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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESCO2
(K139fs)
Deletion
(frameshift variant)
Juberg-Hayward syndrome
+2 more
GPathogenic
ESCO2
(R552*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic/Likely pathogenic
ESCO2
(Q359P)
Single nucleotide variant
(missense variant)
Roberts-SC phocomelia syndrome
+4 more
GBenign/Likely benign
ESCO2
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
ESCO2
(R293fs)
Microsatellite
(frameshift variant)
not provided
+2 more
GPathogenic
ESCO2
(A80V)
Single nucleotide variant
(missense variant)
Juberg-Hayward syndrome
+3 more
GBenign
ESCO2
Single nucleotide variant
(splice acceptor variant)
Roberts-SC phocomelia syndrome
+1 more
GPathogenic
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