"PreventionGenetics, part of Exact Sciences"[submitter] AND "BLOC1S5-T - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2630117	NM_201280.3(BLOC1S5):c.326-2A>C	BLOC1S5, BLOC1S5-TXNDC5 +1 more	Single nucleotide variant (splice acceptor variant)	BLOC1S5-related disorder	GLikely pathogenic
Select item 3056960	NM_201280.3(BLOC1S5):c.195+8262A>G	BLOC1S5, BLOC1S5-TXNDC5 +1 more (M1V)	Single nucleotide variant (missense variant +2 more)	BLOC1S5-related disorder	GLikely benign