ClinVar for Gene (Select 3098) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379967	NM_000188.3(HK1):c.2741A>C (p.Glu914Ala)	HK1 (E882A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379966	NM_000188.3(HK1):c.1532T>C (p.Met511Thr)	HK1 (M479T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3379965	NM_001358263.1(HK1):c.75+20312G>A	HK1 (G13D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3373201	NM_000188.3(HK1):c.2376-1G>A	HK1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3371502	NM_000188.3(HK1):c.2231T>A (p.Met744Lys)	HK1 (M712K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370705	NM_000188.3(HK1):c.430A>G (p.Lys144Glu)	HK1 (K116E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366737	NM_000188.3(HK1):c.2679dup (p.Glu894Ter)	HK1 (E862* +6 more)	Duplication (nonsense)	not specified	GUncertain significance
Select item 3366490	NM_000188.3(HK1):c.64-9C>T	HK1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3365441	NM_000188.3(HK1):c.2035+1G>A	HK1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3365097	NM_000188.3(HK1):c.230A>C (p.Lys77Thr)	HK1 (K112T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365088	NM_000188.3(HK1):c.1339A>T (p.Ser447Cys)	HK1 (S415C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365087	NM_000188.3(HK1):c.1372G>A (p.Ala458Thr)	HK1 (A426T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360891	NM_000188.3(HK1):c.533G>T (p.Ser178Ile)	HK1 (S150I +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3360629	NM_000188.3(HK1):c.2212A>G (p.Lys738Glu)	HK1 (K706E +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359004	NM_000188.3(HK1):c.2498T>C (p.Leu833Pro)	HK1 (L801P +6 more)	Single nucleotide variant (missense variant)	Hemolytic anemia due to hexokinase deficiency	GUncertain significance
Select item 3352899	NM_000188.3(HK1):c.1101C>T (p.Asp367=)	HK1	Single nucleotide variant (synonymous variant)	HK1-related disorder	GLikely benign
Select item 3350915	NM_000188.3(HK1):c.2029_2031del (p.Ile677del)	HK1 (I645del +6 more)	Deletion (inframe_deletion)	HK1-related disorder	GUncertain significance
Select item 3284396	NM_000188.3(HK1):c.553G>A (p.Val185Met)	HK1 (V173M +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3284395	NM_000188.3(HK1):c.1403G>A (p.Arg468Gln)	HK1 (R467Q +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253539	NM_000188.3(HK1):c.2240G>A (p.Gly747Asp)	HK1 (G715D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252398	NM_000188.3(HK1):c.1634T>C (p.Ile545Thr)	HK1 (I513T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251120	NM_000188.3(HK1):c.792T>G (p.Phe264Leu)	HK1 (F232L +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3239440	NM_000188.3(HK1):c.875+1G>A	HK1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 3234737	NM_000188.3(HK1):c.2099A>G (p.Gln700Arg)	HK1 (Q668R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234705	NM_000188.3(HK1):c.1237G>T (p.Asp413Tyr)	HK1 (D381Y +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3106096	NM_000188.3(HK1):c.2008C>A (p.Pro670Thr)	HK1 (P638T +6 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067797	NM_000188.3(HK1):c.847del (p.Arg283fs)	HK1 (R251fs +6 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3066138	NM_000188.3(HK1):c.761G>A (p.Arg254Lys)	HK1 (R222K +6 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with visual defects and brain anomalies	GUncertain significance
Select item 3044702	NM_001358263.1(HK1):c.-297G>A	HK1	Single nucleotide variant (5 prime UTR variant +1 more)	HK1-related disorder	GLikely benign
Select item 3041185	NM_000188.3(HK1):c.1070C>T (p.Thr357Ile)	HK1 (T325I +6 more)	Single nucleotide variant (missense variant)	HK1-related disorder	GUncertain significance
Select item 3034558	NM_001358263.1(HK1):c.75+5182G>C	HK1	Single nucleotide variant (splice donor variant +1 more)	HK1-related disorder	GUncertain significance
Select item 3030747	NM_000188.3(HK1):c.2562G>C (p.Leu854=)	HK1	Single nucleotide variant (synonymous variant)	HK1-related disorder	GLikely benign
Select item 3028188	NM_000188.3(HK1):c.2734C>T (p.Arg912Cys)	HK1 (R880C +6 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028187	NM_000188.3(HK1):c.2009C>A (p.Pro670His)	HK1 (P638H +6 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028185	NM_000188.3(HK1):c.1344C>T (p.Gly448=)	HK1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028184	NM_000188.3(HK1):c.1327C>T (p.Leu443Phe)	HK1 (L411F +6 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028183	NM_000188.3(HK1):c.1120G>A (p.Val374Ile)	HK1 (V342I +6 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028182	NM_000188.3(HK1):c.1013A>C (p.Asp338Ala)	HK1 (D306A +6 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3028181	NM_000188.3(HK1):c.409T>A (p.Phe137Ile)	HK1 (F109I +5 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027188	NM_001358263.1(HK1):c.57T>C (p.His19=)	HK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3027071	NM_000188.3(HK1):c.1608C>G (p.Thr536=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026601	NM_000188.3(HK1):c.699C>T (p.Gly233=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3023805	NM_000188.3(HK1):c.2154G>A (p.Leu718=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000285	NM_000188.3(HK1):c.1677C>T (p.Ile559=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998135	NM_000188.3(HK1):c.2706C>T (p.Ala902=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2996394	NM_000188.3(HK1):c.84C>T (p.Ala28=)	HK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994043	NM_000188.3(HK1):c.226+9G>A	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2990158	NM_000188.3(HK1):c.1935+4A>C	HK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2985132	NM_000188.3(HK1):c.496-8_496-6del	HK1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2985129	NM_000188.3(HK1):c.1524G>T (p.Val508=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2978621	NM_000188.3(HK1):c.2610-15T>G	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978262	NM_000188.3(HK1):c.592-5C>G	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2976285	NM_000188.3(HK1):c.1266-13C>G	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2975545	NM_000188.3(HK1):c.2230A>G (p.Met744Val)	HK1 (M712V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975454	NM_000188.3(HK1):c.1499G>A (p.Arg500Lys)	HK1 (R504K +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2969448	NM_000188.3(HK1):c.692-14C>T	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968771	NM_000188.3(HK1):c.876-14G>A	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2964468	NM_000188.3(HK1):c.298G>C (p.Glu100Gln)	HK1 (E135Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964447	NM_000188.3(HK1):c.876-19G>A	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962371	NM_000188.3(HK1):c.2335C>T (p.Arg779Trp)	HK1 (R783W +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921181	NM_000188.3(HK1):c.1690A>G (p.Ile564Val)	HK1 (I552V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2921120	NM_001358263.1(HK1):c.75+22_75+23dup	HK1	Duplication (intron variant)	not provided	GLikely benign
Select item 2920999	NM_000188.3(HK1):c.589G>C (p.Gly197Arg)	HK1 (G197R +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2920798	NM_001358263.1(HK1):c.75+5173_75+5174inv	HK1 (H7C)	Inversion (missense variant +1 more)	not provided	GLikely benign
Select item 2919709	NM_000188.3(HK1):c.591+10C>T	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894616	NM_000188.3(HK1):c.1426C>A (p.His476Asn)	HK1 (H448N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2885630	NM_000188.3(HK1):c.1032-3C>T	HK1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2877070	NM_000188.3(HK1):c.1839+17A>G	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2876605	NM_000188.3(HK1):c.2376-11G>A	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859541	NM_000188.3(HK1):c.2045G>A (p.Ser682Asn)	HK1 (S650N +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857632	NM_000188.3(HK1):c.206G>A (p.Arg69Lys)	HK1 (R104K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853820	NM_000188.3(HK1):c.169C>G (p.Pro57Ala)	HK1 (P56A +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852733	NM_000188.3(HK1):c.2615C>G (p.Ser872Cys)	HK1 (S844C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2851485	NM_000188.3(HK1):c.1570+18G>A	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834662	NM_000188.3(HK1):c.1573A>G (p.Asn525Asp)	HK1 (N497D +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816113	NM_000188.3(HK1):c.280C>A (p.Arg94=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2816046	NM_000188.3(HK1):c.691G>T (p.Gly231Cys)	HK1 (G231C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2812808	NM_000188.3(HK1):c.324G>T (p.Glu108Asp)	HK1 (E80D +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2807599	NM_000188.3(HK1):c.1840-8T>C	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2807095	NM_000188.3(HK1):c.2400C>G (p.Val800=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802700	NM_000188.3(HK1):c.63+19C>A	HK1, LOC130003980	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2801609	NM_000188.3(HK1):c.1266-7C>T	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796651	NM_000188.3(HK1):c.1172G>C (p.Gly391Ala)	HK1 (G391A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796014	NM_000188.3(HK1):c.2222A>G (p.Tyr741Cys)	HK1 (Y745C +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2795007	NM_000188.3(HK1):c.1132G>A (p.Val378Ile)	HK1 (V382I +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793096	NM_000188.3(HK1):c.679G>A (p.Gly227Ser)	HK1 (G199S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792777	NM_000188.3(HK1):c.1935+11A>G	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2792397	NM_000188.3(HK1):c.1129A>G (p.Ile377Val)	HK1 (I349V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791888	NM_000188.3(HK1):c.1837G>A (p.Ala613Thr)	HK1 (A581T +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790281	NM_000188.3(HK1):c.496-6T>C	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2789992	NM_000188.3(HK1):c.1508C>G (p.Thr503Arg)	HK1 (T502R +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2782006	NM_000188.3(HK1):c.2490C>G (p.Ala830=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2781101	NM_000188.3(HK1):c.1110A>G (p.Ser370=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2775963	NM_000188.3(HK1):c.876-5C>T	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2766984	NM_000188.3(HK1):c.640A>G (p.Met214Val)	HK1 (M182V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765478	NM_000188.3(HK1):c.1261C>T (p.Pro421Ser)	HK1 (P393S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765022	NM_000188.3(HK1):c.2376-5del	HK1	Deletion (intron variant)	not provided	GBenign
Select item 2763930	NM_000188.3(HK1):c.536G>T (p.Gly179Val)	HK1 (G151V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2761084	NM_000188.3(HK1):c.2673C>G (p.Leu891=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2756784	NM_000188.3(HK1):c.2484G>A (p.Arg828=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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