7136[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 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 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 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 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 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 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 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 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 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59839	GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3	ACER2, ACO1 +539 more	Copy number gain	See cases	GPathogenic
Select item 59836	GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3	LOC130001520, LOC130001521 +410 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 144555	GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3	SLC1A1, SLC24A2 +461 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 147501	GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3	LOC126860594, LOC126860595 +355 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
Select item 59878	GRCh38/hg38 9p23-21.1(chr9:9543538-30266463)x3	ACER2, ADAMTSL1 +243 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 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	See cases	GPathogenic
Select item 148794	GRCh38/hg38 9p22.1-21.3(chr9:19564275-20636227)x3	LOC121331323, LOC121811700 +19 more	Copy number gain	See cases	GLikely benign
Select item 3295195	NM_004529.4(MLLT3):c.1655A>G (p.Lys552Arg)	MLLT3 (K552R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227413	NM_004529.4(MLLT3):c.1448G>A (p.Ser483Asn)	MLLT3 (S480N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303206	NM_004529.4(MLLT3):c.1405C>G (p.Pro469Ala)	MLLT3 (P466A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333083	NM_004529.4(MLLT3):c.1388A>G (p.His463Arg)	MLLT3 (H460R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206411	NM_004529.4(MLLT3):c.1387C>T (p.His463Tyr)	MLLT3 (H460Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206381	NM_004529.4(MLLT3):c.1321C>G (p.Arg441Gly)	MLLT3 (R438G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206346	NM_004529.4(MLLT3):c.1315G>A (p.Gly439Ser)	MLLT3 (G436S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461336	NM_004529.4(MLLT3):c.1301C>T (p.Pro434Leu)	MLLT3 (P434L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535819	NM_004529.4(MLLT3):c.1232A>G (p.His411Arg)	MLLT3 (H408R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295196	NM_004529.4(MLLT3):c.1226A>G (p.Asp409Gly)	MLLT3 (D406G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281682	NM_004529.4(MLLT3):c.1214C>A (p.Ser405Tyr)	MLLT3 (S402Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238129	NM_004529.4(MLLT3):c.1211G>A (p.Arg404Lys)	MLLT3 (R401K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 59103	GRCh38/hg38 9p21.3(chr9:20380587-20478578)x1	MIR4473, MLLT3	Copy number loss	See cases	GPathogenic
Select item 2524599	NM_004529.4(MLLT3):c.1085A>G (p.Asn362Ser)	MLLT3 (N359S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347492	NM_004529.4(MLLT3):c.1058C>T (p.Pro353Leu)	MLLT3 (P353L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315329	NM_004529.4(MLLT3):c.1052C>T (p.Thr351Met)	MLLT3 (T351M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400324	NM_004529.4(MLLT3):c.1033T>C (p.Ser345Pro)	MLLT3 (S342P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2563238	NM_004529.4(MLLT3):c.934A>G (p.Ser312Gly)	MLLT3 (S312G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386935	NM_004529.4(MLLT3):c.881C>T (p.Ser294Leu)	MLLT3 (S291L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355416	NM_004529.4(MLLT3):c.854C>T (p.Pro285Leu)	MLLT3 (P285L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206660	NM_004529.4(MLLT3):c.738A>C (p.Lys246Asn)	MLLT3 (K243N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3206629	NM_004529.4(MLLT3):c.695C>T (p.Ser232Phe)	MLLT3 (S232F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241281	NM_004529.4(MLLT3):c.683C>A (p.Ser228Tyr)	MLLT3 (S225Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659108	NM_004529.4(MLLT3):c.540C>T (p.Ser180=)	MLLT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606576	NM_004529.4(MLLT3):c.539G>C (p.Ser180Thr)	MLLT3 (S180T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489327	NM_004529.4(MLLT3):c.536G>A (p.Ser179Asn)	MLLT3 (S179N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659109	NM_004529.4(MLLT3):c.489C>T (p.Ser163=)	MLLT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 770580	NM_004529.4(MLLT3):c.468T>C (p.Ser156=)	MLLT3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659110	NM_004529.4(MLLT3):c.462C>T (p.Ser154=)	MLLT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2659111	NM_004529.4(MLLT3):c.456C>T (p.Ser152=)	MLLT3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3063068	GRCh37/hg19 9p21.3(chr9:20373651-20571020)x1	MLLT3	Copy number loss	not specified	GUncertain significance
Select item 2685343	GRCh37/hg19 9p21.3(chr9:20194314-20369546)x1	MLLT3	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 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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
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 1527512	GRCh37/hg19 9p21.3(chr9:20610950-20740733)	FOCAD, MLLT3	Copy number loss	not specified	GUncertain significance
Select item 1527511	GRCh37/hg19 9p21.3(chr9:20407662-20489380)	MLLT3	Copy number loss	not specified	GUncertain significance
Select item 1527510	GRCh37/hg19 9p21.3(chr9:20194313-20364684)	MLLT3	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 815190	GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3	ACER2, ACO1 +213 more	Copy number gain	not provided	GPathogenic
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 688950	GRCh37/hg19 9p21.3(chr9:20323068-20457595)x1	MLLT3	Copy number loss	not provided	GUncertain significance
Select item 688338	GRCh37/hg19 9p22.1-21.3(chr9:19536094-20653331)x1	MLLT3, SLC24A2	Copy number loss	not provided	GUncertain significance
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 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 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 563663	GRCh37/hg19 9p22.1-21.3(chr9:19544087-20653468)x1	SLC24A2, MLLT3	Copy number loss	not provided	GLikely benign
Select item 563660	GRCh37/hg19 9p22.1-21.3(chr9:19430459-20420946)x3	ACER2, SLC24A2 +1 more	Copy number gain	not provided	GLikely benign

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