ClinVar for Gene (Select 84947) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3317507	NM_032861.4(SERAC1):c.376A>G (p.Ile126Val)	SERAC1 (I126V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3251203	NM_032861.4(SERAC1):c.1233C>T (p.Arg411=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3160215	NM_032861.4(SERAC1):c.686A>G (p.Tyr229Cys)	SERAC1 (Y229C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3160214	NM_032861.4(SERAC1):c.452C>T (p.Ala151Val)	SERAC1 (A151V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 3160212	NM_032861.4(SERAC1):c.1109C>G (p.Thr370Ser)	SERAC1 (T370S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3148927	GRCh37/hg19 6q25.2-27(chr6:152853218-170914297)x1	ACAT2, AFDN +79 more	Copy number loss	See cases	GPathogenic
Select item 3046880	NM_032861.4(SERAC1):c.186T>C (p.Asp62=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	SERAC1-related disorder	GLikely benign
Select item 3045916	NM_032861.4(SERAC1):c.1053C>T (p.Pro351=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	SERAC1-related disorder	GLikely benign
Select item 3045880	NM_032861.4(SERAC1):c.1308+8A>G	SERAC1	Single nucleotide variant (intron variant)	SERAC1-related disorder	GLikely benign
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 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 3024359	NM_032861.4(SERAC1):c.1228T>C (p.Trp410Arg)	SERAC1 (W410R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely pathogenic
Select item 3005836	NM_032861.4(SERAC1):c.162C>T (p.Ala54=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
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 2986812	NM_032861.4(SERAC1):c.852+16A>T	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2955080	NM_032861.4(SERAC1):c.876C>A (p.Ile292=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2920514	NM_032861.4(SERAC1):c.468G>A (p.Ser156=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2916178	NM_032861.4(SERAC1):c.134_137del (p.Ser45fs)	SERAC1 (S45fs)	Deletion (frameshift variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 2910767	NM_032861.4(SERAC1):c.885T>C (p.Asn295=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
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 2908487	NM_032861.4(SERAC1):c.1356G>A (p.Glu452=)	SERAC1	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2883615	NM_032861.4(SERAC1):c.1309-18A>G	SERAC1	Single nucleotide variant (intron variant)	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 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 2803736	NM_032861.4(SERAC1):c.1311A>G (p.Thr437=)	SERAC1	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2802226	NM_032861.4(SERAC1):c.610-17C>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
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 2782312	NM_032861.4(SERAC1):c.236_237del (p.Thr79fs)	SERAC1 (T79fs)	Microsatellite (frameshift variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 2772786	NM_032861.4(SERAC1):c.1260T>C (p.Ile420=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2771464	NM_032861.4(SERAC1):c.92-20del	SERAC1	Deletion (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2759584	NM_032861.4(SERAC1):c.698_699delinsAGTGATA (p.Leu233Ter)	SERAC1 (L233*)	Indel (nonsense +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 2756426	NM_032861.4(SERAC1):c.91+9A>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2705467	NM_032861.4(SERAC1):c.116C>G (p.Ser39Ter)	SERAC1 (S39*)	Single nucleotide variant (nonsense +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
Select item 2663766	NC_000006.12:g.(?_150381239)_(159553952_?)del	LOC129997480, LOC129997522 +288 more	Deletion	Chromosome 6q24-q25 deletion syndrome	GPathogenic
Select item 2657083	NM_032861.4(SERAC1):c.1710A>G (p.Gln570=)	SERAC1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657082	NM_032861.4(SERAC1):c.1828+29G>A	SERAC1	Single nucleotide variant (intron variant)	not provided	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 2584436	NM_032861.4(SERAC1):c.1339C>T (p.Arg447Ter)	SERAC1 (R447*)	Single nucleotide variant (nonsense)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	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 2573630	NM_032861.4(SERAC1):c.-1A>T	SERAC1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2548281	NM_032861.4(SERAC1):c.77A>G (p.His26Arg)	SERAC1 (H26R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2538787	NM_032861.4(SERAC1):c.835A>G (p.Ile279Val)	SERAC1 (I279V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504709	NM_032861.4(SERAC1):c.1231C>T (p.Arg411Cys)	SERAC1 (R411C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2431594	NM_032861.4(SERAC1):c.738+1927G>C	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2427078	NC_000006.11:g.(?_158532398)_(162868359_?)del	LPA, MAP3K4 +26 more	Deletion	not provided	GPathogenic
Select item 2420594	NM_032861.4(SERAC1):c.152A>G (p.Glu51Gly)	SERAC1 (E51G)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2404296	NM_032861.4(SERAC1):c.439A>C (p.Thr147Pro)	SERAC1 (T147P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398326	NM_032861.4(SERAC1):c.1264A>G (p.Lys422Glu)	SERAC1 (K422E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2398031	NM_032861.4(SERAC1):c.76C>T (p.His26Tyr)	SERAC1 (H26Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2388882	NM_032861.4(SERAC1):c.29G>C (p.Cys10Ser)	SERAC1 (C10S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2273824	NM_032861.4(SERAC1):c.334A>T (p.Ile112Leu)	SERAC1 (I112L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2271658	NM_032861.4(SERAC1):c.1163C>T (p.Thr388Ile)	SERAC1 (T388I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2230760	NM_032861.4(SERAC1):c.966del (p.Ile322fs)	SERAC1 (I322fs)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
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 2202623	NM_032861.4(SERAC1):c.734A>G (p.Gln245Arg)	SERAC1 (Q245R)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2201650	NM_032861.4(SERAC1):c.128+7C>T	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome +1 more	GLikely benign
Select item 2198401	NM_032861.4(SERAC1):c.555A>G (p.Glu185=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2197090	NM_032861.4(SERAC1):c.1089G>C (p.Leu363=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2196288	NM_032861.4(SERAC1):c.412C>T (p.Arg138Trp)	SERAC1 (R138W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2187363	NM_032861.4(SERAC1):c.1166G>A (p.Ser389Asn)	SERAC1 (S389N)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2185270	NM_032861.4(SERAC1):c.566T>C (p.Leu189Pro)	SERAC1 (L189P)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
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 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 2176359	NM_032861.4(SERAC1):c.301G>A (p.Ala101Thr)	SERAC1 (A101T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2170630	NM_032861.4(SERAC1):c.1396A>G (p.Met466Val)	SERAC1 (M466V)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2166184	NM_032861.4(SERAC1):c.1003A>G (p.Ile335Val)	SERAC1 (I335V)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2164551	NM_032861.4(SERAC1):c.536T>C (p.Ile179Thr)	SERAC1 (I179T)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2164495	NM_032861.4(SERAC1):c.340C>T (p.Arg114Trp)	SERAC1 (R114W)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2163976	NM_032861.4(SERAC1):c.1167-15T>C	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
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 2161828	NM_032861.4(SERAC1):c.458G>A (p.Arg153Gln)	SERAC1 (R153Q)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2156847	NM_032861.4(SERAC1):c.91+13T>A	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2155586	NM_032861.4(SERAC1):c.265+11T>C	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2145279	NM_032861.4(SERAC1):c.1501+5G>A	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2144282	NM_032861.4(SERAC1):c.1009C>T (p.Arg337Cys)	SERAC1 (R337C)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2141229	NM_032861.4(SERAC1):c.739-13A>G	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2136486	NM_032861.4(SERAC1):c.310A>T (p.Lys104Ter)	SERAC1 (K104*)	Single nucleotide variant (nonsense +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GPathogenic
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 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 2125035	NM_032861.4(SERAC1):c.429T>A (p.Asp143Glu)	SERAC1 (D143E)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2120471	NM_032861.4(SERAC1):c.897G>A (p.Gln299=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2117267	NM_032861.4(SERAC1):c.183A>G (p.Leu61=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GLikely benign
Select item 2114003	NM_032861.4(SERAC1):c.356-20G>C	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	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 2109751	NM_032861.4(SERAC1):c.194T>C (p.Val65Ala)	SERAC1 (V65A)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2098897	NM_032861.4(SERAC1):c.863A>C (p.His288Pro)	SERAC1 (H288P)	Single nucleotide variant (missense variant +1 more)	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 2090762	NM_032861.4(SERAC1):c.412C>A (p.Arg138=)	SERAC1	Single nucleotide variant (synonymous variant +1 more)	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 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 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 2065859	NM_032861.4(SERAC1):c.341G>A (p.Arg114Gln)	SERAC1 (R114Q)	Single nucleotide variant (missense variant +1 more)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2054070	NM_032861.4(SERAC1):c.738+5G>C	SERAC1	Single nucleotide variant (intron variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2053811	NM_032861.4(SERAC1):c.808A>G (p.Thr270Ala)	SERAC1 (T270A)	Single nucleotide variant (missense variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance
Select item 2050891	NM_032861.4(SERAC1):c.1374C>T (p.Ser458=)	SERAC1	Single nucleotide variant (synonymous variant)	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	GUncertain significance

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