ClinVar for MedGen (Select 867432) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 990899	NM_022124.6(CDH23):c.158C>A (p.Thr53Asn)	CDH23, CDH23-AS1 (T53N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 431458	NM_004086.3(COCH):c.292C>T (p.Arg98Ter)	LOC100506071, COCH (R98* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 14276	NM_001354604.2(MITF):c.961C>T (p.Arg321Ter)	MITF (R214* +9 more)	Single nucleotide variant (nonsense)	Waardenburg syndrome type 2A +5 more	GPathogenic

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