ClinVar for PubMed (Select 28566687) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2736994	NM_001256317.3(TMPRSS3):c.953-5A>G	TMPRSS3	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2138389	NM_001256317.3(TMPRSS3):c.999del (p.Asp334fs)	TMPRSS3 (D334fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1909242	NM_001256317.3(TMPRSS3):c.1335_1339dup (p.Met447fs)	TMPRSS3 (M321fs +2 more)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1698615	NM_001256317.3(TMPRSS3):c.1303C>G (p.Arg435Gly)	TMPRSS3 (R309G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 666988	NM_001256317.3(TMPRSS3):c.1303C>T (p.Arg435Cys)	TMPRSS3 (R435C +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GConflicting classifications of pathogenicity
Select item 517148	NM_001256317.3(TMPRSS3):c.579dup (p.Cys194fs)	TMPRSS3 (C194fs +1 more)	Duplication (frameshift variant)	Hearing impairment +3 more	GPathogenic/Likely pathogenic
Select item 197857	NM_001256317.3(TMPRSS3):c.326G>A (p.Arg109Gln)	TMPRSS3 (R109Q)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GConflicting classifications of pathogenicity
Select item 165492	NM_001256317.3(TMPRSS3):c.208del (p.His70fs)	TMPRSS3 (H70fs)	Deletion (frameshift variant +1 more)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
Select item 46119	NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	TMPRSS3 (A138E +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 46114	NM_001256317.3(TMPRSS3):c.325C>T (p.Arg109Trp)	TMPRSS3 (R109W)	Single nucleotide variant (missense variant +1 more)	Rare genetic deafness +2 more	GConflicting classifications of pathogenicity
Select item 46104	NM_001256317.3(TMPRSS3):c.1340T>C (p.Met447Thr)	TMPRSS3 (M448T +2 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GConflicting classifications of pathogenicity
Select item 46102	NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr)	TMPRSS3 (A426T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic