CHSY3[gene] - ClinVar

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Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 58356	GRCh38/hg38 5q23.2-31.1(chr5:126438406-132873967)x1	LOC129994513, LOC129994514 +200 more	Copy number loss	See cases	GPathogenic
Select item 147728	GRCh38/hg38 5q23.3(chr5:129444185-129973967)x3	ADAMTS19, ADAMTS19-AS1 +3 more	Copy number gain	See cases	GUncertain significance
Select item 149858	GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3	LOC129994992, LOC129994993 +1157 more	Copy number gain	See cases	GPathogenic
Select item 2609853	NM_175856.5(CHSY3):c.158C>T (p.Ala53Val)	CHSY3 (A53V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282119	NM_175856.5(CHSY3):c.164C>A (p.Pro55His)	CHSY3 (P55H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363923	NM_175856.5(CHSY3):c.197C>T (p.Pro66Leu)	CHSY3 (P66L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2397977	NM_175856.5(CHSY3):c.205C>G (p.Arg69Gly)	CHSY3 (R69G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330219	NM_175856.5(CHSY3):c.212G>C (p.Arg71Pro)	CHSY3 (R71P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389205	NM_175856.5(CHSY3):c.242A>G (p.Gln81Arg)	CHSY3 (Q81R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476409	NM_175856.5(CHSY3):c.280G>A (p.Gly94Arg)	CHSY3 (G94R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386767	NM_175856.5(CHSY3):c.421G>A (p.Ala141Thr)	CHSY3 (A141T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405959	NM_175856.5(CHSY3):c.433C>T (p.Arg145Trp)	CHSY3 (R145W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144804	NM_175856.5(CHSY3):c.437G>C (p.Arg146Thr)	CHSY3 (R146T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404936	NM_175856.5(CHSY3):c.466G>C (p.Gly156Arg)	CHSY3 (G156R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396949	NM_175856.5(CHSY3):c.479G>C (p.Gly160Ala)	CHSY3 (G160A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349252	NM_175856.5(CHSY3):c.479G>A (p.Gly160Glu)	CHSY3 (G160E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269727	NM_175856.5(CHSY3):c.511G>C (p.Asp171His)	CHSY3 (D171H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392311	NM_175856.5(CHSY3):c.590G>A (p.Arg197His)	CHSY3 (R197H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144805	NM_175856.5(CHSY3):c.650C>G (p.Pro217Arg)	CHSY3 (P217R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144806	NM_175856.5(CHSY3):c.674C>G (p.Ala225Gly)	CHSY3 (A225G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352879	NM_175856.5(CHSY3):c.752T>C (p.Leu251Pro)	CHSY3 (L251P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279827	NM_175856.5(CHSY3):c.768G>T (p.Trp256Cys)	CHSY3 (W256C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144807	NM_175856.5(CHSY3):c.854A>T (p.Tyr285Phe)	CHSY3 (Y285F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2409214	NM_175856.5(CHSY3):c.985A>G (p.Ile329Val)	CHSY3 (I329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456330	NM_175856.5(CHSY3):c.989G>T (p.Gly330Val)	CHSY3 (G330V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207662	NM_175856.5(CHSY3):c.1000A>G (p.Arg334Gly)	CHSY3 (R334G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242657	NM_175856.5(CHSY3):c.1045G>A (p.Val349Ile)	CHSY3 (V349I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 145899	GRCh38/hg38 5q23.3(chr5:130147444-130290374)x3	CHSY3, LOC112997557 +1 more	Copy number gain	See cases	GLikely benign
Select item 2324443	NM_175856.5(CHSY3):c.1093C>A (p.Gln365Lys)	CHSY3 (Q365K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482551	NM_175856.5(CHSY3):c.1121A>G (p.Asn374Ser)	CHSY3 (N374S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144793	NM_175856.5(CHSY3):c.1124G>A (p.Arg375Gln)	CHSY3 (R375Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234778	NM_175856.5(CHSY3):c.1171A>G (p.Ile391Val)	CHSY3 (I391V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556230	NM_175856.5(CHSY3):c.1322A>C (p.Lys441Thr)	CHSY3 (K441T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367396	NM_175856.5(CHSY3):c.1386A>C (p.Glu462Asp)	CHSY3 (E462D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556057	NM_175856.5(CHSY3):c.1458C>A (p.Ser486Arg)	CHSY3 (S486R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144795	NM_175856.5(CHSY3):c.1467C>G (p.Ser489Arg)	CHSY3 (S489R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336154	NM_175856.5(CHSY3):c.1490A>G (p.Asp497Gly)	CHSY3 (D497G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364844	NM_175856.5(CHSY3):c.1495G>A (p.Val499Ile)	CHSY3 (V499I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144796	NM_175856.5(CHSY3):c.1507A>G (p.Met503Val)	CHSY3 (M503V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144797	NM_175856.5(CHSY3):c.1519A>G (p.Asn507Asp)	CHSY3 (N507D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615790	NM_175856.5(CHSY3):c.1561G>A (p.Glu521Lys)	CHSY3 (E521K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144798	NM_175856.5(CHSY3):c.1580G>T (p.Arg527Leu)	CHSY3 (R527L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481763	NM_175856.5(CHSY3):c.1624C>T (p.Leu542Phe)	CHSY3 (L542F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300310	NM_175856.5(CHSY3):c.1724C>T (p.Thr575Ile)	CHSY3 (T575I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405327	NM_175856.5(CHSY3):c.1737T>G (p.Asp579Glu)	CHSY3 (D579E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267672	NM_175856.5(CHSY3):c.1760T>A (p.Ile587Asn)	CHSY3 (I587N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335434	NM_175856.5(CHSY3):c.1847A>C (p.His616Pro)	CHSY3 (H616P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333505	NM_175856.5(CHSY3):c.1873G>C (p.Val625Leu)	CHSY3 (V625L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545076	NM_175856.5(CHSY3):c.1879C>G (p.Leu627Val)	CHSY3 (L627V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144799	NM_175856.5(CHSY3):c.1885G>A (p.Gly629Arg)	CHSY3 (G629R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376312	NM_175856.5(CHSY3):c.1932G>T (p.Met644Ile)	CHSY3 (M644I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464099	NM_175856.5(CHSY3):c.1933T>C (p.Cys645Arg)	CHSY3 (C645R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609394	NM_175856.5(CHSY3):c.1990G>A (p.Gly664Ser)	CHSY3 (G664S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211056	NM_175856.5(CHSY3):c.2027G>A (p.Gly676Glu)	CHSY3 (G676E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3144801	NM_175856.5(CHSY3):c.2065A>C (p.Ile689Leu)	CHSY3 (I689L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610753	NM_175856.5(CHSY3):c.2090G>T (p.Arg697Ile)	CHSY3 (R697I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535486	NM_175856.5(CHSY3):c.2188C>G (p.Arg730Gly)	CHSY3 (R730G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609430	NM_175856.5(CHSY3):c.2204C>A (p.Thr735Lys)	CHSY3 (T735K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281451	NM_175856.5(CHSY3):c.2306C>T (p.Ser769Leu)	CHSY3 (S769L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263425	NM_175856.5(CHSY3):c.2377G>A (p.Ala793Thr)	CHSY3 (A793T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352336	NM_175856.5(CHSY3):c.2396C>T (p.Ser799Leu)	CHSY3 (S799L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369557	NM_175856.5(CHSY3):c.2405G>T (p.Gly802Val)	CHSY3 (G802V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144802	NM_175856.5(CHSY3):c.2431T>C (p.Tyr811His)	CHSY3 (Y811H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320772	NM_175856.5(CHSY3):c.2473C>G (p.Gln825Glu)	CHSY3 (Q825E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600099	NM_175856.5(CHSY3):c.2566A>C (p.Ser856Arg)	CHSY3 (S856R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144803	NM_175856.5(CHSY3):c.2574C>T (p.Phe858=)	CHSY3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 2531011	NM_175856.5(CHSY3):c.2575G>A (p.Ala859Thr)	CHSY3 (A859T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684430	GRCh37/hg19 5q23.3(chr5:129471317-129700483)x3	CHSY3	Copy number gain	not provided	GUncertain significance
Select item 2684429	GRCh37/hg19 5q23.3(chr5:127909723-130536409)x3	ADAMTS19, CHSY3 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2506534	GRCh37/hg19 5q23.3-31.1(chr5:127800418-134002686)	ACSL6, ADAMTS19 +44 more	Copy number loss	Houge-Janssens syndrome 3	GPathogenic
Select item 1809208	GRCh37/hg19 5q23.3(chr5:128717761-129797845)x4	ADAMTS19, CHSY3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527192	GRCh37/hg19 5q23.3(chr5:129338586-129857014)	CHSY3	Copy number loss	not specified	GUncertain significance
Select item 814745	GRCh37/hg19 5q23.3(chr5:128748553-129357269)x4	ADAMTS19, CHSY3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 624508	GRCh37/hg19 5q23.2-31.2(chr5:126377719-136270989)x1	ACSL6, ADAMTS19 +68 more	Copy number loss	not provided	GLikely pathogenic
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	ATG12, ATOX1 +385 more	Deletion	Familial adenomatous polyposis 1 +1 more	GPathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

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Items: 86