ClinVar for Gene (Select 286319) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3330299	NM_001004125.3(TUSC1):c.221G>T (p.Arg74Leu)	TUSC1 (R74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330298	NM_001004125.3(TUSC1):c.61G>C (p.Ala21Pro)	TUSC1 (A21P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330297	NM_001004125.3(TUSC1):c.296G>A (p.Arg99Gln)	TUSC1 (R99Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330296	NM_001004125.3(TUSC1):c.605C>T (p.Ser202Leu)	TUSC1 (S202L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184938	NM_001004125.3(TUSC1):c.71G>A (p.Arg24Gln)	TUSC1 (R24Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184936	NM_001004125.3(TUSC1):c.547G>C (p.Gly183Arg)	TUSC1 (G183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184935	NM_001004125.3(TUSC1):c.380G>T (p.Arg127Leu)	TUSC1 (R127L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3184934	NM_001004125.3(TUSC1):c.257T>C (p.Leu86Pro)	TUSC1 (L86P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184932	NM_001004125.3(TUSC1):c.202A>G (p.Ser68Gly)	TUSC1 (S68G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184931	NM_001004125.3(TUSC1):c.199G>A (p.Ala67Thr)	TUSC1 (A67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184930	NM_001004125.3(TUSC1):c.156C>A (p.Asp52Glu)	TUSC1 (D52E)	Single nucleotide variant (missense variant)	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 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2605504	NM_001004125.3(TUSC1):c.66C>A (p.Asp22Glu)	TUSC1 (D22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599942	NM_001004125.3(TUSC1):c.598C>T (p.Arg200Trp)	TUSC1 (R200W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554595	NM_001004125.3(TUSC1):c.54C>A (p.Asp18Glu)	TUSC1 (D18E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548741	NM_001004125.3(TUSC1):c.58G>T (p.Ala20Ser)	TUSC1 (A20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537784	NM_001004125.3(TUSC1):c.422A>G (p.Asp141Gly)	TUSC1 (D141G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2525192	NM_001004125.3(TUSC1):c.136G>A (p.Gly46Ser)	TUSC1 (G46S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482970	NM_001004125.3(TUSC1):c.2T>C (p.Met1Thr)	TUSC1 (M1T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479888	NM_001004125.3(TUSC1):c.241C>G (p.Arg81Gly)	TUSC1 (R81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463930	NM_001004125.3(TUSC1):c.466G>A (p.Ala156Thr)	TUSC1 (A156T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399417	NM_001004125.3(TUSC1):c.583T>G (p.Ser195Ala)	TUSC1 (S195A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368992	NM_001004125.3(TUSC1):c.541C>T (p.Pro181Ser)	TUSC1 (P181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361583	NM_001004125.3(TUSC1):c.581A>C (p.Asp194Ala)	TUSC1 (D194A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2356728	NM_001004125.3(TUSC1):c.56G>A (p.Gly19Asp)	TUSC1 (G19D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353058	NM_001004125.3(TUSC1):c.619C>T (p.Pro207Ser)	TUSC1 (P207S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293201	NM_001004125.3(TUSC1):c.55G>T (p.Gly19Cys)	TUSC1 (G19C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266617	NM_001004125.3(TUSC1):c.65A>G (p.Asp22Gly)	TUSC1 (D22G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222218	NM_001004125.3(TUSC1):c.68G>T (p.Gly23Val)	TUSC1 (G23V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219266	NM_001004125.3(TUSC1):c.97C>G (p.Arg33Gly)	TUSC1 (R33G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809471	GRCh37/hg19 9p21.3-21.2(chr9:24204678-26068906)x1	IZUMO3, TUSC1	Copy number loss	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 1527516	GRCh37/hg19 9p21.3-21.1(chr9:22003967-30712948)	C9orf72, CAAP1 +13 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 980352	GRCh37/hg19 9p21.3-21.2(chr9:25158495-25684180)x3	TUSC1	Copy number gain	not provided	GLikely benign
Select item 980345	GRCh37/hg19 9p21.2(chr9:25656156-25863777)x1	TUSC1	Copy number loss	not provided	GLikely benign
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 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 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
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 563666	GRCh37/hg19 9p21.3-21.2(chr9:25185518-26752060)x3	TUSC1	Copy number gain	not provided	GLikely benign
Select item 563640	GRCh37/hg19 9p21.3-21.2(chr9:25308250-25845456)x3	TUSC1	Copy number gain	not provided	GLikely benign
Select item 563603	GRCh37/hg19 9p21.3-21.2(chr9:25481660-25679189)x1	TUSC1	Copy number loss	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 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 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 153470	GRCh38/hg38 9p21.3-21.2(chr9:25158722-25688114)x3	LOC126860599, TUSC1	Copy number gain	See cases	GUncertain significance
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 151162	GRCh38/hg38 9p22.1-21.1(chr9:19564275-28106622)x1	C9orf72, CAAP1 +136 more	Copy number loss	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 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
Select item 148539	GRCh38/hg38 9p21.3-21.2(chr9:24735335-25806728)x1	LINC01241, LOC126860599 +1 more	Copy number loss	See cases	GUncertain significance
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 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

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