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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZFHX4
(S426N)
Single nucleotide variant
(missense variant)
Ptosis, hereditary congenital, 1
GBenign
ZFHX4
(Y2990* +1 more)
Single nucleotide variant
(nonsense)
Ptosis, hereditary congenital, 1
GUncertain significance
ZFHX4
(P3096S +1 more)
Single nucleotide variant
(missense variant)
Ptosis, hereditary congenital, 1
GUncertain significance
ZFHX4
(S715N)
Single nucleotide variant
(missense variant)
Ptosis, hereditary congenital, 1
GUncertain significance
ZFHX4
Single nucleotide variant
(synonymous variant)
Ptosis, hereditary congenital, 1
GBenign
ZFHX4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
ZFHX4
(E1776G)
Single nucleotide variant
(missense variant)
Ptosis, hereditary congenital, 1
+1 more
GBenign/Likely benign
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