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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC17A9
(S332P +1 more)
Single nucleotide variant
(missense variant)
Porokeratosis 8, disseminated superficial actinic type
GUncertain significance
SLC17A9
(R311W +1 more)
Single nucleotide variant
(missense variant)
Porokeratosis 8, disseminated superficial actinic type
GUncertain significance
SLC17A9
(R9C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SLC17A9
(R311Q +1 more)
Single nucleotide variant
(missense variant)
Porokeratosis 8, disseminated superficial actinic type
GPathogenic
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