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Items: 16

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TMPRSS3
(A426T +2 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+3 more
GPathogenic/Likely pathogenic
TMPRSS3
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 8
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
(G377S +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TMPRSS3
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 8
+2 more
GConflicting classifications of pathogenicity
TMPRSS3
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
TMPRSS3
(A306T +1 more)
Single nucleotide variant
(missense variant)
Hearing impairment
+3 more
GPathogenic/Likely pathogenic
TMPRSS3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
(Y239H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TMPRSS3
(Y213C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TMPRSS3
Duplication
(splice acceptor variant)
not provided
+3 more
GBenign/Likely benign
TMPRSS3
(A138T +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TMPRSS3
(R109Q)
Single nucleotide variant
(missense variant +1 more)
TMPRSS3-related disorder
+2 more
GConflicting classifications of pathogenicity
TMPRSS3
(R109W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
TMPRSS3
(R106C)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 8
+3 more
GPathogenic/Likely pathogenic
TMPRSS3
(A90T)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
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