"Genetic Testing Center for Deafness, Department of Otolaryngology Hea - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 627487	NM_001039141.3(TRIOBP):c.131C>G (p.Ser44Ter)	TRIOBP (S44*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 627488	NM_001039141.3(TRIOBP):c.826C>T (p.Pro276Ser)	TRIOBP (P276S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 28	GLikely pathogenic
Select item 627486	NM_001039141.3(TRIOBP):c.3524C>A (p.Ser1175Ter)	TRIOBP (S1175*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 627485	NM_001039141.3(TRIOBP):c.4291G>T (p.Glu1431Ter)	TRIOBP (E1431*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 28	GPathogenic
Select item 995941	GRCh37/hg19 22q13.1(chr22:38155164-38541997)	ANKRD54, C22orf23 +13 more	Copy number loss	Waardenburg syndrome type 2E	GPathogenic

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