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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ESPN
(K476Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ESPN
(K818del +2 more)
Microsatellite
(inframe_deletion)
Autosomal recessive nonsyndromic hearing loss 36
GLikely pathogenic
ANKRD65, ARHGEF16
+97 more
Copy number loss
Chromosome 1p36 deletion syndrome
GPathogenic
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