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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
KLHL7
(A153V +1 more)
Single nucleotide variant
(missense variant +1 more)
Retinal dystrophy
+2 more
GPathogenic
KLHL7
(N256S +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
KLHL7
(K277fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
KLHL7
Single nucleotide variant
(synonymous variant +1 more)
Retinitis pigmentosa
+2 more
GBenign/Likely benign
KLHL7
Single nucleotide variant
(synonymous variant +1 more)
not provided
GConflicting classifications of pathogenicity
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