PTGES2[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC130001537, LOC130001538 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC130002976, LOC130002977 +3784 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC130001468, LOC130001469 +3785 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	DNAJB5, DNAJB5-DT +3785 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC114827838, LOC116186936 +3785 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124252641, LOC124252642 +3785 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC114022701, LOC114022702 +3785 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3785 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC110120726, LOC110120727 +3785 more	Copy number gain	See cases	GPathogenic
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	LOC130002527, LOC130002528 +1272 more	Copy number gain	See cases	GPathogenic
Select item 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003109, LOC130003110 +1210 more	Copy number gain	See cases	GPathogenic
Select item 148721	GRCh38/hg38 9q33.3-34.11(chr9:125055865-128637946)x1	AK1, ANGPTL2 +250 more	Copy number loss	See cases	GPathogenic
Select item 59125	GRCh38/hg38 9q33.3-34.11(chr9:125993583-129682375)x1	AK1, ANGPTL2 +309 more	Copy number loss	See cases	GPathogenic
Select item 663424	NC_000009.11:g.(?_130216797)_(130953151_?)dup	LOC130002656, LOC130002657 +93 more	Duplication	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GUncertain significance
Select item 662282	NC_000009.12:g.(?_127612384)_(128566997_?)del	LOC130002653, LOC130002654 +130 more	Deletion	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome +1 more	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 59906	GRCh38/hg38 9q34.11(chr9:127919476-130079974)x3	ASB6, BBLN +239 more	Copy number gain	See cases	GPathogenic
Select item 2210048	NM_025072.7(PTGES2):c.1127C>T (p.Ala376Val)	PTGES2 (A185V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2403198	NM_025072.7(PTGES2):c.1114G>A (p.Glu372Lys)	PTGES2 (E181K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220739	NM_025072.7(PTGES2):c.1093C>T (p.Arg365Trp)	PTGES2 (R174W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240947	NM_025072.7(PTGES2):c.1070C>T (p.Thr357Met)	PTGES2 (T166M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516759	NM_025072.7(PTGES2):c.1018G>A (p.Val340Met)	PTGES2 (V149M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598165	NM_025072.7(PTGES2):c.911G>A (p.Arg304His)	PTGES2 (R113H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615529	NM_025072.7(PTGES2):c.910C>T (p.Arg304Cys)	PTGES2 (R304C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549050	NM_025072.7(PTGES2):c.907G>A (p.Val303Met)	PTGES2 (V112M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372893	NM_025072.7(PTGES2):c.889C>T (p.His297Tyr)	PTGES2 (H106Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620798	NM_025072.7(PTGES2):c.862C>T (p.Leu288Phe)	PTGES2 (L97F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2301562	NM_025072.7(PTGES2):c.851C>T (p.Ala284Val)	PTGES2 (A284V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377008	NM_025072.7(PTGES2):c.829G>T (p.Val277Leu)	PTGES2 (V86L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491851	NM_025072.7(PTGES2):c.824G>A (p.Gly275Asp)	PTGES2 (G275D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507438	NM_025072.7(PTGES2):c.811G>A (p.Gly271Arg)	PTGES2 (G80R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709943	NM_025072.7(PTGES2):c.807G>C (p.Lys269Asn)	PTGES2 (K269N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2554390	NM_025072.7(PTGES2):c.806A>G (p.Lys269Arg)	PTGES2 (K269R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463399	NM_025072.7(PTGES2):c.796C>A (p.Arg266Ser)	PTGES2 (R75S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220743	NM_025072.7(PTGES2):c.755G>A (p.Arg252His)	PTGES2 (R61H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467815	NM_025072.7(PTGES2):c.718G>A (p.Asp240Asn)	PTGES2 (D240N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395917	NM_025072.7(PTGES2):c.511G>T (p.Ala171Ser)	PTGES2 (A171S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2255646	NM_025072.7(PTGES2):c.350G>A (p.Arg117Gln)	PTGES2 (R117Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2527526	NM_025072.7(PTGES2):c.302A>G (p.Gln101Arg)	PTGES2 (Q101R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2378345	NM_025072.7(PTGES2):c.296G>A (p.Arg99His)	PTGES2 (R99H)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2364375	NM_025072.7(PTGES2):c.167C>T (p.Pro56Leu)	LOC130002690, PTGES2 (P56L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2275584	NM_025072.7(PTGES2):c.155G>T (p.Arg52Leu)	LOC130002690, PTGES2 (R52L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607470	NM_025072.7(PTGES2):c.151G>A (p.Ala51Thr)	LOC130002690, PTGES2 (A51T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363300	NM_025072.7(PTGES2):c.142G>A (p.Val48Met)	LOC130002690, PTGES2 (V48M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3220740	NM_025072.7(PTGES2):c.128G>A (p.Gly43Asp)	LOC130002690, PTGES2 (G43D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321161	NM_025072.7(PTGES2):c.74G>A (p.Arg25His)	LOC130002690, PTGES2 (R25H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283452	NM_025072.7(PTGES2):c.29C>G (p.Ala10Gly)	LOC130002690, PTGES2 (A10G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220741	NM_025072.7(PTGES2):c.26G>C (p.Arg9Pro)	LOC130002690, PTGES2 (R9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3245119	NC_000009.11:g.(?_130374683)_(131329276_?)del	AK1, BBLN +32 more	Deletion	Developmental and epileptic encephalopathy, 31 +1 more	GPathogenic
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	SH3GLB2, SLC25A25 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	ABCA1, ABCA2 +769 more	Copy number gain	not specified	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ANKS6, ANP32B +596 more	Copy number gain	See cases	GPathogenic
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	OR1L4, PTRH1 +768 more	Copy number gain	not specified	GPathogenic
Select item 1457478	NC_000009.11:g.(?_130216807)_(130953136_?)del	AK1, BBLN +22 more	Deletion	Congenital muscular dystrophy with intellectual disability and severe epilepsy	GPathogenic
Select item 1340206	GRCh37/hg19 9q33.3-34.11(chr9:128523763-132604808)x3	AK1, ANGPTL2 +75 more	Copy number gain	not provided	GPathogenic
Select item 1056169	NC_000009.11:g.(?_129376729)_(131016993_?)del	AK1, EEIG1 +33 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 984763	GRCh37/hg19 9q34.11(chr9:130412438-131423964)x1	COQ4, DNM1 +33 more	Copy number loss	Infantile epilepsy syndrome	GPathogenic
Select item 831938	NC_000009.12:g.(?_127815672)_(128541180_?)del	AK1, BBLN +22 more	Deletion	not provided	GPathogenic
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	ABCA1, ABCA2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	ABCA1, ABCA2 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ABCA1, ABCA2 +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	UBQLN1, UCK1 +771 more	Copy number gain	See cases	GPathogenic
Select item 395356	GRCh37/hg19 9q33.3-34.3(chr9:128652785-141044751)x3	ABCA2, ABL1 +228 more	Copy number gain	See cases	GPathogenic
Select item 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	OR1L8, OR1N1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ANGPTL2, ANKRD18A +771 more	Copy number gain	See cases	GPathogenic

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Items: 69