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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LMX1A
(R199G)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 7
GPathogenic
LMX1A
(Q111fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 7
GLikely pathogenic