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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM5
(S551N +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GUncertain significance
PRDM5
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+1 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(intron variant)
Brittle cornea syndrome 2
+3 more
GConflicting classifications of pathogenicity
PRDM5
(Q235H)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
PRDM5
(G36R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+2 more
GConflicting classifications of pathogenicity
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