C5191055[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1028542	NM_080916.3(DGUOK):c.13C>T (p.Arg5Cys)	DGUOK, LOC129934096 (R5C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 214286	NM_080916.3(DGUOK):c.591G>A (p.Gln197=)	DGUOK	Single nucleotide variant (synonymous variant +2 more)	DGUOK-related disorder +4 more	GPathogenic