GSTO1[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
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 3572	NC_000010.11:g.(102444036_?)_(?_104726221)del	ACTR1A, ARL3 +135 more	Deletion	Desmoplastic/nodular medulloblastoma	GPathogenic
Select item 155304	GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1	LOC124416905, LOC124416906 +318 more	Copy number loss	See cases	GPathogenic
Select item 149250	GRCh38/hg38 10q25.1(chr10:104077161-108350985)x3	CFAP43, CFAP58 +51 more	Copy number gain	See cases	GUncertain significance
Select item 787591	NM_004832.3(GSTO1):c.20G>A (p.Arg7Lys)	GSTO1, LOC130004657 (R7K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 782535	NM_004832.3(GSTO1):c.34+5G>A	GSTO1, LOC130004657	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 777194	NM_004832.3(GSTO1):c.34+7C>A	GSTO1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3283026	NM_004832.3(GSTO1):c.59C>T (p.Pro20Leu)	GSTO1, LOC130004658 (P20L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102989	NM_004832.3(GSTO1):c.122T>C (p.Val41Ala)	GSTO1, LOC130004658 (V13A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283024	NM_004832.3(GSTO1):c.133A>G (p.Lys45Glu)	GSTO1, LOC130004658 (K17E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283027	NM_004832.3(GSTO1):c.181G>C (p.Glu61Gln)	GSTO1 (E33Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249585	NM_004832.3(GSTO1):c.269G>T (p.Cys90Phe)	GSTO1 (C62F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296376	NM_004832.3(GSTO1):c.332C>G (p.Ala111Gly)	GSTO1 (A83G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3102990	NM_004832.3(GSTO1):c.398G>A (p.Ser133Asn)	GSTO1 (S105N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3059603	NM_004832.3(GSTO1):c.419C>A (p.Ala140Asp)	GSTO1 (A112D +1 more)	Single nucleotide variant (missense variant +1 more)	GSTO1-related disorder	GBenign
Select item 2489884	NM_004832.3(GSTO1):c.442A>G (p.Lys148Glu)	GSTO1 (K120E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3102991	NM_004832.3(GSTO1):c.458T>G (p.Leu153Arg)	GSTO1 (L153R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3055930	NM_004832.3(GSTO1):c.464_465+1del	GSTO1	Microsatellite (splice donor variant +1 more)	GSTO1-related disorder	GLikely benign
Select item 715814	NM_004832.3(GSTO1):c.488C>T (p.Thr163Ile)	GSTO1 (T130I +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2543013	NM_004832.3(GSTO1):c.544G>A (p.Glu182Lys)	GSTO1 (E154K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283023	NM_004832.3(GSTO1):c.640G>A (p.Ala214Thr)	GSTO1 (A181T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283028	NM_004832.3(GSTO1):c.692A>C (p.Gln231Pro)	GSTO1 (Q198P +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	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 1527599	GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)	C10orf95, CALHM1 +57 more	Copy number loss	not specified	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 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 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

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Items: 37