CHSY1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147691	GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3	LOC130057943, LOC130057944 +664 more	Copy number gain	See cases	GPathogenic
Select item 146595	GRCh38/hg38 15q25.2-26.3(chr15:83711377-101843270)x3	LOC130057907, LOC130057908 +630 more	Copy number gain	See cases	GPathogenic
Select item 58580	GRCh38/hg38 15q25.2-26.3(chr15:84169153-101904929)x3	ABHD2, ACAN +611 more	Copy number gain	See cases	GPathogenic
Select item 153554	GRCh38/hg38 15q25.3-26.3(chr15:85397539-101888909)x3	ABHD2, ACAN +552 more	Copy number gain	See cases	GPathogenic
Select item 148189	GRCh38/hg38 15q25.3-26.3(chr15:85826665-101920998)x4	MIR11181, MIR1179 +517 more	Copy number gain	See cases	GPathogenic
Select item 146259	GRCh38/hg38 15q25.3-26.3(chr15:87904735-101843270)x3	LOC130057997, LOC130057998 +500 more	Copy number gain	See cases	GPathogenic
Select item 58582	GRCh38/hg38 15q26.1-26.3(chr15:89679237-101978958)x3	ADAMTS17, ALDH1A3 +422 more	Copy number gain	See cases	GPathogenic
Select item 152930	GRCh38/hg38 15q26.1-26.3(chr15:93041524-101941326)x3	ADAMTS17, ALDH1A3 +228 more	Copy number gain	See cases	GPathogenic
Select item 144251	GRCh38/hg38 15q26.1-26.3(chr15:93198717-101843270)x1	LYSMD4, MCTP2 +224 more	Copy number loss	See cases	GPathogenic
Select item 155620	GRCh38/hg38 15q26.2-26.3(chr15:93805032-101326876)x1	ADAMTS17, ALDH1A3 +205 more	Copy number loss	See cases	GPathogenic
Select item 57195	GRCh38/hg38 15q26.2-26.3(chr15:94033008-101843270)x3	ADAMTS17, ALDH1A3 +218 more	Copy number gain	See cases	GPathogenic
Select item 147708	GRCh38/hg38 15q26.2-26.3(chr15:95770627-101810992)x1	ADAMTS17, ALDH1A3 +202 more	Copy number loss	See cases	GPathogenic
Select item 155021	GRCh38/hg38 15q26.2-26.3(chr15:96024127-101920998)x1	ADAMTS17, ALDH1A3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59388	GRCh38/hg38 15q26.2-26.3(chr15:96069425-101849578)x1	ADAMTS17, ALDH1A3 +201 more	Copy number loss	See cases	GPathogenic
Select item 59402	GRCh38/hg38 15q26.2-26.3(chr15:96329791-101849578)x1	ADAMTS17, ALDH1A3 +195 more	Copy number loss	See cases	GPathogenic
Select item 146071	GRCh38/hg38 15q26.2-26.3(chr15:97014065-101843270)x1	ADAMTS17, ALDH1A3 +184 more	Copy number loss	See cases	GPathogenic
Select item 152750	GRCh38/hg38 15q26.2-26.3(chr15:97172754-101920998)x1	ADAMTS17, ALDH1A3 +185 more	Copy number loss	See cases	GPathogenic
Select item 151982	GRCh38/hg38 15q26.2-26.3(chr15:97283711-101920998)x3	ADAMTS17, ALDH1A3 +184 more	Copy number gain	See cases	GLikely pathogenic
Select item 155109	GRCh38/hg38 15q26.2-26.3(chr15:97681713-101920998)x1	ADAMTS17, ALDH1A3 +179 more	Copy number loss	See cases	GPathogenic
Select item 59404	GRCh38/hg38 15q26.2-26.3(chr15:97735430-101810992)x1	ADAMTS17, ALDH1A3 +174 more	Copy number loss	See cases	GPathogenic
Select item 150870	GRCh38/hg38 15q26.2-26.3(chr15:97941427-101797926)x1	ADAMTS17, ALDH1A3 +171 more	Copy number loss	See cases	GPathogenic
Select item 155459	GRCh38/hg38 15q26.3(chr15:98280297-101888909)x3	ADAMTS17, ALDH1A3 +165 more	Copy number gain	See cases	GPathogenic
Select item 154661	GRCh38/hg38 15q26.3(chr15:98467297-101843270)x1	ADAMTS17, ALDH1A3 +159 more	Copy number loss	See cases	GPathogenic
Select item 59405	GRCh38/hg38 15q26.3(chr15:98845807-101843270)x1	LOC130058070, LOC130058071 +148 more	Copy number loss	See cases	GPathogenic
Select item 145641	GRCh38/hg38 15q26.3(chr15:99155987-101843270)x1	ADAMTS17, ALDH1A3 +127 more	Copy number loss	See cases	GPathogenic
Select item 154512	GRCh38/hg38 15q26.3(chr15:99338283-101843270)x3	ADAMTS17, ALDH1A3 +121 more	Copy number gain	See cases	GPathogenic
Select item 146679	GRCh38/hg38 15q26.3(chr15:100194660-101373649)x3	ADAMTS17, ALDH1A3 +69 more	Copy number gain	See cases	GUncertain significance
Select item 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
Select item 155007	GRCh38/hg38 15q26.3(chr15:101045648-101457911)x3	CHSY1, LOC100507472 +29 more	Copy number gain	See cases	GLikely benign
Select item 221754	GRCh38/hg38 15q26.3(chr15:101138520-101293161)x1	CHSY1, LOC125146369 +12 more	Copy number loss	Premature ovarian failure	GBenign
Select item 147264	GRCh38/hg38 15q26.3(chr15:101170474-101474188)x3	CHSY1, LOC100507472 +20 more	Copy number gain	See cases	GBenign
Select item 3267263	NM_014918.5(CHSY1):c.2405C>T (p.Ala802Val)	CHSY1 (A802V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2057715	NM_014918.5(CHSY1):c.2403A>G (p.Thr801=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2085702	NM_014918.5(CHSY1):c.2395G>T (p.Val799Leu)	CHSY1 (V799L)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 1506765	NM_014918.5(CHSY1):c.2377A>G (p.Ser793Gly)	CHSY1 (S793G)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 1146424	NM_014918.5(CHSY1):c.2352A>G (p.Lys784=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 946798	NM_014918.5(CHSY1):c.2335G>A (p.Glu779Lys)	CHSY1 (E779K)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 672053	NM_014918.5(CHSY1):c.2322C>A (p.Thr774=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome +1 more	GBenign
Select item 2510124	NM_014918.5(CHSY1):c.2320A>T (p.Thr774Ser)	CHSY1 (T774S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 966757	NM_014918.5(CHSY1):c.2320A>G (p.Thr774Ala)	CHSY1 (T774A)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 3267258	NM_014918.5(CHSY1):c.2312A>G (p.Tyr771Cys)	CHSY1 (Y771C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2857244	NM_014918.5(CHSY1):c.2307G>A (p.Ser769=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2683332	NM_014918.5(CHSY1):c.2294G>C (p.Gly765Ala)	CHSY1 (G765A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1060429	NM_014918.5(CHSY1):c.2293G>A (p.Gly765Arg)	CHSY1 (G765R)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 1008395	NM_014918.5(CHSY1):c.2273A>G (p.Lys758Arg)	CHSY1 (K758R)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 1320335	NM_014918.5(CHSY1):c.2242C>T (p.Pro748Ser)	CHSY1 (P748S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1989582	NM_014918.5(CHSY1):c.2232C>T (p.His744=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GBenign
Select item 2136978	NM_014918.5(CHSY1):c.2219T>C (p.Val740Ala)	CHSY1 (V740A)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2152911	NM_014918.5(CHSY1):c.2202G>A (p.Thr734=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GBenign
Select item 871151	NM_014918.5(CHSY1):c.2159A>T (p.Asp720Val)	CHSY1 (D720V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871063	NM_014918.5(CHSY1):c.2120G>T (p.Gly707Val)	CHSY1 (G707V)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 1493155	NM_014918.5(CHSY1):c.2119G>A (p.Gly707Ser)	CHSY1 (G707S)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 1167689	NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln)	CHSY1 (R705Q)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome +1 more	GBenign
Select item 283194	NM_014918.5(CHSY1):c.2088G>A (p.Thr696=)	CHSY1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 733205	NM_014918.5(CHSY1):c.2040C>G (p.Ala680=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 1057024	NM_014918.5(CHSY1):c.2029A>G (p.Asn677Asp)	CHSY1 (N677D)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2981826	NM_014918.5(CHSY1):c.2022C>A (p.Pro674=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2340711	NM_014918.5(CHSY1):c.2014A>G (p.Lys672Glu)	CHSY1 (K672E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471625	NM_014918.5(CHSY1):c.1972A>G (p.Ile658Val)	CHSY1 (I658V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1585330	NM_014918.5(CHSY1):c.1957C>G (p.Gln653Glu)	CHSY1 (Q653E)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2795991	NM_014918.5(CHSY1):c.1926G>A (p.Gln642=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 1318986	NM_014918.5(CHSY1):c.1903_1905delinsCTC (p.Val635Leu)	CHSY1 (V635L)	Indel (missense variant)	not provided	GUncertain significance
Select item 672147	NM_014918.5(CHSY1):c.1905G>C (p.Val635=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome +1 more	GBenign
Select item 466171	NM_014918.5(CHSY1):c.1896C>T (p.Val632=)	CHSY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3144787	NM_014918.5(CHSY1):c.1894G>A (p.Val632Ile)	CHSY1 (V632I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 762864	NM_014918.5(CHSY1):c.1893C>T (p.Asp631=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2609628	NM_014918.5(CHSY1):c.1891G>A (p.Asp631Asn)	CHSY1 (D631N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2057702	NM_014918.5(CHSY1):c.1890C>T (p.Cys630=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 1934391	NM_014918.5(CHSY1):c.1865A>G (p.Asn622Ser)	CHSY1 (N622S)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 466170	NM_014918.5(CHSY1):c.1812G>A (p.Val604=)	CHSY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2223674	NM_014918.5(CHSY1):c.1793A>G (p.Asp598Gly)	CHSY1 (D598G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 594570	NM_014918.5(CHSY1):c.1772G>A (p.Arg591His)	CHSY1 (R591H)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome +2 more	GUncertain significance
Select item 1170430	NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr)	CHSY1 (R588T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1907843	NM_014918.5(CHSY1):c.1736A>G (p.Asp579Gly)	CHSY1 (D579G)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 788311	NM_014918.5(CHSY1):c.1725C>T (p.Asp575=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GBenign
Select item 1317159	NM_014918.5(CHSY1):c.1718A>G (p.Asn573Ser)	CHSY1 (N573S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2485165	NM_014918.5(CHSY1):c.1702G>A (p.Val568Met)	CHSY1 (V568M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 734504	NM_014918.5(CHSY1):c.1701C>T (p.Leu567=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GBenign
Select item 2308953	NM_014918.5(CHSY1):c.1693G>A (p.Val565Ile)	CHSY1 (V565I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2172908	NM_014918.5(CHSY1):c.1689G>C (p.Gln563His)	CHSY1 (Q563H)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 3144786	NM_014918.5(CHSY1):c.1675C>G (p.Leu559Val)	CHSY1 (L559V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2741422	NM_014918.5(CHSY1):c.1670C>T (p.Thr557Met)	CHSY1 (T557M)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2239439	NM_014918.5(CHSY1):c.1658A>G (p.Asn553Ser)	CHSY1 (N553S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 30714	NM_014918.5(CHSY1):c.1616C>G (p.Pro539Arg)	CHSY1 (P539R)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GPathogenic
Select item 2245221	NM_014918.5(CHSY1):c.1612A>T (p.Ile538Phe)	CHSY1 (I538F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 288227	NM_014918.5(CHSY1):c.1602A>T (p.Ile534=)	CHSY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 947829	NM_014918.5(CHSY1):c.1600A>T (p.Ile534Leu)	CHSY1 (I534L)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome +1 more	GUncertain significance
Select item 3144785	NM_014918.5(CHSY1):c.1593T>G (p.Asp531Glu)	CHSY1 (D531E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 786869	NM_014918.5(CHSY1):c.1566G>A (p.Ser522=)	CHSY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3267262	NM_014918.5(CHSY1):c.1555C>G (p.Leu519Val)	CHSY1 (L519V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782891	NM_014918.5(CHSY1):c.1555C>A (p.Leu519Ile)	CHSY1 (L519I)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 1394433	NM_014918.5(CHSY1):c.1552C>G (p.Gln518Glu)	CHSY1 (Q518E)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome	GUncertain significance
Select item 2726294	NM_014918.5(CHSY1):c.1548C>G (p.Pro516=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 787189	NM_014918.5(CHSY1):c.1518T>C (p.Phe506=)	CHSY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1135296	NM_014918.5(CHSY1):c.1494T>C (p.Asn498=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome	GLikely benign
Select item 2138992	NM_014918.5(CHSY1):c.1492A>T (p.Asn498Tyr)	CHSY1 (N498Y)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome +1 more	GUncertain significance
Select item 2484312	NM_014918.5(CHSY1):c.1484A>G (p.Lys495Arg)	CHSY1 (K495R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 466169	NM_014918.5(CHSY1):c.1473A>G (p.Gln491=)	CHSY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign

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