"Revvity Omics, Revvity"[submitter] AND "HK1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 857390	NM_000188.3(HK1):c.97G>A (p.Asp33Asn)	HK1 (D21N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689214	NM_000188.3(HK1):c.117_119del (p.Ile39del)	HK1 (I11del +5 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2432481	NM_000188.3(HK1):c.384T>A (p.Asp128Glu)	HK1 (D100E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432479	NM_000188.3(HK1):c.875+5G>A	HK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2432483	NM_000188.3(HK1):c.892A>T (p.Ser298Cys)	HK1 (S266C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038327	NM_000188.3(HK1):c.1015G>A (p.Val339Met)	HK1 (V311M +6 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1052242	NM_000188.3(HK1):c.1057A>C (p.Lys353Gln)	HK1 (K321Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1050624	NM_000188.3(HK1):c.1174G>A (p.Ala392Thr)	HK1 (A360T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689213	NM_000188.3(HK1):c.1231G>A (p.Gly411Ser)	HK1 (G379S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1015613	NM_000188.3(HK1):c.1256C>T (p.Thr419Met)	HK1 (T387M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1163915	NM_000188.3(HK1):c.1274G>A (p.Arg425Gln)	HK1 (R393Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689216	NM_000188.3(HK1):c.1289C>T (p.Thr430Ile)	HK1 (T398I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1057745	NM_000188.3(HK1):c.1297C>T (p.Arg433Cys)	HK1 (R401C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689215	NM_000188.3(HK1):c.1384C>T (p.Arg462Cys)	HK1 (R430C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432484	NM_000188.3(HK1):c.1400A>T (p.His467Leu)	HK1 (H435L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064245	NM_000188.3(HK1):c.1474C>T (p.Arg492Trp)	HK1 (R460W +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 967412	NM_000188.3(HK1):c.1522G>A (p.Val508Met)	HK1 (V480M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432482	NM_000188.3(HK1):c.1592T>A (p.Leu531Gln)	HK1 (L499Q +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432480	NM_000188.3(HK1):c.1634T>A (p.Ile545Asn)	HK1 (I513N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432475	NM_000188.3(HK1):c.1829G>A (p.Ser610Asn)	HK1 (S578N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2432478	NM_000188.3(HK1):c.1894G>C (p.Asp632His)	HK1 (D600H +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689212	NM_000188.3(HK1):c.2041G>A (p.Gly681Ser)	HK1 (G649S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1372224	NM_000188.3(HK1):c.2146G>A (p.Gly716Arg)	HK1 (G716R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432474	NM_000188.3(HK1):c.2198C>T (p.Ser733Phe)	HK1 (S701F +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1502120	NM_000188.3(HK1):c.2278G>A (p.Asp760Asn)	HK1 (D748N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1335039	NM_000188.3(HK1):c.2506G>A (p.Ala836Thr)	HK1 (A804T +6 more)	Single nucleotide variant (missense variant)	not provided	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 424845	NM_000188.3(HK1):c.2539G>A (p.Glu847Lys)	HK1 (E847K +6 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 79 +3 more	GPathogenic/Likely pathogenic
Select item 962834	NM_000188.3(HK1):c.2633C>T (p.Thr878Met)	HK1 (T850M +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2432476	NM_000188.3(HK1):c.2714C>A (p.Thr905Lys)	HK1 (T873K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 31