C1832187[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1329694	NM_005422.4(TECTA):c.102del (p.Asn34fs)	TBCEL-TECTA, TECTA (N34fs +1 more)	Deletion (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 12 +2 more	GPathogenic/Likely pathogenic
Select item 1345003	NM_005422.4(TECTA):c.1391A>G (p.Tyr464Cys)	TBCEL-TECTA, TECTA (Y783C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 165351	NM_005422.4(TECTA):c.1699G>A (p.Ala567Thr)	TECTA, TBCEL-TECTA (A567T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +3 more	GUncertain significance
Select item 229296	NM_005422.4(TECTA):c.2657A>G (p.Asn886Ser)	LOC126861365, TBCEL-TECTA +1 more (N886S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 303014	NM_005422.4(TECTA):c.3216C>T (p.Cys1072=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 165360	NM_005422.4(TECTA):c.3406G>C (p.Asp1136His)	TBCEL-TECTA, TECTA (D1136H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +3 more	GConflicting classifications of pathogenicity
Select item 303029	NM_005422.4(TECTA):c.4965C>T (p.Gly1655=)	TBCEL-TECTA, TECTA	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 303033	NM_005422.4(TECTA):c.5496C>G (p.Ile1832Met)	TBCEL-TECTA, TECTA (I1832M +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 303036	NM_005422.4(TECTA):c.5586+12A>G	TBCEL-TECTA, TECTA	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 12 +1 more	GUncertain significance
Select item 444275	NM_005422.4(TECTA):c.6100G>A (p.Asp2034Asn)	TBCEL-TECTA, TECTA (D2034N +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance