"ClinGen Hearing Loss Variant Curation Expert Panel"[submitter] AND "T - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 229304	NM_005422.4(TECTA):c.487-7C>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 178532	NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)	TBCEL-TECTA, TECTA (Q234R +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
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 178638	NM_005422.4(TECTA):c.1436C>T (p.Pro479Leu)	TBCEL-TECTA, TECTA (P479L +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database
Select item 45317	NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)	TBCEL-TECTA, TECTA (N687K +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
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 178539	NM_005422.4(TECTA):c.3492C>T (p.Thr1164=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 287165	NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu)	TBCEL-TECTA, TECTA (G1335E +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 498538	NM_005422.4(TECTA):c.4085G>A (p.Trp1362Ter)	TBCEL-TECTA, TECTA (W1362* +1 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 165370	NM_005422.4(TECTA):c.5836T>C (p.Tyr1946His)	TBCEL-TECTA, TECTA (Y1946H +1 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database