84947[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155377	GRCh38/hg38 6q23.2-27(chr6:133537271-165875545)x3	LOC129997450, LOC129997451 +1002 more	Copy number gain	See cases	GPathogenic
Select item 57020	GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3	LOC129389719, LOC129389720 +866 more	Copy number gain	See cases	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 150766	GRCh38/hg38 6q25.1-25.3(chr6:150381239-159553952)x1	AKAP12, ARID1B +288 more	Copy number loss	See cases	GPathogenic
Select item 2579284	GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1	AKAP12, ARID1B +208 more	Copy number loss	Coffin-Siris syndrome 1	GPathogenic
Select item 154527	GRCh38/hg38 6q25.2-27(chr6:152376338-170612001)x3	LOC101929460, LOC102724087 +572 more	Copy number gain	See cases	GPathogenic
Select item 153525	GRCh38/hg38 6q25.2-27(chr6:152793402-170610394)x1	LOC129997640, LOC129997641 +564 more	Copy number loss	See cases	GPathogenic
Select item 58453	GRCh38/hg38 6q25.2-27(chr6:154118058-170602152)x1	ACAT2, AFDN +549 more	Copy number loss	See cases	GPathogenic
Select item 145547	GRCh38/hg38 6q25.2-25.3(chr6:154178964-159020369)x1	ARID1B, CLDN20 +188 more	Copy number loss	See cases	GLikely pathogenic
Select item 148306	GRCh38/hg38 6q25.2-27(chr6:154539655-170714507)x1	IGF2R, KIF25 +540 more	Copy number loss	See cases	GPathogenic
Select item 148765	GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1	SOD2, SOD2-OT1 +270 more	Copy number loss	See cases	GPathogenic
Select item 58157	GRCh38/hg38 6q25.3(chr6:157827805-159726548)x3	DYNLT1, EZR +100 more	Copy number gain	See cases	GPathogenic
Select item 1211760	NM_032861.4(SERAC1):c.*296AG[2]	SERAC1	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 2500852	NM_032861.4(SERAC1):c.*258G>A	SERAC1	Single nucleotide variant (3 prime UTR variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GBenign
Select item 1282099	NM_032861.4(SERAC1):c.*211T>C	SERAC1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 215138	NM_032861.4(SERAC1):c.*16A>G	SERAC1	Single nucleotide variant (3 prime UTR variant)	not specified	GBenign
Select item 3000029	NM_032861.4(SERAC1):c.1963_*1del (p.Ter655SerextTer?)	SERAC1	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2037441	NM_032861.4(SERAC1):c.1965A>G (p.Ter655=)	SERAC1	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 1375644	NM_032861.4(SERAC1):c.1962C>G (p.Asn654Lys)	SERAC1 (N654K)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2075763	NM_032861.4(SERAC1):c.1934G>A (p.Arg645His)	SERAC1 (R645H)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 1187183	NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys)	SERAC1 (R645C)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign/Likely benign
Select item 2016801	NM_032861.4(SERAC1):c.1926_1930del (p.Gln642fs)	SERAC1 (Q642fs)	Deletion (frameshift variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2177816	NM_032861.4(SERAC1):c.1916G>A (p.Arg639His)	SERAC1 (R639H)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 215146	NM_032861.4(SERAC1):c.1916G>C (p.Arg639Pro)	SERAC1 (R639P)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1395622	NM_032861.4(SERAC1):c.1915C>T (p.Arg639Cys)	SERAC1 (R639C)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2344937	NM_032861.4(SERAC1):c.1876A>G (p.Ile626Val)	SERAC1 (I626V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1184550	NM_032861.4(SERAC1):c.1850_1851insA (p.Pro618fs)	SERAC1 (P618fs)	Insertion (frameshift variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 2125151	NM_032861.4(SERAC1):c.1848A>G (p.Leu616=)	SERAC1	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 1413327	NM_032861.4(SERAC1):c.1846C>A (p.Leu616Ile)	SERAC1 (L616I)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 1050396	NM_032861.4(SERAC1):c.1843G>A (p.Asp615Asn)	SERAC1 (D615N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163961	NM_032861.4(SERAC1):c.1839T>A (p.Ile613=)	SERAC1	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2092514	NM_032861.4(SERAC1):c.1829-6C>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2657082	NM_032861.4(SERAC1):c.1828+29G>A	SERAC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 420150	NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG	SERAC1	Indel (splice donor variant)	not provided +2 more	GLikely pathogenic
Select item 378571	NM_032861.4(SERAC1):c.1828+10C>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GLikely benign
Select item 1031524	NM_032861.4(SERAC1):c.1828+3A>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2046017	NM_032861.4(SERAC1):c.1825G>A (p.Ala609Thr)	SERAC1 (A609T)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 764158	NM_032861.4(SERAC1):c.1821A>G (p.Glu607=)	SERAC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2112399	NM_032861.4(SERAC1):c.1793T>C (p.Met598Thr)	SERAC1 (M598T)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2128044	NM_032861.4(SERAC1):c.1785T>C (p.Ile595=)	SERAC1	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2090203	NM_032861.4(SERAC1):c.1766A>C (p.Glu589Ala)	SERAC1 (E589A)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 645684	NM_032861.4(SERAC1):c.1765G>A (p.Glu589Lys)	SERAC1 (E589K)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 1031004	NM_032861.4(SERAC1):c.1763del (p.Val588fs)	SERAC1 (V588fs)	Deletion (frameshift variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1025302	NM_032861.4(SERAC1):c.1762G>A (p.Val588Met)	SERAC1 (V588M)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 810035	NM_032861.4(SERAC1):c.1742dup (p.Asn581fs)	SERAC1 (N581fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1441016	NM_032861.4(SERAC1):c.1725_1727dup (p.Glu575_Phe576insLeu)	SERAC1	Duplication (inframe_insertion)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2227770	NM_032861.4(SERAC1):c.1725G>C (p.Glu575Asp)	SERAC1 (E575D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2068596	NM_032861.4(SERAC1):c.1720C>G (p.Leu574Val)	SERAC1 (L574V)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2657083	NM_032861.4(SERAC1):c.1710A>G (p.Gln570=)	SERAC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2018769	NM_032861.4(SERAC1):c.1704A>G (p.Thr568=)	SERAC1	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2585592	NM_032861.4(SERAC1):c.1693_1694dup (p.Leu566fs)	SERAC1 (L566fs)	Duplication (frameshift variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 966020	NM_032861.4(SERAC1):c.1688C>G (p.Ser563Cys)	SERAC1 (S563C)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +2 more	GUncertain significance
Select item 1387672	NM_032861.4(SERAC1):c.1685-3C>T	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 1653123	NM_032861.4(SERAC1):c.1685-12A>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 1187430	NM_032861.4(SERAC1):c.1685-125_1685-124del	SERAC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1191845	NM_032861.4(SERAC1):c.1684+224_1684+226del	SERAC1	Microsatellite (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1179660	NM_032861.4(SERAC1):c.1684+209T>C	SERAC1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1211090	NM_032861.4(SERAC1):c.1684+168T>C	SERAC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GLikely benign
Select item 1214073	NM_032861.4(SERAC1):c.1684+91_1684+92insTTCCTTGAATGTATTATCTTATTTTATA	SERAC1	Insertion (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1951375	NM_032861.4(SERAC1):c.1684+20A>G	SERAC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2042498	NM_032861.4(SERAC1):c.1684+10T>C	SERAC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 1650754	NM_032861.4(SERAC1):c.1684+7C>T	SERAC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 1111547	NM_032861.4(SERAC1):c.1684+7C>A	SERAC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2864130	NM_032861.4(SERAC1):c.1684+2T>C	SERAC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely pathogenic
Select item 1525175	NM_032861.4(SERAC1):c.1684+1G>T	SERAC1	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely pathogenic
Select item 1711649	NM_032861.4(SERAC1):c.1667T>A (p.Val556Asp)	SERAC1 (V556D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1057290	NM_032861.4(SERAC1):c.1660T>G (p.Leu554Val)	SERAC1 (L554V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 791706	NM_032861.4(SERAC1):c.1659G>A (p.Ser553=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GBenign/Likely benign
Select item 1087020	NM_032861.4(SERAC1):c.1653C>T (p.Phe551=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 430608	NM_032861.4(SERAC1):c.1643_1646dup (p.Leu550fs)	SERAC1 (L550fs)	Duplication (frameshift variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 1470232	NM_032861.4(SERAC1):c.1642T>C (p.Tyr548His)	SERAC1 (Y548H)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 1045240	NM_032861.4(SERAC1):c.1640G>A (p.Arg547His)	SERAC1 (R547H)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2909461	NM_032861.4(SERAC1):c.1635T>C (p.Asn545=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 215148	NM_032861.4(SERAC1):c.1628_1629dup (p.Val544fs)	SERAC1 (V544fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2184921	NM_032861.4(SERAC1):c.1628C>T (p.Ser543Phe)	SERAC1 (S543F)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2179731	NM_032861.4(SERAC1):c.1611A>C (p.Ser537=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 3160213	NM_032861.4(SERAC1):c.1607G>T (p.Gly536Val)	SERAC1 (G536V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2484786	NM_032861.4(SERAC1):c.1600C>T (p.His534Tyr)	SERAC1 (H534Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3028908	NM_032861.4(SERAC1):c.1598C>T (p.Pro533Leu)	SERAC1 (P533L)	Single nucleotide variant (missense variant +1 more)	SERAC1-related neurological disorder	GLikely pathogenic
Select item 391194	NM_032861.4(SERAC1):c.1592G>A (p.Ser531Asn)	SERAC1 (S531N)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 446407	NM_032861.4(SERAC1):c.1577G>A (p.Gly526Glu)	SERAC1 (G526E)	Single nucleotide variant (non-coding transcript variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 3034754	NM_032861.4(SERAC1):c.1566C>T (p.Asn522=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	SERAC1-related disorder	GLikely benign
Select item 1142467	NM_032861.4(SERAC1):c.1539G>A (p.Thr513=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 858150	NM_032861.4(SERAC1):c.1538C>T (p.Thr513Met)	SERAC1 (T513M)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GUncertain significance
Select item 1406661	NM_032861.4(SERAC1):c.1537A>G (p.Thr513Ala)	SERAC1 (T513A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 215143	NM_032861.4(SERAC1):c.1535C>T (p.Ser512Phe)	SERAC1 (S512F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2797127	NM_032861.4(SERAC1):c.1519_1521dup (p.Met507_Leu508insMet)	SERAC1	Duplication (inframe_insertion +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 1329462	NM_032861.4(SERAC1):c.1504CTT[1] (p.Leu503del)	SERAC1 (L503del)	Microsatellite (inframe_deletion +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 1367011	NM_032861.4(SERAC1):c.1505T>G (p.Leu502Arg)	SERAC1 (L502R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2851830	NM_032861.4(SERAC1):c.1502-16C>T	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 508979	NM_032861.4(SERAC1):c.1502-24dup	SERAC1	Duplication (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1627282	NM_032861.4(SERAC1):c.1502-20T>A	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 671615	NM_032861.4(SERAC1):c.1502-113T>A	SERAC1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212700	NM_032861.4(SERAC1):c.1502-216_1502-215insTTA	SERAC1	Insertion (intron variant)	not provided	GLikely benign
Select item 1207922	NM_032861.4(SERAC1):c.1502-248A>G	SERAC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1206461	NM_032861.4(SERAC1):c.1502-272C>G	SERAC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217590	NM_032861.4(SERAC1):c.1501+170G>C	SERAC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196421	NM_032861.4(SERAC1):c.1501+118T>C	SERAC1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197183	NM_032861.4(SERAC1):c.1501+69_1501+73del	SERAC1	Deletion (intron variant)	not provided	GLikely benign
Select item 1668351	NM_032861.4(SERAC1):c.1501+16A>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign

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