HACE1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	LINC00222, LINC02526 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 154162	GRCh38/hg38 6q16.3(chr6:104094035-104885245)x3	HACE1, LOC110121109 +6 more	Copy number gain	See cases	GUncertain significance
Select item 144911	GRCh38/hg38 6q16.3(chr6:104501910-104729309)x1	HACE1, LOC110121109 +2 more	Copy number loss	See cases	GBenign
Select item 2015623	NM_020771.4(HACE1):c.2698C>T (p.His900Tyr)	HACE1 (H706Y +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1897031	NM_020771.4(HACE1):c.2683C>G (p.Leu895Val)	HACE1 (L701V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2023950	NM_020771.4(HACE1):c.2628-5T>C	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1976140	NM_020771.4(HACE1):c.2628-15A>T	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3047819	NM_020771.4(HACE1):c.2627+8G>T	HACE1	Single nucleotide variant (intron variant)	HACE1-related condition	GLikely benign
Select item 1307512	NM_020771.4(HACE1):c.2627+6T>G	HACE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2274608	NM_020771.4(HACE1):c.2605C>A (p.Leu869Ile)	HACE1 (L791I +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 769685	NM_020771.4(HACE1):c.2592A>G (p.Pro864=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 731970	NM_020771.4(HACE1):c.2580C>T (p.Ile860=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1331677	NM_020771.4(HACE1):c.2552dup (p.Gly852fs)	HACE1 (G591fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1541259	NM_020771.4(HACE1):c.2526A>G (p.Pro842=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1617729	NM_020771.4(HACE1):c.2513+20T>A	HACE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1953013	NM_020771.4(HACE1):c.2513+19A>G	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961076	NM_020771.4(HACE1):c.2513+18G>A	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907950	NM_020771.4(HACE1):c.2513+17T>C	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2416091	NM_020771.4(HACE1):c.2513+5G>A	HACE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1985010	NM_020771.4(HACE1):c.2511C>G (p.Gly837=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1501079	NM_020771.4(HACE1):c.2508G>A (p.Thr836=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2010848	NM_020771.4(HACE1):c.2494T>C (p.Leu832=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 221292	NM_020771.4(HACE1):c.2487TCT[1] (p.Leu832del)	HACE1 (L832del +8 more)	Microsatellite (inframe_deletion +1 more)	not provided	GUncertain significance
Select item 1965324	NM_020771.4(HACE1):c.2467A>G (p.Ile823Val)	HACE1 (I779V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1900888	NM_020771.4(HACE1):c.2463A>G (p.Glu821=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1599999	NM_020771.4(HACE1):c.2443-5_2443-3del	HACE1	Microsatellite (intron variant)	Spastic paraplegia-severe developmental delay-epilepsy syndrome +1 more	GBenign
Select item 742131	NM_020771.4(HACE1):c.2443-8G>C	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846364	NM_020771.4(HACE1):c.2443-15dup	HACE1	Duplication (intron variant)	not provided	GBenign
Select item 2782987	NM_020771.4(HACE1):c.2442+18C>T	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960122	NM_020771.4(HACE1):c.2442+17G>A	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011956	NM_020771.4(HACE1):c.2442G>A (p.Gln814=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2483077	NM_020771.4(HACE1):c.2422A>G (p.Arg808Gly)	HACE1 (R614G +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2065691	NM_020771.4(HACE1):c.2403A>G (p.Glu801=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1962027	NM_020771.4(HACE1):c.2397T>C (p.Asn799=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1895636	NM_020771.4(HACE1):c.2390T>C (p.Ile797Thr)	HACE1 (I603T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2109720	NM_020771.4(HACE1):c.2365C>G (p.Pro789Ala)	HACE1 (P627A +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2087354	NM_020771.4(HACE1):c.2343+15C>G	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1991245	NM_020771.4(HACE1):c.2313C>T (p.Ser771=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1285324	NM_020771.4(HACE1):c.2292T>C (p.Phe764=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 2205408	NM_020771.4(HACE1):c.2273A>G (p.Asn758Ser)	HACE1 (N596S +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1962968	NM_020771.4(HACE1):c.2250A>G (p.Thr750=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 221290	NM_020771.4(HACE1):c.2242C>T (p.Arg748Ter)	HACE1 (R748* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 768105	NM_020771.4(HACE1):c.2235T>A (p.Thr745=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1948057	NM_020771.4(HACE1):c.2220C>T (p.Tyr740=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1435280	NM_020771.4(HACE1):c.2213C>T (p.Ala738Val)	HACE1 (A704V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2982269	NM_020771.4(HACE1):c.2212-1G>A	HACE1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2990249	NM_020771.4(HACE1):c.2211+20C>T	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1922434	NM_020771.4(HACE1):c.2196G>A (p.Val732=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2413526	NM_020771.4(HACE1):c.2100T>C (p.Ser700=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2094922	NM_020771.4(HACE1):c.2049T>A (p.Ile683=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 221291	NM_020771.3(HACE1):c.2019_2020insTTTAGGTATTTTTAGGTATT	HACE1	Microsatellite	Spastic paraplegia-severe developmental delay-epilepsy syndrome	GPathogenic
Select item 1901250	NM_020771.4(HACE1):c.2015-13T>C	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285325	NM_020771.4(HACE1):c.2014+27A>G	HACE1	Single nucleotide variant (intron variant)	Spastic paraplegia-severe developmental delay-epilepsy syndrome	GBenign
Select item 1902019	NM_020771.4(HACE1):c.2014+11A>G	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2877614	NM_020771.4(HACE1):c.2014+1G>A	HACE1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1928327	NM_020771.4(HACE1):c.2011C>G (p.Leu671Val)	HACE1 (L477V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3003989	NM_020771.4(HACE1):c.2007C>T (p.His669=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 523851	NM_020771.4(HACE1):c.1990C>T (p.Arg664Ter)	HACE1 (R664* +8 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia-severe developmental delay-epilepsy syndrome +1 more	GConflicting classifications of pathogenicity
Select item 733118	NM_020771.4(HACE1):c.1954T>C (p.Leu652=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2175118	NM_020771.4(HACE1):c.1953G>A (p.Ala651=)	HACE1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2418261	NM_020771.4(HACE1):c.1925G>A (p.Arg642Gln)	HACE1 (R381Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2309600	NM_020771.4(HACE1):c.1925G>T (p.Arg642Leu)	HACE1 (R480L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 722372	NM_020771.4(HACE1):c.1912T>C (p.Leu638=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2177462	NM_020771.4(HACE1):c.1905T>C (p.Pro635=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2722454	NM_020771.4(HACE1):c.1896T>C (p.Tyr632=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	HACE1-related condition +1 more	GLikely benign
Select item 2815863	NM_020771.4(HACE1):c.1872T>C (p.Thr624=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1990412	NM_020771.4(HACE1):c.1864+12A>G	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 221293	NM_020771.4(HACE1):c.1852_1853del (p.Gln618fs)	HACE1 (Q450fs +8 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia-severe developmental delay-epilepsy syndrome	GPathogenic
Select item 2014615	NM_020771.4(HACE1):c.1851C>G (p.Thr617=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2230663	NM_020771.4(HACE1):c.1832C>T (p.Pro611Leu)	HACE1 (P350L +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2806499	NM_020771.4(HACE1):c.1823T>G (p.Ile608Arg)	HACE1 (I414R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1905678	NM_020771.4(HACE1):c.1785T>G (p.Gly595=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1463778	NM_020771.4(HACE1):c.1761T>A (p.His587Gln)	HACE1 (H326Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1934017	NM_020771.4(HACE1):c.1750G>A (p.Val584Ile)	HACE1 (V506I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2174373	NM_020771.4(HACE1):c.1749T>G (p.Ala583=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1995966	NM_020771.4(HACE1):c.1747G>C (p.Ala583Pro)	HACE1 (A415P +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 802254	NM_020771.4(HACE1):c.1712C>A (p.Ser571Ter)	HACE1 (S377* +8 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia-severe developmental delay-epilepsy syndrome	GPathogenic
Select item 747048	NM_020771.4(HACE1):c.1686T>C (p.Ile562=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2332469	NM_020771.4(HACE1):c.1684A>G (p.Ile562Val)	HACE1 (I400V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1922755	NM_020771.4(HACE1):c.1679-15A>G	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990721	NM_020771.4(HACE1):c.1678+15_1678+18del	HACE1	Deletion (intron variant)	not provided	GLikely benign
Select item 2301247	NM_020771.4(HACE1):c.1640G>A (p.Arg547Lys)	HACE1 (R353K +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2992735	NM_020771.4(HACE1):c.1638C>T (p.His546=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2143912	NM_020771.4(HACE1):c.1631T>C (p.Met544Thr)	HACE1 (M382T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1674755	NM_020771.4(HACE1):c.1626A>G (p.Ser542=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1430085	NM_020771.4(HACE1):c.1606C>T (p.His536Tyr)	HACE1 (H458Y +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1925317	NM_020771.4(HACE1):c.1567-15dup	HACE1	Duplication (intron variant)	not provided	GLikely benign
Select item 1912121	NM_020771.4(HACE1):c.1567-15T>G	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1599596	NM_020771.4(HACE1):c.1567-20A>G	HACE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1921877	NM_020771.4(HACE1):c.1563A>G (p.Ala521=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 749180	NM_020771.4(HACE1):c.1524T>C (p.Cys508=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2980752	NM_020771.4(HACE1):c.1478+12G>C	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926268	NM_020771.4(HACE1):c.1461A>T (p.Leu487Phe)	HACE1 (L409F +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2858911	NM_020771.4(HACE1):c.1443C>T (p.Cys481=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1324524	NM_020771.4(HACE1):c.1443C>A (p.Cys481Ter)	HACE1 (C220* +8 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia-severe developmental delay-epilepsy syndrome	GLikely pathogenic
Select item 2052747	NM_020771.4(HACE1):c.1423C>T (p.Arg475Cys)	HACE1 (R281C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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