"Genome-Nilou Lab"[submitter] AND "HK1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285347	NM_001358263.1(HK1):c.75+23T>C	HK1	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 994062	NM_001358263.1(HK1):c.75+5174A>G	HK1 (H7R)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GBenign
Select item 439787	NM_000188.3(HK1):c.78C>G (p.Leu26=)	HK1	Single nucleotide variant (synonymous variant +1 more)	Charcot-Marie-Tooth disease type 4G +5 more	GBenign
Select item 255483	NM_000188.3(HK1):c.1443G>A (p.Lys481=)	HK1	Single nucleotide variant (synonymous variant)	Neurodevelopmental disorder with visual defects and brain anomalies +6 more	GBenign
Select item 1285348	NM_000188.3(HK1):c.1839+31G>A	HK1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4G +4 more	GBenign
Select item 1285349	NM_000188.3(HK1):c.2219+27T>C	HK1	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4G +4 more	GBenign

ClinVar