"Athena Diagnostics"[submitter] AND "TECTA"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 45339	NM_005422.4(TECTA):c.56A>G (p.Gln19Arg)	TBCEL-TECTA, TECTA (Q19R +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 179381	NM_005422.4(TECTA):c.327C>T (p.Gly109=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 546169	NM_005422.4(TECTA):c.790+6G>A	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 289305	NM_005422.4(TECTA):c.972G>C (p.Val324=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 303002	NM_005422.4(TECTA):c.1794G>C (p.Pro598=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 21 +2 more	GConflicting classifications of pathogenicity
Select item 165353	NM_005422.4(TECTA):c.1812C>T (p.Ser604=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 178538	NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp)	TBCEL-TECTA, TECTA (R1033W +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 45331	NM_005422.4(TECTA):c.4422C>T (p.Asn1474=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 45334	NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr)	TBCEL-TECTA, TECTA (S1584T +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 45335	NM_005422.4(TECTA):c.5012C>T (p.Ser1671Leu)	TBCEL-TECTA, TECTA (S1671L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GConflicting classifications of pathogenicity
Select item 805645	NM_005422.4(TECTA):c.5929C>T (p.Leu1977Phe)	TBCEL-TECTA, TECTA (L1977F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 45342	NM_005422.4(TECTA):c.6250+4T>C	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 303046	NM_005422.4(TECTA):c.6428C>T (p.Ser2143Leu)	TBCEL-TECTA, TECTA (S2143L +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21 +3 more	GConflicting classifications of pathogenicity