"Baylor Genetics"[submitter] AND "HK1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029035	NM_001358263.1(HK1):c.75+20336T>A	HK1	Single nucleotide variant (intron variant +1 more)	Hemolytic anemia due to hexokinase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 372693	NM_000188.3(HK1):c.1370C>T (p.Thr457Met)	HK1 (T445M +6 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1030654	NM_000188.3(HK1):c.1871dup (p.Ala625fs)	HK1 (A660fs +6 more)	Duplication (frameshift variant)	Charcot-Marie-Tooth disease type 4G +1 more	GUncertain significance
Select item 1030655	NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)	HK1 (R721K +6 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to hexokinase deficiency +1 more	GUncertain significance
Select item 1435898	NM_000188.3(HK1):c.2381G>A (p.Arg794Gln)	HK1 (R782Q +6 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1032246	NM_000188.3(HK1):c.2519C>T (p.Ala840Val)	HK1 (A844V +6 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to hexokinase deficiency +1 more	GUncertain significance
Select item 1030656	NM_000188.3(HK1):c.2692G>A (p.Gly898Ser)	HK1 (G866S +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with visual defects and brain anomalies +1 more	GUncertain significance

ClinVar