NBK1216 AND genereviews[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21394	NM_004085.4(TIMM8A):c.503_505dup	TIMM8A	Duplication (3 prime UTR variant)	Deafness dystonia syndrome	GBenign
Select item 11321	NM_004085.4(TIMM8A):c.198C>G (p.Cys66Trp)	TIMM8A (C66W)	Single nucleotide variant (3 prime UTR variant +1 more)	Deafness dystonia syndrome	GLikely pathogenic
Select item 21393	NM_004085.4(TIMM8A):c.112C>T (p.Gln38Ter)	TIMM8A (Q38*)	Single nucleotide variant (nonsense)	Deafness dystonia syndrome	Gnot provided

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