7
(F352fs +1 more)
Microsatellite
(frameshift variant +1 more)
Retinitis pigmentosa 42
GPathogenic
KLHL7
(N145Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 42
GLikely pathogenic
KLHL7
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
KLHL7
(N145D +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+2 more
GConflicting classifications of pathogenicity
KLHL7
(A153T +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinitis pigmentosa 42
GPathogenic
KLHL7
(A153V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
KLHL7
(S150N +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic/Likely pathogenic
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