"Genome-Nilou Lab"[submitter] AND "TMPRSS3"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 46089	NM_001256317.3(TMPRSS3):c.*2G>A	TMPRSS3	Single nucleotide variant (3 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GBenign
Select item 46129	NM_001256317.3(TMPRSS3):c.757A>G (p.Ile253Val)	TMPRSS3 (I253V +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GBenign
Select item 1164000	NM_001256317.3(TMPRSS3):c.595G>A (p.Val199Met)	TMPRSS3 (V199M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GConflicting classifications of pathogenicity
Select item 46122	NM_001256317.3(TMPRSS3):c.453G>A (p.Val151=)	TMPRSS3	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GBenign
Select item 46121	NM_001256317.3(TMPRSS3):c.447-13A>G	TMPRSS3	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GBenign

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