"GeneDx"[submitter] AND "HAP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 1287515	NM_177977.3(HAP1):c.1847C>A (p.Ser616Ter)	HAP1 (S591* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GBenign
Select item 1242257	NM_177977.3(HAP1):c.1322C>T (p.Thr441Met)	HAP1 (T416M +4 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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