ClinVar for Gene (Select 57531) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370721	NM_020771.4(HACE1):c.2482A>G (p.Arg828Gly)	HACE1 (R567G +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3348677	NM_020771.4(HACE1):c.558T>C (p.Ser186=)	HACE1	Single nucleotide variant (synonymous variant +3 more)	HACE1-related disorder	GUncertain significance
Select item 3343579	NM_020771.4(HACE1):c.1401G>A (p.Met467Ile)	HACE1 (M206I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3246237	NC_000006.11:g.(?_105231941)_(105259288_?)dup	HACE1	Duplication	not provided	GUncertain significance
Select item 3242256	NM_020771.4(HACE1):c.1759del (p.His587fs)	HACE1 (H326fs +8 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia-severe developmental delay-epilepsy syndrome	GLikely pathogenic
Select item 3104113	NM_020771.4(HACE1):c.712C>A (p.Gln238Lys)	HACE1 (Q141K +7 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3104112	NM_020771.4(HACE1):c.359A>G (p.Tyr120Cys)	HACE1 (Y120C +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 3104110	NM_020771.4(HACE1):c.1455A>C (p.Glu485Asp)	HACE1 (E485D +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3104109	NM_020771.4(HACE1):c.1162A>G (p.Ile388Val)	HACE1 (I220V +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3104108	NM_020771.4(HACE1):c.1124C>A (p.Ala375Asp)	HACE1 (A278D +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3068745	NM_020771.4(HACE1):c.859C>T (p.Gln287Ter)	HACE1 (Q119* +8 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia-severe developmental delay-epilepsy syndrome	GPathogenic
Select item 3065208	NM_020771.4(HACE1):c.535-686A>G	HACE1	Single nucleotide variant (intron variant)	Spastic paraplegia-severe developmental delay-epilepsy syndrome	GUncertain significance
Select item 3049501	NM_020771.4(HACE1):c.939T>C (p.Tyr313=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	HACE1-related disorder	GLikely benign
Select item 3047819	NM_020771.4(HACE1):c.2627+8G>T	HACE1	Single nucleotide variant (intron variant)	HACE1-related disorder	GLikely benign
Select item 3030552	NM_020771.4(HACE1):c.76+9G>A	HACE1, LOC113121301	Single nucleotide variant (intron variant)	HACE1-related disorder	GLikely benign
Select item 3022165	NM_020771.4(HACE1):c.57C>T (p.Arg19=)	HACE1, LOC113121301	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3020571	NM_020771.4(HACE1):c.987C>T (p.His329=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2995128	NM_020771.4(HACE1):c.222-10A>G	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2990249	NM_020771.4(HACE1):c.2211+20C>T	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2984049	NM_020771.4(HACE1):c.714+11C>T	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982269	NM_020771.4(HACE1):c.2212-1G>A	HACE1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2982093	NM_020771.4(HACE1):c.327-10_327-9del	HACE1	Deletion (intron variant)	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 2960122	NM_020771.4(HACE1):c.2442+17G>A	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899827	NM_020771.4(HACE1):c.618-8C>T	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2879449	NM_020771.4(HACE1):c.76+9G>T	HACE1, LOC113121301	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 2873860	NM_020771.4(HACE1):c.1353G>A (p.Arg451=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2847791	NM_020771.4(HACE1):c.1254T>C (p.Asn418=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2846364	NM_020771.4(HACE1):c.2443-15dup	HACE1	Duplication (intron variant)	not provided	GBenign
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 2809668	NM_020771.4(HACE1):c.132-18A>G	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2785476	NM_020771.4(HACE1):c.535-19_535-16del	HACE1	Deletion (intron variant)	not provided	GLikely benign
Select item 2782987	NM_020771.4(HACE1):c.2442+18C>T	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2722454	NM_020771.4(HACE1):c.1896T>C (p.Tyr632=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2717405	NM_020771.4(HACE1):c.363C>T (p.Ser121=)	HACE1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2710222	NM_020771.4(HACE1):c.1263T>C (p.Thr421=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2684451	GRCh37/hg19 6q16.3(chr6:105231564-105479219)x3	HACE1, LIN28B	Copy number gain	not provided	GUncertain significance
Select item 2656802	NM_020771.4(HACE1):c.60C>T (p.Thr20=)	HACE1, LOC113121301	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2656801	NM_020771.4(HACE1):c.192G>A (p.Val64=)	HACE1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign/Likely benign
Select item 2656800	NM_020771.4(HACE1):c.366T>C (p.Ala122=)	HACE1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2629857	NM_020771.4(HACE1):c.1049_1050insC (p.Lys350fs)	HACE1 (K156fs +8 more)	Insertion (frameshift variant +1 more)	HACE1-related disorder	GLikely pathogenic
Select item 2488633	NM_020771.4(HACE1):c.1303C>A (p.Gln435Lys)	HACE1 (Q174K +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2480955	NM_020771.4(HACE1):c.560G>T (p.Gly187Val)	HACE1 (G109V +4 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2432357	NM_020771.4(HACE1):c.145CTA[1] (p.Leu50del)	HACE1 (L16del +1 more)	Microsatellite (inframe_deletion +2 more)	Spastic paraplegia-severe developmental delay-epilepsy syndrome	GUncertain significance
Select item 2432356	NM_020771.4(HACE1):c.1015A>G (p.Ser339Gly)	HACE1 (S145G +8 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia-severe developmental delay-epilepsy syndrome	GUncertain significance
Select item 2428331	NM_020771.4(HACE1):c.816+8A>G	HACE1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2426591	NC_000006.11:g.(?_105259166)_(105307517_?)dup	HACE1	Duplication	not provided	GUncertain significance
Select item 2426590	NC_000006.11:g.(?_105239359)_(105239549_?)del	HACE1	Deletion	not provided	GPathogenic
Select item 2419311	NM_020771.4(HACE1):c.978G>A (p.Met326Ile)	HACE1 (M132I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2416091	NM_020771.4(HACE1):c.2513+5G>A	HACE1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2334766	NM_020771.4(HACE1):c.1237C>G (p.Pro413Ala)	HACE1 (P219A +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 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 2295303	NM_020771.4(HACE1):c.1193A>G (p.Gln398Arg)	HACE1 (Q230R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2245069	NM_020771.4(HACE1):c.357A>C (p.Glu119Asp)	HACE1 (E119D +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2231477	NM_020771.4(HACE1):c.806G>A (p.Arg269Gln)	HACE1 (R225Q +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2228107	NM_020771.4(HACE1):c.422A>T (p.Asn141Ile)	HACE1 (M1L +2 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 2217643	NM_020771.4(HACE1):c.281A>G (p.Gln94Arg)	HACE1 (Q94R +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 2201718	NM_020771.4(HACE1):c.1315G>A (p.Ala439Thr)	HACE1 (A178T +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2196015	NM_020771.4(HACE1):c.825A>C (p.Gln275His)	HACE1 (Q113H +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 2176530	NM_020771.4(HACE1):c.1001G>A (p.Gly334Asp)	HACE1 (G172D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175238	NM_020771.4(HACE1):c.1406C>T (p.Pro469Leu)	HACE1 (P372L +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2175118	NM_020771.4(HACE1):c.1953G>A (p.Ala651=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2174396	NM_020771.4(HACE1):c.750A>G (p.Gln250=)	HACE1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 2170325	NM_020771.4(HACE1):c.535-8C>T	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157114	NM_020771.4(HACE1):c.618-9del	HACE1	Deletion (intron variant)	not provided	GLikely benign
Select item 2155109	NM_020771.4(HACE1):c.573C>T (p.Asn191=)	HACE1	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2145564	NM_020771.4(HACE1):c.176A>G (p.Tyr59Cys)	HACE1 (Y25C +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2144370	NM_020771.4(HACE1):c.77-7dup	HACE1	Duplication (intron variant)	not provided	GBenign
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 2130379	NM_020771.4(HACE1):c.1283C>A (p.Pro428Gln)	HACE1 (P234Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2119295	NM_020771.4(HACE1):c.338G>A (p.Cys113Tyr)	HACE1 (C79Y +1 more)	Single nucleotide variant (missense variant +3 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 2108948	NM_020771.4(HACE1):c.221+16T>C	HACE1	Single nucleotide variant (intron variant)	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 2091472	NM_020771.4(HACE1):c.772A>C (p.Thr258Pro)	HACE1 (T180P +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2089617	NM_020771.4(HACE1):c.77-15_77-14insGG	HACE1	Insertion (intron variant)	not provided	GLikely benign
Select item 2087354	NM_020771.4(HACE1):c.2343+15C>G	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2062180	NM_020771.4(HACE1):c.988G>A (p.Val330Ile)	HACE1 (V162I +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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
Select item 2049421	NM_020771.4(HACE1):c.1221A>G (p.Pro407=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2040429	NM_020771.4(HACE1):c.927C>T (p.Leu309=)	HACE1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2039047	NM_020771.4(HACE1):c.1014dup (p.Ser339fs)	HACE1 (S171fs +8 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2023950	NM_020771.4(HACE1):c.2628-5T>C	HACE1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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