ClinVar for Gene (Select 9536) - ClinVar

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Links from Gene

Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311292	NM_004878.5(PTGES):c.313G>A (p.Val105Ile)	PTGES (V105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311291	NM_004878.5(PTGES):c.41C>T (p.Pro14Leu)	PTGES (P14L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245294	NC_000009.11:g.(?_131678355)_(140095163_?)dup	HMCN2, IER5L +147 more	Duplication	not provided	GUncertain significance
Select item 3245116	NC_000009.11:g.(?_131346980)_(135942612_?)dup	ABL1, AIF1L +62 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 3245057	NC_000009.11:g.(?_130216807)_(133557056_?)dup	ASS1, AK1 +70 more	Duplication	Dystonic disorder	GUncertain significance
Select item 3220738	NM_004878.5(PTGES):c.97A>G (p.Ile33Val)	PTGES (I33V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220737	NM_004878.5(PTGES):c.445G>A (p.Ala149Thr)	PTGES (A149T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220735	NM_004878.5(PTGES):c.386C>T (p.Thr129Ile)	PTGES (T129I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220734	NM_004878.5(PTGES):c.101C>T (p.Thr34Met)	PTGES (T34M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063094	GRCh37/hg19 9q34.11-34.13(chr9:131815597-134209182)x1	ABL1, AIF1L +29 more	Copy number loss	not specified	GPathogenic
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2619576	NM_004878.5(PTGES):c.62C>T (p.Thr21Met)	PTGES (T21M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461658	NM_004878.5(PTGES):c.386C>G (p.Thr129Ser)	PTGES (T129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426262	NC_000009.11:g.(?_131087402)_(141016451_?)dup	ABCA2, ABL1 +187 more	Duplication	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	GUncertain significance
Select item 2425935	NC_000009.11:g.(?_131857676)_(135942612_?)dup	ABL1, AIF1L +45 more	Duplication	not provided	GUncertain significance
Select item 2402171	NM_004878.5(PTGES):c.382G>A (p.Val128Met)	PTGES (V128M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352715	NM_004878.5(PTGES):c.86T>C (p.Val29Ala)	PTGES (V29A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278291	NM_004878.5(PTGES):c.199C>T (p.Arg67Cys)	PTGES (R67C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808280	GRCh37/hg19 9q34.11(chr9:132449937-132807448)x3	C9orf78, FNBP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1527562	GRCh37/hg19 9q34.11(chr9:130390139-132760275)	AK1, ASB6 +62 more	Copy number loss	not specified	GPathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	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 979879	GRCh37/hg19 9q34.11(chr9:132448018-132581300)x3	TOR1B, PTGES +2 more	Copy number gain	not provided	GUncertain significance
Select item 979878	GRCh37/hg19 9q34.11(chr9:132470092-133044256)x3	PRRX2, PTGES +7 more	Copy number gain	not provided	GUncertain significance
Select item 815299	GRCh37/hg19 9q34.11(chr9:132449936-132795093)x3	FNBP1, TOR1A +5 more	Copy number gain	not provided	GUncertain significance
Select item 810441	NM_004878.5(PTGES):c.304C>T (p.His102Tyr)	PTGES (H102Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 768328	NM_004878.5(PTGES):c.183C>T (p.Ser61=)	PTGES	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734911	NM_004878.5(PTGES):c.14G>A (p.Ser5Asn)	PTGES (S5N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 719466	NM_004878.5(PTGES):c.20T>A (p.Val7Glu)	PTGES (V7E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 710270	NM_004878.5(PTGES):c.180G>A (p.Arg60=)	PTGES	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687422	GRCh37/hg19 9q34.11(chr9:132183626-133431092)x3	ASB6, ASS1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 685514	GRCh37/hg19 9q34.11(chr9:132449921-132793004)x3	C9orf78, FNBP1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 625553	GRCh37/hg19 9q34.11-34.13(chr9:131670024-134514071)	ABL1, AIF1L +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +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	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 394945	GRCh37/hg19 9q34.11(chr9:132483021-132581179)x3	PRRX2, PTGES +2 more	Copy number gain	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 148707	GRCh38/hg38 9q34.11-34.12(chr9:128839676-130912873)x3	ABL1, ASB6 +179 more	Copy number gain	See cases	GUncertain significance
Select item 145579	GRCh38/hg38 9q33.2-34.3(chr9:121073102-138179445)x3	ABCA2, ABL1 +1272 more	Copy number gain	See cases	GPathogenic
Select item 145575	GRCh38/hg38 9q34.11-34.3(chr9:129068560-138179445)x3	MED27, MIGA2 +789 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59908	GRCh38/hg38 9q34.11-34.3(chr9:129068560-136495351)x3	ABL1, ABO +536 more	Copy number gain	See cases	GPathogenic
Select item 59907	GRCh38/hg38 9q34.11(chr9:129036400-130578683)x3	ASB6, ASS1 +135 more	Copy number gain	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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59134	GRCh38/hg38 9q34.11(chr9:127874581-130421811)x1	AK1, ASB6 +264 more	Copy number loss	See cases	GPathogenic
Select item 57353	GRCh38/hg38 9q33.2-34.3(chr9:122792658-138124532)x3	LOC130003132, LOC130003133 +1210 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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 60