"Laboratory of Prof. Karen Avraham, Tel Aviv University"[submitter] AN - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Format

Sort by

Choose Destination

Search results

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250404	NM_005422.4(TECTA):c.2614G>T (p.Ala872Ser)	LOC126861365, TBCEL-TECTA +1 more (A1191S +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 21	GLikely pathogenic
Select item 236059	NM_005422.4(TECTA):c.2887G>A (p.Ala963Thr)	LOC126861365, TBCEL-TECTA +1 more (A963T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12	GPathogenic