"Fulgent Genetics, Fulgent Genetics"[submitter] AND "TMPRSS3"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 996724	NM_001256317.3(TMPRSS3):c.1216T>C (p.Cys406Arg)	TMPRSS3 (C280R +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +1 more	GPathogenic
Select item 229324	NM_001256317.3(TMPRSS3):c.1169C>T (p.Thr390Met)	TMPRSS3 (T391M +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +3 more	GUncertain significance
Select item 46094	NM_001256317.3(TMPRSS3):c.1042G>A (p.Asp348Asn)	TMPRSS3 (D348N +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GConflicting classifications of pathogenicity
Select item 46133	NM_001256317.3(TMPRSS3):c.952+17A>G	TMPRSS3	Single nucleotide variant (synonymous variant +1 more)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GBenign
Select item 1339581	NM_001256317.3(TMPRSS3):c.764C>T (p.Ala255Val)	TMPRSS3 (A128V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 444576	NM_001256317.3(TMPRSS3):c.496C>T (p.Arg166Trp)	TMPRSS3 (R166W +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GConflicting classifications of pathogenicity
Select item 46119	NM_001256317.3(TMPRSS3):c.413C>A (p.Ala138Glu)	TMPRSS3 (A138E +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss +4 more	GPathogenic/Likely pathogenic
Select item 432009	NM_001256317.3(TMPRSS3):c.346G>A (p.Val116Met)	TMPRSS3 (V116M)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 8 +1 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)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 440339	NM_001256317.3(TMPRSS3):c.280G>A (p.Gly94Arg)	TMPRSS3 (G94R)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 46107	NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr)	TMPRSS3 (A90T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 8 +2 more	GBenign/Likely benign
Select item 165492	NM_001256317.3(TMPRSS3):c.208del (p.His70fs)	TMPRSS3 (H70fs)	Deletion (frameshift variant +1 more)	Hearing impairment +5 more	GPathogenic/Likely pathogenic