ATE1[gene] - ClinVar

Search results

Items: 92

	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 57088	GRCh38/hg38 10q26.11-26.13(chr10:119273012-123117390)x3	FGFR2, GRK5 +119 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 59729	GRCh38/hg38 10q26.13(chr10:121507745-121870082)x3	ATE1, FGFR2 +6 more	Copy number gain	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 3059476	NM_001001976.3(ATE1):c.*8A>G	ATE1	Single nucleotide variant (3 prime UTR variant +1 more)	ATE1-related disorder	GBenign
Select item 2292863	NM_001001976.3(ATE1):c.1531G>A (p.Glu511Lys)	ATE1 (E396K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130775	NM_001001976.3(ATE1):c.1492G>T (p.Val498Phe)	ATE1 (V402F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2234357	NM_001001976.3(ATE1):c.1453T>C (p.Tyr485His)	ATE1 (Y370H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2388949	NM_001001976.3(ATE1):c.1397C>T (p.Thr466Met)	ATE1 (T351M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130773	NM_001001976.3(ATE1):c.1372G>A (p.Glu458Lys)	ATE1 (E362K +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060412	NM_001001976.3(ATE1):c.1371A>C (p.Pro457=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GBenign
Select item 2287956	NM_001001976.3(ATE1):c.1364A>G (p.Gln455Arg)	ATE1 (Q455R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379832	NM_001001976.3(ATE1):c.1352G>T (p.Cys451Phe)	ATE1 (C336F +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320295	NM_001001976.3(ATE1):c.1313T>C (p.Ile438Thr)	ATE1 (I323T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3060294	NM_001001976.3(ATE1):c.1236A>G (p.Ser412=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GBenign
Select item 3060051	NM_001001976.3(ATE1):c.1157+7T>C	ATE1	Single nucleotide variant (intron variant)	ATE1-related disorder	GBenign
Select item 2596800	NM_001001976.3(ATE1):c.1141G>A (p.Val381Ile)	ATE1 (V285I +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325621	NM_001001976.3(ATE1):c.1136T>G (p.Leu379Trp)	ATE1 (L264W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130772	NM_001001976.3(ATE1):c.1118A>G (p.Asp373Gly)	ATE1 (D258G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320275	NM_001001976.3(ATE1):c.1084T>G (p.Cys362Gly)	ATE1 (C355G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3058116	NM_001001976.3(ATE1):c.1071C>T (p.Asp357=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GLikely benign
Select item 2612524	NM_001001976.3(ATE1):c.1023C>G (p.His341Gln)	ATE1 (H341Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2334206	NM_001001976.3(ATE1):c.976G>A (p.Ala326Thr)	ATE1 (A211T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3037699	NM_001001976.3(ATE1):c.942+1004C>T	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GLikely benign
Select item 2597059	NM_001001976.3(ATE1):c.926C>T (p.Thr309Met)	ATE1 (T194M +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320286	NM_001001976.3(ATE1):c.890G>A (p.Arg297His)	ATE1 (R297H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2621793	NM_001001976.3(ATE1):c.872C>T (p.Ser291Phe)	ATE1 (S176F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2363671	NM_001001976.3(ATE1):c.845C>T (p.Ser282Leu)	ATE1 (S167L +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3320327	NM_001001976.3(ATE1):c.811G>C (p.Glu271Gln)	ATE1 (E156Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284915	NM_001001976.3(ATE1):c.800C>T (p.Ser267Leu)	ATE1 (S260L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130780	NM_001001976.3(ATE1):c.769T>G (p.Leu257Val)	ATE1 (L161V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483749	NM_001001976.3(ATE1):c.752C>G (p.Pro251Arg)	ATE1 (P136R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220042	NM_001001976.3(ATE1):c.746A>T (p.Asn249Ile)	ATE1 (N134I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528715	NM_001001976.3(ATE1):c.736G>C (p.Ala246Pro)	ATE1 (A131P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3320306	NM_001001976.3(ATE1):c.688G>C (p.Glu230Gln)	ATE1 (E134Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130779	NM_001001976.3(ATE1):c.580C>T (p.Pro194Ser)	ATE1 (P187S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130777	NM_001001976.3(ATE1):c.568A>C (p.Thr190Pro)	ATE1 (T75P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3130776	NM_001001976.3(ATE1):c.560A>G (p.Lys187Arg)	ATE1 (K72R +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362687	NM_001001976.3(ATE1):c.545C>T (p.Pro182Leu)	ATE1 (P67L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511101	NM_001001976.3(ATE1):c.458G>A (p.Ser153Asn)	ATE1 (S146N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2614114	NM_001001976.3(ATE1):c.433G>A (p.Asp145Asn)	ATE1 (D138N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3320316	NM_001001976.3(ATE1):c.430A>G (p.Ser144Gly)	ATE1 (S137G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2212363	NM_001001976.3(ATE1):c.374C>T (p.Ala125Val)	ATE1 (A10V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3036331	NM_001001976.3(ATE1):c.369T>A (p.Ala123=)	ATE1	Single nucleotide variant (synonymous variant +1 more)	ATE1-related disorder	GLikely benign
Select item 3059291	NM_001001976.3(ATE1):c.303A>G (p.Leu101=)	ATE1	Single nucleotide variant (synonymous variant +2 more)	ATE1-related disorder	GBenign
Select item 2558424	NM_001001976.3(ATE1):c.289A>G (p.Met97Val)	ATE1 (M90V +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
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 3061001	NM_001001976.3(ATE1):c.9C>T (p.Phe3=)	ATE1	Single nucleotide variant (synonymous variant +2 more)	ATE1-related disorder	GBenign
Select item 3244922	NC_000010.10:g.(?_122610933)_(124813281_?)dup	ACADSB, ARMS2 +16 more	Duplication	FGFR2-related craniosynostosis	GUncertain significance
Select item 3244863	NC_000010.10:g.(?_122842033)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	Deficiency of 2-methylbutyryl-CoA dehydrogenase	GPathogenic
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 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
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 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 2422456	NC_000010.10:g.(?_123239371)_(124813281_?)del	ACADSB, ARMS2 +15 more	Deletion	FGFR2-related craniosynostosis	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 1527606	GRCh37/hg19 10q25.3-26.13(chr10:117019650-125217066)	ACADSB, ARMS2 +54 more	Copy number loss	not specified	GPathogenic
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 1077193	Single allele	BTBD16, C10orf120 +36 more	Deletion	not provided	GLikely pathogenic
Select item 815380	GRCh37/hg19 10q26.13(chr10:123232922-124638514)x3	HTRA1, ARMS2 +10 more	Copy number gain	not provided	GUncertain significance
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 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 625556	GRCh37/hg19 10q25.3-26.13(chr10:117024753-124942806)	ACADSB, ARMS2 +54 more	Copy number loss	Distal 10q deletion syndrome	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 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
Select item 253439	GRCh37/hg19 10q26.12-26.2(chr10:122239239-128203032)x1	C10orf90, CHST15 +40 more	Copy number loss	See cases	GPathogenic

ClinVar

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Items: 92