"Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine"[submitter - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 225880	NM_002108.4(HAL):c.1287+2T>C	HAL	Single nucleotide variant (splice donor variant)	Histidinemia +1 more	GUncertain significance; association
Select item 225881	NM_002108.3(HAL):c.964C>T	HAL (R322* +1 more)	Single nucleotide variant (nonsense)	Increased histidine	Gassociation
Select item 225882	NM_002108.3(HAL):c.308+1G>A	HAL	Single nucleotide variant (splice donor variant)	Increased histidine	Gassociation

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