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Links from MedGen

Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HMX1
(M1I)
Single nucleotide variant
(missense variant +1 more)
Oculoauricular syndrome
GUncertain significance
HMX1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
HMX1
(Q217P)
Single nucleotide variant
(missense variant +1 more)
Oculoauricular syndrome
GPathogenic
HMX1
(L72fs)
Deletion
(frameshift variant)
Oculoauricular syndrome
GPathogenic
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