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Links from MedGen

Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EBP
(R142C)
Single nucleotide variant
(missense variant)
MEND syndrome
GUncertain significance
EBP
(W186R)
Single nucleotide variant
(missense variant)
MEND syndrome
+1 more
GUncertain significance
EBP
(A95T)
Single nucleotide variant
(missense variant)
Chondrodysplasia punctata 2 X-linked dominant
+2 more
GUncertain significance
EBP
(R63Q)
Single nucleotide variant
(missense variant)
Chondrodysplasia punctata 2 X-linked dominant
+3 more
GConflicting classifications of pathogenicity
EBP
(T217M)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
EBP
(R147C)
Single nucleotide variant
(missense variant)
MEND syndrome
+1 more
GPathogenic/Likely pathogenic
EBP
(A5T)
Single nucleotide variant
(missense variant)
Chondrodysplasia punctata 2 X-linked dominant
+4 more
GBenign/Likely benign
EBP
(W47R)
Single nucleotide variant
(missense variant)
MEND syndrome
GPathogenic
EBP
(I75N)
Single nucleotide variant
(missense variant)
MEND syndrome
GPathogenic
EBP
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GBenign
EBP
(W47C)
Single nucleotide variant
(missense variant)
Chondrodysplasia punctata 2 X-linked dominant
GPathogenic
EBP
(L18P)
Single nucleotide variant
(missense variant)
MEND syndrome
GPathogenic
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