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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
STRC
(R1451*)
Single nucleotide variant
(nonsense)
Deafness-infertility syndrome
+1 more
GPathogenic/Likely pathogenic
STRC
(R1073Q)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
STRC
(R92W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
STRC, CATSPER2
+1 more
Copy number loss
Autosomal recessive nonsyndromic hearing loss 16
GPathogenic
STRC, CKMT1B
+1 more
Copy number loss
Autosomal recessive nonsyndromic hearing loss 16
GPathogenic
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