U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 41

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PRDM5
(R315* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic
PRDM5
(S15F)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 2
GUncertain significance
PRDM5
(Q220*)
Single nucleotide variant
(nonsense +1 more)
Brittle cornea syndrome 2
GLikely pathogenic
PRDM5
(C300R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
PRDM5
(R230S +1 more)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 2
+1 more
GUncertain significance
PRDM5
(R257W +1 more)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 2
+1 more
GUncertain significance
PRDM5
(R474fs +2 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PRDM5
Single nucleotide variant
(splice donor variant)
Brittle cornea syndrome 2
GLikely pathogenic
PRDM5
(H529fs +3 more)
Deletion
(frameshift variant +1 more)
Brittle cornea syndrome 2
GLikely pathogenic
PRDM5
(C519* +3 more)
Single nucleotide variant
(nonsense +2 more)
Brittle cornea syndrome 2
GLikely pathogenic
PRDM5
(S247L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PRDM5
(P372R +2 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
PRDM5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PRDM5
(R83C)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 2
+1 more
GConflicting classifications of pathogenicity
PRDM5
(H554fs +3 more)
Deletion
(frameshift variant +1 more)
Brittle cornea syndrome 2
GLikely pathogenic
PRDM5
(V6G)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 2
GLikely pathogenic
PRDM5
(D438N +2 more)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 2
GUncertain significance
PRDM5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(intron variant)
Brittle cornea syndrome 2
GUncertain significance
PRDM5
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PRDM5
(K280R +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
PRDM5
(L350P)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
PRDM5
(R83H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
PRDM5
(K224*)
Single nucleotide variant
(nonsense +1 more)
PRDM5-related disorder
+2 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(intron variant)
not provided
+2 more
GLikely benign
PRDM5
Single nucleotide variant
(intron variant)
Brittle cornea syndrome 2
GUncertain significance
PRDM5
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PRDM5
Single nucleotide variant
(intron variant)
Brittle cornea syndrome 2
GUncertain significance
PRDM5
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PRDM5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(intron variant)
Brittle cornea syndrome 2
+3 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(intron variant)
Brittle cornea syndrome 2
+1 more
GConflicting classifications of pathogenicity
PRDM5
(G36R)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
+2 more
GConflicting classifications of pathogenicity
PRDM5
Single nucleotide variant
(splice donor variant)
Brittle cornea syndrome 2
GPathogenic
PRDM5
(C294fs +1 more)
Deletion
(frameshift variant)
Brittle cornea syndrome 2
+2 more
GPathogenic
PRDM5
(Y107C)
Single nucleotide variant
(missense variant)
Brittle cornea syndrome 2
GPathogenic
PRDM5
Single nucleotide variant
(splice donor variant)
Brittle cornea syndrome 2
GPathogenic
PRDM5
(R590* +3 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
PRDM5
Deletion
Brittle cornea syndrome 2
GPathogenic
Format
Items per page
Sort by
Choose Destination