"GeneDx"[submitter] AND "CHSY1"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 59408	GRCh38/hg38 15q26.3(chr15:100222791-101843270)x1	ADAMTS17, ALDH1A3 +84 more	Copy number loss	See cases	GPathogenic
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 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 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 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 466170	NM_014918.5(CHSY1):c.1812G>A (p.Val604=)	CHSY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
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 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 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 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 466169	NM_014918.5(CHSY1):c.1473A>G (p.Gln491=)	CHSY1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 281557	NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr)	CHSY1 (M442T)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome +2 more	GBenign/Likely benign
Select item 2501454	NM_014918.5(CHSY1):c.1303G>A (p.Gly435Ser)	CHSY1 (G435S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804696	NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome +1 more	GBenign
Select item 1316073	NM_014918.5(CHSY1):c.1229T>C (p.Met410Thr)	CHSY1 (M410T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 284529	NM_014918.5(CHSY1):c.1218C>T (p.Asp406=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome +2 more	GBenign/Likely benign
Select item 725895	NM_014918.5(CHSY1):c.1176C>T (p.Pro392=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome +1 more	GBenign/Likely benign
Select item 1316543	NM_014918.5(CHSY1):c.1103G>A (p.Arg368His)	CHSY1 (R368H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1167288	NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser)	CHSY1 (P359S)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome +1 more	GBenign
Select item 466168	NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg)	CHSY1 (K351R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1204449	NM_014918.5(CHSY1):c.817-172A>G	CHSY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287455	NM_014918.5(CHSY1):c.817-195C>G	CHSY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1321102	NM_014918.5(CHSY1):c.816+290T>C	CHSY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296414	NM_014918.5(CHSY1):c.816+261C>G	CHSY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277117	NM_014918.5(CHSY1):c.816+244C>T	CHSY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227891	NM_014918.5(CHSY1):c.816+238C>A	CHSY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260464	NM_014918.5(CHSY1):c.816+151del	CHSY1	Deletion (intron variant)	not provided	GBenign
Select item 779965	NM_014918.5(CHSY1):c.534A>G (p.Gly178=)	CHSY1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 784536	NM_014918.5(CHSY1):c.423C>T (p.Asp141=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome +1 more	GBenign/Likely benign
Select item 534523	NM_014918.5(CHSY1):c.333G>A (p.Lys111=)	CHSY1	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome +1 more	GBenign/Likely benign
Select item 1286318	NM_014918.5(CHSY1):c.321-123G>A	CHSY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178700	NM_014918.5(CHSY1):c.321-138G>A	CHSY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1219024	NM_014918.5(CHSY1):c.321-268C>T	CHSY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 145032	GRCh38/hg38 15q26.3(chr15:101240570-101468912)x3	CHSY1, LOC100507472 +17 more	Copy number gain	See cases	GBenign
Select item 1268213	NM_014918.5(CHSY1):c.320+204C>A	CHSY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203619	NM_014918.5(CHSY1):c.320+196G>A	CHSY1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266959	NM_014918.5(CHSY1):c.320+130G>T	CHSY1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238780	NM_014918.5(CHSY1):c.320+80G>T	CHSY1, LOC130058068	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 585674	NM_014918.5(CHSY1):c.303G>C (p.Arg101=)	CHSY1, LOC130058068	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1317158	NM_014918.5(CHSY1):c.218C>T (p.Pro73Leu)	CHSY1, LOC130058068 (P73L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000768	NM_014918.5(CHSY1):c.182C>T (p.Ala61Val)	CHSY1, LOC130058068 (A61V)	Single nucleotide variant (missense variant)	Temtamy preaxial brachydactyly syndrome +1 more	GUncertain significance
Select item 784620	NM_014918.5(CHSY1):c.114C>T (p.Gly38=)	CHSY1, LOC130058068	Single nucleotide variant (synonymous variant)	Temtamy preaxial brachydactyly syndrome +1 more	GBenign/Likely benign
Select item 585675	NM_014918.5(CHSY1):c.57C>T (p.Gly19=)	CHSY1, LOC130058068	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1280423	NM_014918.5(CHSY1):c.-32GGC[9]	CHSY1	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 1243961	NM_014918.5(CHSY1):c.-70C>T	CHSY1	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1223043	NM_014918.5(CHSY1):c.-197C>T	CHSY1, LOC130058069	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1273450	NM_014918.5(CHSY1):c.-233C>T	CHSY1, LOC130058069	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1280780	NC_000015.10:g.101252091_101252092dup	CHSY1	Duplication	not provided	GBenign
Select item 1260151	NC_000015.10:g.101252092del	CHSY1	Deletion	not provided	GBenign
Select item 1216512	NC_000015.10:g.101252105G>T	CHSY1	Single nucleotide variant	not provided	GLikely benign
Select item 253761	GRCh37/hg19 15q26.3(chr15:101645331-102263418)x3	TM2D3, SNRPA1 +4 more	Copy number gain	See cases	GUncertain significance
Select item 253671	GRCh37/hg19 15q26.1-26.3(chr15:92197136-102354857)x1	ALDH1A3, SNRPA1 +28 more	Copy number loss	See cases	GPathogenic
Select item 253543	GRCh37/hg19 15q26.2-26.3(chr15:98458265-102354857)x1	IGF1R, PCSK6 +19 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic

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Items: 59