9604[HGNC] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 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
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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 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 59124	GRCh38/hg38 9q33.2-33.3(chr9:120938041-123469664)x1	C5, C5-OT1 +99 more	Copy number loss	See cases	GPathogenic
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 57324	GRCh38/hg38 9q33.2-34.3(chr9:121112395-138075224)x3	ABCA2, ABL1 +1268 more	Copy number gain	See cases	GPathogenic
Select item 710745	NM_000962.4(PTGS1):c.38TGCTCC[1] (p.Leu15_Leu16del)	PTGS1	Microsatellite (inframe_deletion +1 more)	not provided	GLikely benign
Select item 3311326	NM_000962.4(PTGS1):c.61G>A (p.Val21Ile)	PTGS1 (V21I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1241842	NM_000962.4(PTGS1):c.123G>A (p.Gln41=)	PTGS1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2411310	NM_000962.4(PTGS1):c.179G>A (p.Arg60His)	PTGS1 (R60H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786578	NM_000962.4(PTGS1):c.204C>T (p.Cys68=)	PTGS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3220836	NM_000962.4(PTGS1):c.245G>A (p.Arg82Gln)	PTGS1 (R57Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311325	NM_000962.4(PTGS1):c.291G>T (p.Trp97Cys)	PTGS1 (W97C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2572654	NM_000962.4(PTGS1):c.412T>C (p.Trp138Arg)	PTGS1 (W113R +2 more)	Single nucleotide variant (missense variant +1 more)	Hemorrhage	GUncertain significance
Select item 2336653	NM_000962.4(PTGS1):c.532C>T (p.Arg178Cys)	PTGS1 (R130C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616498	NM_000962.4(PTGS1):c.568C>A (p.Pro190Thr)	PTGS1 (P142T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220837	NM_000962.4(PTGS1):c.707A>G (p.Asn236Ser)	PTGS1 (N127S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331299	NM_000962.4(PTGS1):c.716G>A (p.Arg239His)	PTGS1 (R130H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558323	NM_000962.4(PTGS1):c.719A>C (p.Gln240Pro)	PTGS1 (Q131P +3 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2349148	NM_000962.4(PTGS1):c.730C>T (p.Arg244Trp)	PTGS1 (R244W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264236	NM_000962.4(PTGS1):c.731G>A (p.Arg244Gln)	PTGS1 (R219Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 792137	NM_000962.4(PTGS1):c.762+10G>A	PTGS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2608967	NM_000962.4(PTGS1):c.769G>T (p.Asp257Tyr)	PTGS1 (D257Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659481	NM_000962.4(PTGS1):c.786G>A (p.Pro262=)	PTGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2599012	NM_000962.4(PTGS1):c.821A>G (p.Tyr274Cys)	LOC126860757, PTGS1 (Y249C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 758789	NM_000962.4(PTGS1):c.906G>A (p.Thr302=)	LOC126860757, PTGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3220838	NM_000962.4(PTGS1):c.928C>G (p.Arg310Gly)	LOC126860757, PTGS1 (R262G +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659482	NM_000962.4(PTGS1):c.960C>G (p.Pro320=)	LOC126860757, PTGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2395344	NM_000962.4(PTGS1):c.989C>T (p.Thr330Met)	LOC126860757, PTGS1 (T221M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2692148	NM_000962.4(PTGS1):c.994C>T (p.Arg332Cys)	LOC126860757, PTGS1 (R223C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 756558	NM_000962.4(PTGS1):c.1098C>T (p.Phe366=)	PTGS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383011	NM_000962.4(PTGS1):c.1118G>A (p.Arg373His)	PTGS1 (R325H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245515	NM_000962.4(PTGS1):c.1169T>C (p.Met390Thr)	PTGS1 (M342T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220830	NM_000962.4(PTGS1):c.1178C>A (p.Ser393Tyr)	PTGS1 (S284Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220831	NM_000962.4(PTGS1):c.1198G>C (p.Glu400Gln)	PTGS1 (E291Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3220832	NM_000962.4(PTGS1):c.1295G>A (p.Arg432Gln)	PTGS1 (R432Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3053416	NM_000962.4(PTGS1):c.1342G>A (p.Val448Met)	PTGS1 (V302M +5 more)	Single nucleotide variant (missense variant)	PTGS1-related disorder	GLikely benign
Select item 3220833	NM_000962.4(PTGS1):c.1372C>T (p.Arg458Trp)	PTGS1 (R312W +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343713	NM_000962.4(PTGS1):c.1396C>A (p.Arg466Ser)	PTGS1 (R357S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024886	NM_000962.4(PTGS1):c.1441G>A (p.Val481Ile)	PTGS1 (V335I +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 775276	NM_000962.4(PTGS1):c.1497G>A (p.Ala499=)	PTGS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2572133	NM_000962.4(PTGS1):c.1571T>C (p.Ile524Thr)	PTGS1 (I378T +5 more)	Single nucleotide variant (missense variant)	Hemorrhage	GUncertain significance
Select item 2366274	NM_000962.4(PTGS1):c.1654G>A (p.Glu552Lys)	PTGS1 (E406K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390332	NM_000962.4(PTGS1):c.1699G>A (p.Val567Ile)	PTGS1 (V505I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595567	NM_000962.4(PTGS1):c.1729G>A (p.Val577Ile)	PTGS1 (V515I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616790	NM_000962.4(PTGS1):c.1739G>A (p.Arg580His)	PTGS1 (R518H +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3220835	NM_000962.4(PTGS1):c.1753A>G (p.Ser585Gly)	PTGS1 (S585G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616885	NM_000962.4(PTGS1):c.1777G>A (p.Glu593Lys)	PTGS1 (E531K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063098	GRCh37/hg19 9q33.2-33.3(chr9:122755951-127551056)x1	ADGRD2, C5 +50 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 1808695	GRCh37/hg19 9q33.2-33.3(chr9:124018736-129995568)x1	ADGRD2, ANGPTL2 +59 more	Copy number loss	not provided	GPathogenic
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1527545	GRCh37/hg19 9q32-34.11(chr9:116422275-131713233)	ADGRD2, AK1 +141 more	Copy number gain	not specified	GPathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 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 1341250	GRCh37/hg19 9q33.1-33.3(chr9:120045175-127335905)x1	ADGRD2, ASTN2 +49 more	Copy number loss	not provided	GPathogenic
Select item 979875	GRCh37/hg19 9q33.2(chr9:125154228-125339689)x1	OR1J4, PTGS1 +5 more	Copy number loss	not provided	GLikely benign
Select item 815294	GRCh37/hg19 9q33.2(chr9:125105375-125616987)x3	OR1B1, OR1J1 +15 more	Copy number gain	not provided	GUncertain significance
Select item 815293	GRCh37/hg19 9q33.2-33.3(chr9:124604592-126306080)x1	CRB2, DENND1A +28 more	Copy number loss	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 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
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 394948	GRCh37/hg19 9q33.2-34.3(chr9:124642754-141146461)x3	ABCA2, ABL1 +279 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 72