C1832187[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45314	NM_005422.4(TECTA):c.1111A>G (p.Arg371Gly)	TBCEL-TECTA, TECTA (R371G +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 45315	NM_005422.4(TECTA):c.1485A>G (p.Ala495=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 12 +3 more	GBenign
Select item 45319	NM_005422.4(TECTA):c.2256C>T (p.Ile752=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 45322	NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)	LOC126861365, TBCEL-TECTA +1 more (V932A +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 45323	NM_005422.4(TECTA):c.2805T>C (p.Tyr935=)	LOC126861365, TBCEL-TECTA +1 more	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 45336	NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn)	TBCEL-TECTA, TECTA (S1724N +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 1177853	NM_005422.4(TECTA):c.5272+26A>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 21 +2 more	GBenign
Select item 1274473	NM_005422.4(TECTA):c.5586+40C>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 21 +2 more	GBenign
Select item 45338	NM_005422.4(TECTA):c.5634C>T (p.Ser1878=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign