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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MT-TN
Single nucleotide variant
Ptosis
+1 more
GLikely pathogenic
MT-TN
Single nucleotide variant
External ophthalmoplegia
GPathogenic
MT-CO1
Single nucleotide variant
External ophthalmoplegia
GLikely benign
MYF5
(Q8fs)
Deletion
(frameshift variant)
Ophthalmoplegia, external, with rib and vertebral anomalies
+3 more
GPathogenic
MYF5
(R95C)
Single nucleotide variant
(missense variant)
Ophthalmoplegia, external, with rib and vertebral anomalies
+3 more
GPathogenic
CHAT
(S576C +2 more)
Single nucleotide variant
(missense variant)
Gastroesophageal reflux
+11 more
GPathogenic
CHAT
(T236M +2 more)
Single nucleotide variant
(missense variant)
Aspiration pneumonia
+11 more
GPathogenic/Likely pathogenic
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