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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM5
Single nucleotide variant
(synonymous variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PRDM5
(R533C +3 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+1 more
GUncertain significance
PRDM5
Single nucleotide variant
(synonymous variant +2 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
PRDM5
(Y545H +3 more)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome
+3 more
GConflicting classifications of pathogenicity
PRDM5
(V485I)
Single nucleotide variant
(synonymous variant +2 more)
not provided
+2 more
GBenign/Likely benign
PRDM5
(R506S +2 more)
Single nucleotide variant
(missense variant +1 more)
Ehlers-Danlos syndrome
GUncertain significance
PRDM5
(H404Q +2 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
GUncertain significance
PRDM5
Single nucleotide variant
(intron variant)
Brittle cornea syndrome 2
+3 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
PRDM5
(I425V +2 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign
PRDM5
(R383W +2 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
GUncertain significance
PRDM5
(E341K +2 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+2 more
GConflicting classifications of pathogenicity
PRDM5
(S371R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
PRDM5
(H339Y +2 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
GUncertain significance
PRDM5
(S356T +2 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+4 more
GBenign/Likely benign
PRDM5
(Y317C +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
PRDM5
(L353*)
Single nucleotide variant
(nonsense +1 more)
Ehlers-Danlos syndrome
+1 more
GConflicting classifications of pathogenicity
PRDM5
(C294fs +1 more)
Deletion
(frameshift variant)
Brittle cornea syndrome 2
+2 more
GPathogenic
PRDM5
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome
+2 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(synonymous variant)
Ehlers-Danlos syndrome
+4 more
GBenign/Likely benign
PRDM5
(K280R +1 more)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 2
+3 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(synonymous variant +1 more)
Ehlers-Danlos syndrome
+4 more
GBenign/Likely benign
PRDM5
(L182F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
PRDM5
(K164I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign
PRDM5
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRDM5
(D125G)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
GUncertain significance
PRDM5
(R61H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRDM5
(R43T)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+2 more
GConflicting classifications of pathogenicity
PRDM5
(K42T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PRDM5
(G36R)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRDM5
Deletion
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
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