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Links from MedGen

Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO1H
(E989del)
Deletion
(inframe_deletion)
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
GUncertain significance
MYO1H
Single nucleotide variant
(splice acceptor variant)
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
GUncertain significance
MYO1H
(R745H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MYO1H
Single nucleotide variant
(splice donor variant)
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
GLikely pathogenic
MYO1H
Microsatellite
(inframe_deletion)
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
GLikely benign
MYO1H
Deletion
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
GLikely benign
MYO1H
(R842fs +1 more)
Deletion
(frameshift variant)
Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
GPathogenic
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