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Links from MedGen

Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DDX54, DTX1
+17 more
Deletion
Abnormality of the upper limb
+1 more
GPathogenic
USH2A, USH2A-AS2
(G1668V)
Single nucleotide variant
(missense variant)
Abnormal upper limb bone morphology
+15 more
GUncertain significance
MYHAS, MYH8
(I1915V)
Single nucleotide variant
(missense variant)
Cognitive impairment
+12 more
GUncertain significance
USH2A
(E767fs +1 more)
Deletion
(frameshift variant +1 more)
Usher syndrome type 2A
GPathogenic
USH2A
(E767fs)
Deletion
(frameshift variant)
Rare genetic deafness
+23 more
GConflicting classifications of pathogenicity
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