Related gene-specific medical variations for Gene (Select 3034) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3104161	NM_002108.4(HAL):c.1127A>G (p.His376Arg)	HAL, LOC128772385 (H168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606816	NM_002108.4(HAL):c.1131C>A (p.His377Gln)	HAL, LOC128772385 (H377Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2432363	NM_002108.4(HAL):c.578C>G (p.Ser193Ter)	HAL (S193*)	Single nucleotide variant (5 prime UTR variant +1 more)	Histidinemia	GUncertain significance

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