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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
XYLT2
(P114L)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive inherited pseudoxanthoma elasticum
GUncertain significance
ABCC6
Single nucleotide variant
(intron variant)
Autosomal recessive inherited pseudoxanthoma elasticum
GUncertain significance
ABCC6
(R807Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GPathogenic/Likely pathogenic
ABCC6
(R391G +1 more)
Single nucleotide variant
(missense variant +1 more)
ABCC6-related disorder
+4 more
GConflicting classifications of pathogenicity
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