C1832828[trait identifier] AND "ClinGen Hearing Loss Variant Curation - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 897955	NM_194248.3(OTOF):c.5405C>T (p.Ala1802Val)	OTOF (A1035V +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 48256	NM_194248.3(OTOF):c.5193-1G>A	OTOF	Single nucleotide variant (splice acceptor variant)	Nonsyndromic genetic hearing loss	GLikely pathogenic FDA Recognized database
Select item 48253	NM_194248.3(OTOF):c.5098G>C (p.Glu1700Gln)	LOC112840921, OTOF (E1700Q +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 2429109	NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)	OTOF (R1583H +2 more)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic FDA Recognized database
Select item 48235	NM_194248.3(OTOF):c.4463A>T (p.Asp1488Val)	OTOF (D1488V +2 more)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GUncertain significance FDA Recognized database
Select item 6137	NM_194248.3(OTOF):c.2485C>T (p.Gln829Ter)	OTOF (Q829* +2 more)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 1703051	NM_194248.3(OTOF):c.2215-1G>C	OTOF (Q48H)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive nonsyndromic hearing loss 9	GLikely pathogenic FDA Recognized database
Select item 21831	NM_194248.3(OTOF):c.2122C>T (p.Arg708Ter)	OTOF (R708*)	Single nucleotide variant (nonsense)	Nonsyndromic genetic hearing loss	GPathogenic FDA Recognized database
Select item 21826	NM_194248.3(OTOF):c.1723G>A (p.Val575Met)	OTOF (V575M)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GBenign FDA Recognized database