ClinVar for Gene (Select 123) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3307742	NM_001122.4(PLIN2):c.907G>A (p.Ala303Thr)	PLIN2 (A303T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3307741	NM_001122.4(PLIN2):c.1195A>G (p.Asn399Asp)	PLIN2 (N399D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215243	NM_001122.4(PLIN2):c.878G>A (p.Gly293Glu)	PLIN2 (G293E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215242	NM_001122.4(PLIN2):c.808G>C (p.Ala270Pro)	PLIN2 (A270P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215241	NM_001122.4(PLIN2):c.626A>T (p.Asp209Val)	PLIN2 (D209V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215240	NM_001122.4(PLIN2):c.398C>T (p.Thr133Met)	PLIN2 (T133M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215239	NM_001122.4(PLIN2):c.374G>A (p.Gly125Glu)	PLIN2 (G125E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215238	NM_001122.4(PLIN2):c.272A>C (p.Glu91Ala)	PLIN2 (E91A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215237	NM_001122.4(PLIN2):c.206T>C (p.Ile69Thr)	PLIN2 (I69T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215236	NM_001122.4(PLIN2):c.1192C>G (p.Leu398Val)	PLIN2 (L398V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215235	NM_001122.4(PLIN2):c.1165A>G (p.Met389Val)	PLIN2 (M389V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3215234	NM_001122.4(PLIN2):c.1129C>A (p.Gln377Lys)	PLIN2 (Q377K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
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 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2685342	GRCh37/hg19 9p22.2-22.1(chr9:16814127-19131921)x1	ADAMTSL1, BNC2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2560940	NM_001122.4(PLIN2):c.242C>T (p.Thr81Ile)	PLIN2 (T81I)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2542102	NM_001122.4(PLIN2):c.538C>G (p.Leu180Val)	PLIN2 (L180V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526930	NM_001122.4(PLIN2):c.992A>T (p.Asn331Ile)	PLIN2 (N331I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2491690	NM_001122.4(PLIN2):c.784T>C (p.Phe262Leu)	PLIN2 (F262L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484845	NM_001122.4(PLIN2):c.640C>G (p.Pro214Ala)	PLIN2 (P214A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387563	NM_001122.4(PLIN2):c.926G>A (p.Arg309His)	PLIN2 (R309H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336431	NM_001122.4(PLIN2):c.1289A>T (p.Gln430Leu)	PLIN2 (Q430L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331472	NM_001122.4(PLIN2):c.656G>A (p.Arg219Lys)	PLIN2 (R219K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295320	NM_001122.4(PLIN2):c.928A>G (p.Thr310Ala)	PLIN2 (T310A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279355	NM_001122.4(PLIN2):c.728A>G (p.Lys243Arg)	PLIN2 (K243R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2266752	NM_001122.4(PLIN2):c.644G>C (p.Ser215Thr)	PLIN2 (S215T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238714	NM_001122.4(PLIN2):c.53A>G (p.Asn18Ser)	PLIN2 (N18S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2203951	NM_001122.4(PLIN2):c.844T>C (p.Tyr282His)	PLIN2 (Y282H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808863	GRCh37/hg19 9p22.1(chr9:18960334-19191447)x1	HAUS6, PLIN2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1808046	GRCh37/hg19 9p22.3-21.3(chr9:15328600-20821644)x3	ACER2, ADAMTSL1 +15 more	Copy number gain	not provided	GUncertain significance
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 1707628	GRCh37/hg19 9p24.3-13.1(chr9:48827-39154913)x3	ACER2, ACO1 +199 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704647	GRCh37/hg19 9p24.3-13.3(chr9:203861-35903398)x3	ACER2, ACO1 +169 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703681	GRCh37/hg19 9p24.1-22.1(chr9:4992582-19322101)	ADAMTSL1, BNC2 +38 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 1703576	GRCh37/hg19 9p24.3-q13(chr9:203861-68342786)	ACER2, ACO1 +204 more	Copy number gain	Bradycardia	GPathogenic
Select item 1703570	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)	ACER2, ACO1 +204 more	Copy number gain	Tetrasomy 9p	GPathogenic
Select item 1527509	GRCh37/hg19 9p24.1-22.1(chr9:6788084-19213960)	ADAMTSL1, BNC2 +20 more	Copy number loss	not specified	GUncertain significance
Select item 1527495	GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670)	ACER2, ACO1 +114 more	Copy number gain	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 1527488	GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399)	SPATA31A5, SPATA31A6 +257 more	Copy number gain	not specified	GPathogenic
Select item 1527487	GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)	ACER2, ACO1 +205 more	Copy number gain	not specified	GPathogenic
Select item 1340064	GRCh37/hg19 9p22.1(chr9:18987330-19413864)x3	ACER2, DENND4C +5 more	Copy number gain	not provided	GUncertain significance
Select item 980890	GRCh37/hg19 9p22.1(chr9:19108473-19329836)x1	DENND4C, PLIN2	Copy number loss	not provided	GUncertain significance
Select item 815242	GRCh37/hg19 9p22.1(chr9:19080351-19544088)x3	PLIN2, SLC24A2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 782857	NM_001122.4(PLIN2):c.971C>T (p.Thr324Met)	PLIN2 (T324M)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 723590	NM_001122.4(PLIN2):c.493G>C (p.Gly165Arg)	PLIN2 (G165R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 687476	GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3	CER1, CHMP5 +193 more	Copy number gain	not provided	GPathogenic
Select item 687285	GRCh37/hg19 9p22.2-22.1(chr9:18214877-19289427)x3	ADAMTSL1, DENND4C +4 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 685107	GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3	CNTNAP3B, CREB3 +204 more	Copy number gain	not provided	GPathogenic
Select item 684956	GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3	CCDC171, ACER2 +59 more	Copy number gain	not provided	GPathogenic
Select item 625636	GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958)	GBA2, MPDZ +195 more	Copy number gain	not provided	GPathogenic
Select item 563687	GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3	ACER2, ACO1 +225 more	Copy number gain	not provided	GPathogenic
Select item 563686	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 563685	GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4	CNTNAP3, CNTNAP3B +204 more	Copy number gain	not provided	GPathogenic
Select item 563684	GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4	ATOSB, B4GALT1 +204 more	Copy number gain	not provided	GPathogenic
Select item 563683	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	DMAC1, DMRT1 +194 more	Copy number gain	not provided	GPathogenic
Select item 563682	GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3	DMAC1, TYRP1 +89 more	Copy number gain	not provided	GPathogenic
Select item 563681	GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3	ZDHHC21, ACER2 +61 more	Copy number gain	not provided	GPathogenic
Select item 563661	GRCh37/hg19 9p22.1-21.3(chr9:18944282-19964747)x3	RRAGA, SAXO1 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563650	GRCh37/hg19 9p22.1(chr9:18935985-19603778)x3	RRAGA, RPS6 +6 more	Copy number gain	not provided	GUncertain significance
Select item 559575	GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4	ACER2, ACO1 +201 more	Copy number gain	Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus	GLikely pathogenic
Select item 523160	GRCh37/hg19 9p23-21.2(chr9:10320113-26205565)x1	RPS6, TYRP1 +51 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 443401	GRCh37/hg19 9p22.1(chr9:18580904-19377336)x4	ADAMTSL1, DENND4C +5 more	Copy number gain	See cases	GLikely benign
Select item 443177	GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3	ACER2, ACO1 +194 more	Copy number gain	See cases	GPathogenic
Select item 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 442255	GRCh37/hg19 9p22.2-21.1(chr9:17684434-30889762)x3	ACER2, ADAMTSL1 +46 more	Copy number gain	See cases	GPathogenic
Select item 442183	GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3	ACER2, ADAMTSL1 +69 more	Copy number gain	See cases	GPathogenic
Select item 442112	GRCh37/hg19 9p22.2-13.3(chr9:17132123-35567051)x3	ACER2, ACO1 +99 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 394346	GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211)	CIMIP2B, CLTA +197 more	Copy number gain	See cases	GPathogenic
Select item 393860	GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4	ACER2, ACO1 +215 more	Copy number gain	See cases	GPathogenic
Select item 253670	GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3	ACER2, ADAMTSL1 +59 more	Copy number gain	See cases	GPathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 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
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 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 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 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 153184	GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4	LOC130001517, LOC130001518 +484 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 150819	GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3	ACER2, ADAMTSL1 +458 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 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 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 150116	GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3	ACER2, ACO1 +582 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 149484	GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3	CDKN2B, CDKN2B-AS1 +412 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic

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