CHST15[gene] - ClinVar

Search results

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 150986	GRCh38/hg38 10q26.13(chr10:122143176-124358013)x1	ACADSB, ARMS2 +81 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 58820	GRCh38/hg38 10q26.13-26.2(chr10:122826743-126730948)x1	ABRAXAS2, ACADSB +164 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57912	GRCh38/hg38 10q26.13(chr10:123232051-124032947)x3	CHST15, CPXM2 +20 more	Copy number gain	See cases	GUncertain significance
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 2597129	NM_001270764.2(CHST15):c.1657G>A (p.Asp553Asn)	CHST15 (D553N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267227	NM_001270764.2(CHST15):c.1643C>T (p.Ala548Val)	CHST15 (A548V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267225	NM_001270764.2(CHST15):c.1592T>G (p.Ile531Ser)	CHST15 (I531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281219	NM_001270764.2(CHST15):c.1558C>A (p.Pro520Thr)	CHST15 (P520T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1262272	NM_001270764.2(CHST15):c.1347+19del	CHST15 (R456fs)	Deletion (frameshift variant +1 more)	not provided	GBenign
Select item 2518159	NM_001270764.2(CHST15):c.1337A>G (p.Asn446Ser)	CHST15 (N446S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267223	NM_001270764.2(CHST15):c.1315G>A (p.Val439Ile)	CHST15 (V439I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225139	NM_001270764.2(CHST15):c.1310C>T (p.Ala437Val)	CHST15 (A437V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144726	NM_001270764.2(CHST15):c.1307G>A (p.Arg436His)	CHST15 (R436H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144725	NM_001270764.2(CHST15):c.1262A>T (p.Glu421Val)	CHST15 (E421V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507710	NM_001270764.2(CHST15):c.1234G>A (p.Ala412Thr)	CHST15 (A412T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic
Select item 789479	NM_001270764.2(CHST15):c.1113G>A (p.Pro371=)	CHST15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2488303	NM_001270764.2(CHST15):c.1107G>T (p.Glu369Asp)	CHST15 (E369D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267224	NM_001270764.2(CHST15):c.1069G>T (p.Ala357Ser)	CHST15 (A357S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218133	NM_001270764.2(CHST15):c.965A>G (p.His322Arg)	CHST15 (H322R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373637	NM_001270764.2(CHST15):c.961G>A (p.Ala321Thr)	CHST15 (A321T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267718	NM_001270764.2(CHST15):c.923A>C (p.Tyr308Ser)	CHST15 (Y308S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610188	NM_001270764.2(CHST15):c.896G>A (p.Arg299His)	CHST15 (R299H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552930	NM_001270764.2(CHST15):c.812A>G (p.Asp271Gly)	CHST15 (D271G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559152	NM_001270764.2(CHST15):c.715C>T (p.His239Tyr)	CHST15 (H239Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718950	NM_001270764.2(CHST15):c.672C>T (p.Arg224=)	CHST15	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2569334	NM_001270764.2(CHST15):c.656T>C (p.Val219Ala)	CHST15 (V219A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144730	NM_001270764.2(CHST15):c.655G>A (p.Val219Met)	CHST15 (V219M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267226	NM_001270764.2(CHST15):c.607G>A (p.Glu203Lys)	CHST15 (E203K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463901	NM_001270764.2(CHST15):c.527T>C (p.Leu176Pro)	CHST15 (L176P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267902	NM_001270764.2(CHST15):c.497C>T (p.Thr166Met)	CHST15 (T166M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333791	NM_001270764.2(CHST15):c.401A>G (p.His134Arg)	CHST15 (H134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253528	NM_001270764.2(CHST15):c.381C>A (p.Asn127Lys)	CHST15 (N127K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258992	NM_001270764.2(CHST15):c.223A>G (p.Lys75Glu)	CHST15 (K75E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399580	NM_001270764.2(CHST15):c.217C>T (p.Arg73Cys)	CHST15 (R73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466094	NM_001270764.2(CHST15):c.175G>A (p.Glu59Lys)	CHST15 (E59K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252341	NM_001270764.2(CHST15):c.155T>A (p.Met52Lys)	CHST15 (M52K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144728	NM_001270764.2(CHST15):c.136C>T (p.Arg46Cys)	CHST15 (R46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144727	NM_001270764.2(CHST15):c.135T>A (p.Phe45Leu)	CHST15 (F45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144724	NM_001270764.2(CHST15):c.107C>T (p.Thr36Met)	CHST15 (T36M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590599	NM_001270764.2(CHST15):c.74G>A (p.Gly25Glu)	CHST15 (G25E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234534	NM_001270764.2(CHST15):c.71A>G (p.Gln24Arg)	CHST15 (Q24R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 768400	NM_001270764.2(CHST15):c.46G>A (p.Ala16Thr)	CHST15 (A16T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2513641	NM_001270764.2(CHST15):c.43G>A (p.Gly15Ser)	CHST15 (G15S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 1808596	GRCh37/hg19 10q26.13(chr10:125533464-125767436)x3	CHST15, CPXM2	Copy number gain	not provided	GUncertain significance
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 815379	GRCh37/hg19 10q26.11-26.3(chr10:119996339-135427143)x3	FGFR2, FOXI2 +95 more	Copy number gain	not provided	GPathogenic
Select item 688100	GRCh37/hg19 10q26.13-26.3(chr10:124988334-135427143)x3	ABRAXAS2, ADAM12 +58 more	Copy number gain	not provided	GPathogenic
Select item 687114	GRCh37/hg19 10q25.2-26.3(chr10:114544537-135427143)x3	ABLIM1, ABRAXAS2 +130 more	Copy number gain	not provided	GPathogenic
Select item 625657	GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not provided	GPathogenic
Select item 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 563801	GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3	ABLIM1, ABRAXAS2 +157 more	Copy number gain	not provided	GPathogenic
Select item 563799	GRCh37/hg19 10q26.11-26.3(chr10:121269222-135427143)x3	ABRAXAS2, ACADSB +86 more	Copy number gain	not provided	GPathogenic
Select item 563798	GRCh37/hg19 10q26.12-26.3(chr10:122509781-135427143)x1	ABRAXAS2, ACADSB +79 more	Copy number loss	not provided	GPathogenic
Select item 563797	GRCh37/hg19 10q26.12-26.3(chr10:123019239-135427143)x1	ABRAXAS2, ACADSB +78 more	Copy number loss	not provided	GPathogenic
Select item 563796	GRCh37/hg19 10q26.13-26.3(chr10:125450893-135427143)x1	ABRAXAS2, ADAM12 +58 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443838	GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3	ABLIM1, ABRAXAS2 +151 more	Copy number gain	See cases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395627	GRCh37/hg19 10q26.13-26.3(chr10:124147428-135370736)x1	ABRAXAS2, ACADSB +73 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic
Select item 219035	GRCh37/hg19 10q26.13-26.3(chr10:123731209-135353867)x1	ACADSB, ADAM12 +75 more	Copy number loss	See cases	GPathogenic

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Items: 95