3098[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145481	GRCh38/hg38 10q11.21-22.2(chr10:42685306-73715908)x3	A1CF, ADAMTS14 +902 more	Copy number gain	See cases	GPathogenic
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 58726	GRCh38/hg38 10q21.1-22.2(chr10:58436466-74415216)x1	LOC129390190, LOC129390191 +610 more	Copy number loss	See cases	GPathogenic
Select item 147477	GRCh38/hg38 10q21.3-22.2(chr10:63402579-75296099)x1	HERC4, HK1 +514 more	Copy number loss	See cases	GPathogenic
Select item 146115	GRCh38/hg38 10q21.3-22.3(chr10:67196567-79422057)x3	LOC130004125, LOC130004126 +580 more	Copy number gain	See cases	GPathogenic
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 208363	NM_001358263.1(HK1):c.-290G>C	HK1	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease type 4G	Gnot provided
Select item 40213	NM_001358263.1(HK1):c.-270G>C	HK1	Single nucleotide variant (5 prime UTR variant +1 more)	Hemolytic anemia due to hexokinase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1107623	NM_001358263.1(HK1):c.-196+1241G>A	HK1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 1685345	NM_001358263.1(HK1):c.1A>T (p.Met1Leu)	HK1 (M1L)	Single nucleotide variant (missense variant +2 more)	Hemolytic anemia due to hexokinase deficiency	GLikely pathogenic
Select item 802580	NM_001358263.1(HK1):c.1A>G (p.Met1Val)	HK1 (M1V)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 4G	GLikely pathogenic
Select item 587450	NM_001358263.1(HK1):c.4G>A (p.Gly2Arg)	HK1 (G2R)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease type 4G	GUncertain significance
Select item 1172759	NM_001358263.1(HK1):c.19C>T (p.Arg7Ter)	HK1 (R7*)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease type 4G	GPathogenic/Likely pathogenic
Select item 2632066	NM_001358263.1(HK1):c.27G>A (p.Ser9=)	HK1	Single nucleotide variant (synonymous variant +1 more)	HK1-related disorder	GUncertain significance
Select item 811050	NM_001358263.1(HK1):c.28-3347T>A	HK1 (L19Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 811926	NM_001358263.1(HK1):c.28-3329G>A	HK1 (R25H)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 993784	NM_001358263.1(HK1):c.28-3306C>T	HK1 (P33S)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2428596	NM_001358263.1(HK1):c.28G>T (p.Ala10Ser)	HK1 (A10S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 994196	NM_001358263.1(HK1):c.53T>C (p.Leu18Pro)	HK1 (L18P +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GLikely benign
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 2921120	NM_001358263.1(HK1):c.75+22_75+23dup	HK1	Duplication (intron variant)	not provided	GLikely benign
Select item 811676	NM_001358263.1(HK1):c.75+23del	HK1	Deletion (intron variant)	not specified	GBenign
Select item 1284703	NM_001358263.1(HK1):c.75+16T>C	HK1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1285347	NM_001358263.1(HK1):c.75+23T>C	HK1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with visual defects and brain anomalies +4 more	GBenign
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 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 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 994066	NM_001358263.1(HK1):c.75+5185C>T	HK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1330405	NM_001358263.1(HK1):c.75+5186G>A	HK1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 994063	NM_001358263.1(HK1):c.75+5198G>A	HK1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 811462	NM_001358263.1(HK1):c.75+20082A>G	HK1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1694034	NM_001358263.1(HK1):c.75+20258T>C	HK1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 992937	NM_001358263.1(HK1):c.75+20308C>T	HK1 (R12*)	Single nucleotide variant (nonsense +1 more)	Hemolytic anemia due to hexokinase deficiency +1 more	GConflicting classifications of pathogenicity
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 1978520	NM_000188.3(HK1):c.12G>T (p.Ala4=)	HK1, LOC130003980	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1951130	NM_000188.3(HK1):c.24C>G (p.Ala8=)	HK1, LOC130003980	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1082005	NM_000188.3(HK1):c.36G>T (p.Thr12=)	HK1, LOC130003980	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1120885	NM_000188.3(HK1):c.40C>T (p.Leu14=)	HK1, LOC130003980	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 1003936	NM_000188.3(HK1):c.53A>G (p.Gln18Arg)	HK1, LOC130003980 (Q18R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1721349	NM_000188.3(HK1):c.55G>A (p.Val19Ile)	HK1, LOC130003980 (V19I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1083024	NM_000188.3(HK1):c.63+8C>T	HK1, LOC130003980	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1131649	NM_000188.3(HK1):c.63+9C>G	HK1, LOC130003980	Single nucleotide variant (intron 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 1663293	NM_000188.3(HK1):c.64-18C>T	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923759	NM_000188.3(HK1):c.64-13C>T	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747506	NM_000188.3(HK1):c.64-11del	HK1	Deletion (intron variant)	not provided	GLikely benign
Select item 1165239	NM_000188.3(HK1):c.64-6del	HK1	Deletion (intron variant)	not provided	GBenign
Select item 3366490	NM_000188.3(HK1):c.64-9C>T	HK1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2696788	NM_000188.3(HK1):c.65T>C (p.Ile22Thr)	HK1 (I26T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2640547	NM_000188.3(HK1):c.69C>T (p.Asp23=)	HK1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 439787	NM_000188.3(HK1):c.78C>G (p.Leu26=)	HK1	Single nucleotide variant (synonymous variant +1 more)	Hemolytic anemia due to hexokinase deficiency +5 more	GBenign
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 618163	NM_000188.3(HK1):c.86T>C (p.Met29Thr)	HK1 (M17T +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1943695	NM_000188.3(HK1):c.89G>A (p.Arg30Gln)	HK1 (R18Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1154086	NM_000188.3(HK1):c.96C>T (p.Ser32=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2123485	NM_000188.3(HK1):c.116T>C (p.Ile39Thr)	HK1 (I27T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007119	NM_000188.3(HK1):c.151C>T (p.Leu51Phe)	HK1 (L23F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1487208	NM_000188.3(HK1):c.158G>A (p.Arg53Gln)	HK1 (R25Q +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 1500586	NM_000188.3(HK1):c.169C>A (p.Pro57Thr)	HK1 (P45T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2412824	NM_000188.3(HK1):c.173C>T (p.Thr58Ile)	HK1 (T30I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1161541	NM_000188.3(HK1):c.177C>T (p.Ala59=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2574456	NM_000188.3(HK1):c.189G>A (p.Met63Ile)	HK1 (M35I +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1714862	NM_000188.3(HK1):c.194C>T (p.Pro65Leu)	HK1 (P100L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1386324	NM_000188.3(HK1):c.198A>G (p.Thr66=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 732119	NM_000188.3(HK1):c.198A>T (p.Thr66=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1156547	NM_000188.3(HK1):c.201C>T (p.Phe67=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1058057	NM_000188.3(HK1):c.214C>T (p.Pro72Ser)	HK1 (P107S +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306055	NM_000188.3(HK1):c.215C>T (p.Pro72Leu)	HK1 (P107L +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024756	NM_000188.3(HK1):c.226+2T>A	HK1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2994043	NM_000188.3(HK1):c.226+9G>A	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 724460	NM_000188.3(HK1):c.226+9G>T	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213819	NM_000188.3(HK1):c.227-5115A>T	HK1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with visual defects and brain anomalies	GUncertain significance
Select item 1946376	NM_000188.3(HK1):c.227-19C>T	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1957161	NM_000188.3(HK1):c.227-6A>G	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2033650	NM_000188.3(HK1):c.227-5A>C	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1520416	NM_000188.3(HK1):c.250G>A (p.Asp84Asn)	HK1 (D119N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038014	NM_000188.3(HK1):c.267del (p.Arg91fs)	HK1 (R63fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2041515	NM_000188.3(HK1):c.267C>G (p.Ser89=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1709823	NM_000188.3(HK1):c.271C>T (p.Arg91Ter)	HK1 (R126* +5 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2816113	NM_000188.3(HK1):c.280C>A (p.Arg94=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1394976	NM_000188.3(HK1):c.280C>T (p.Arg94Trp)	HK1 (R93W +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1438859	NM_000188.3(HK1):c.281G>A (p.Arg94Gln)	HK1 (R82Q +5 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1438773	NM_000188.3(HK1):c.296A>G (p.His99Arg)	HK1 (H134R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2045670	NM_000188.3(HK1):c.305A>C (p.Asn102Thr)	HK1 (N106T +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 839762	NM_000188.3(HK1):c.308A>G (p.Gln103Arg)	HK1 (Q103R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1404044	NM_000188.3(HK1):c.316C>T (p.His106Tyr)	HK1 (H78Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357270	NM_000188.3(HK1):c.317A>T (p.His106Leu)	HK1 (H106L +5 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 1921177	NM_000188.3(HK1):c.327C>T (p.Ser109=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482282	NM_000188.3(HK1):c.352A>G (p.Ile118Val)	HK1 (I106V +5 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1132922	NM_000188.3(HK1):c.360C>T (p.His120=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1163914	NM_000188.3(HK1):c.371G>A (p.Ser124Asn)	HK1 (S112N +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166096	NM_000188.3(HK1):c.372C>T (p.Ser124=)	HK1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1100113	NM_000188.3(HK1):c.375+10T>C	HK1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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