"Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21839	NM_194248.3(OTOF):c.2736G>C (p.Leu912=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 21833	NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys)	OTOF (R773C +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 21830	NM_194248.3(OTOF):c.2025G>A (p.Glu675=)	OTOF	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 48273	NM_194248.3(OTOF):c.710+10C>T	OTOF	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 9 +2 more	GConflicting classifications of pathogenicity
Select item 21836	NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)	OTOF (R82C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign

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