29159[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 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 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 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 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 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 664453	NC_000009.12:g.(?_37422741)_(37785054_?)del	FBXO10, FRMPD1 +22 more	Deletion	not provided	GPathogenic
Select item 2380117	NM_014907.3(FRMPD1):c.64G>A (p.Ala22Thr)	FRMPD1 (A22T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521519	NM_014907.3(FRMPD1):c.73C>G (p.Leu25Val)	FRMPD1 (L25V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593164	NM_014907.3(FRMPD1):c.76C>T (p.Arg26Trp)	FRMPD1 (R26W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458624	NM_014907.3(FRMPD1):c.77G>A (p.Arg26Gln)	FRMPD1 (R26Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594173	NM_014907.3(FRMPD1):c.95C>T (p.Ser32Leu)	FRMPD1 (S32L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096961	NM_014907.3(FRMPD1):c.102G>T (p.Arg34=)	FRMPD1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3096962	NM_014907.3(FRMPD1):c.103G>A (p.Ala35Thr)	FRMPD1 (A35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349384	NM_014907.3(FRMPD1):c.137A>T (p.Asn46Ile)	FRMPD1 (N46I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3096966	NM_014907.3(FRMPD1):c.191C>G (p.Thr64Ser)	FRMPD1 (T64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096967	NM_014907.3(FRMPD1):c.193C>T (p.Leu65Phe)	FRMPD1 (L65F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456888	NM_014907.3(FRMPD1):c.263G>T (p.Gly88Val)	FRMPD1 (G88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309633	NM_014907.3(FRMPD1):c.274G>A (p.Gly92Ser)	FRMPD1 (G92S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531897	NM_014907.3(FRMPD1):c.314A>G (p.Asn105Ser)	FRMPD1 (N105S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096982	NM_014907.3(FRMPD1):c.392T>A (p.Val131Asp)	FRMPD1 (V131D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593766	NM_014907.3(FRMPD1):c.404C>T (p.Thr135Met)	FRMPD1 (T135M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319347	NM_014907.3(FRMPD1):c.478C>G (p.His160Asp)	FRMPD1 (H160D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096989	NM_014907.3(FRMPD1):c.650G>A (p.Arg217Gln)	FRMPD1 (R217Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458929	NM_014907.3(FRMPD1):c.658G>A (p.Glu220Lys)	FRMPD1 (E220K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1343308	NM_014907.3(FRMPD1):c.770G>A (p.Arg257His)	FRMPD1 (R257H)	Single nucleotide variant (missense variant)	Hepatoblastoma	GUncertain significance
Select item 2612344	NM_014907.3(FRMPD1):c.844T>C (p.Tyr282His)	FRMPD1 (Y282H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096990	NM_014907.3(FRMPD1):c.884G>A (p.Arg295His)	FRMPD1 (R295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096991	NM_014907.3(FRMPD1):c.947G>A (p.Arg316Gln)	FRMPD1 (R316Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279914	NM_014907.3(FRMPD1):c.1006G>C (p.Gly336Arg)	FRMPD1 (G336R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279912	NM_014907.3(FRMPD1):c.1068A>C (p.Lys356Asn)	FRMPD1 (K356N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096963	NM_014907.3(FRMPD1):c.1092G>C (p.Arg364Ser)	FRMPD1 (R364S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336166	NM_014907.3(FRMPD1):c.1147C>T (p.Arg383Cys)	FRMPD1 (R383C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555490	NM_014907.3(FRMPD1):c.1244C>T (p.Ala415Val)	FRMPD1 (A415V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096964	NM_014907.3(FRMPD1):c.1285A>G (p.Asn429Asp)	FRMPD1 (N429D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254071	NM_014907.3(FRMPD1):c.1316C>T (p.Ala439Val)	FRMPD1 (A439V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096965	NM_014907.3(FRMPD1):c.1337G>T (p.Arg446Leu)	FRMPD1 (R446L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342388	NM_014907.3(FRMPD1):c.1396G>A (p.Val466Ile)	FRMPD1 (V466I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2622388	NM_014907.3(FRMPD1):c.1445C>T (p.Ala482Val)	FRMPD1 (A482V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408286	NM_014907.3(FRMPD1):c.1447T>A (p.Cys483Ser)	FRMPD1 (C483S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621573	NM_014907.3(FRMPD1):c.1469G>T (p.Arg490Met)	FRMPD1 (R490M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659196	NM_014907.3(FRMPD1):c.1527G>A (p.Ala509=)	FRMPD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2336472	NM_014907.3(FRMPD1):c.1548A>C (p.Glu516Asp)	FRMPD1 (E516D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384962	NM_014907.3(FRMPD1):c.1603G>A (p.Val535Ile)	FRMPD1 (V535I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454722	NM_014907.3(FRMPD1):c.1612C>G (p.Pro538Ala)	FRMPD1 (P538A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206302	NM_014907.3(FRMPD1):c.1627C>T (p.Arg543Cys)	FRMPD1 (R543C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331335	NM_014907.3(FRMPD1):c.1739G>T (p.Ser580Ile)	FRMPD1 (S580I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268089	NM_014907.3(FRMPD1):c.1762G>A (p.Glu588Lys)	FRMPD1 (E588K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522834	NM_014907.3(FRMPD1):c.1766C>A (p.Ala589Glu)	FRMPD1 (A589E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233531	NM_014907.3(FRMPD1):c.1781A>C (p.Asn594Thr)	FRMPD1 (N594T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3279916	NM_014907.3(FRMPD1):c.1787A>T (p.Glu596Val)	FRMPD1 (E596V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471301	NM_014907.3(FRMPD1):c.1814C>T (p.Ser605Leu)	FRMPD1 (S605L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372220	NM_014907.3(FRMPD1):c.1877C>T (p.Thr626Ile)	FRMPD1 (T626I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357051	NM_014907.3(FRMPD1):c.1945G>A (p.Gly649Arg)	FRMPD1 (G649R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3279915	NM_014907.3(FRMPD1):c.1970G>A (p.Cys657Tyr)	FRMPD1 (C657Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208152	NM_014907.3(FRMPD1):c.2026G>A (p.Glu676Lys)	FRMPD1 (E676K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242058	NM_014907.3(FRMPD1):c.2070C>A (p.Ser690Arg)	FRMPD1 (S690R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096968	NM_014907.3(FRMPD1):c.2106C>A (p.Ser702Arg)	FRMPD1 (S702R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343997	NM_014907.3(FRMPD1):c.2110G>A (p.Ala704Thr)	FRMPD1 (A704T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2239078	NM_014907.3(FRMPD1):c.2173A>C (p.Ser725Arg)	FRMPD1 (S725R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096969	NM_014907.3(FRMPD1):c.2198C>T (p.Ala733Val)	FRMPD1 (A733V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096970	NM_014907.3(FRMPD1):c.2321C>T (p.Ala774Val)	FRMPD1 (A774V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217462	NM_014907.3(FRMPD1):c.2351C>T (p.Pro784Leu)	FRMPD1 (P784L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 790843	NM_014907.3(FRMPD1):c.2361C>T (p.Pro787=)	FRMPD1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2551938	NM_014907.3(FRMPD1):c.2434A>G (p.Ser812Gly)	FRMPD1 (S812G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659197	NM_014907.3(FRMPD1):c.2536T>G (p.Tyr846Asp)	FRMPD1 (Y846D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2312980	NM_014907.3(FRMPD1):c.2632G>T (p.Gly878Cys)	FRMPD1 (G878C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096972	NM_014907.3(FRMPD1):c.2636C>T (p.Ala879Val)	FRMPD1 (A879V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258464	NM_014907.3(FRMPD1):c.2705T>C (p.Leu902Ser)	FRMPD1 (L902S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096973	NM_014907.3(FRMPD1):c.2840G>A (p.Arg947Gln)	FRMPD1 (R947Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508388	NM_014907.3(FRMPD1):c.2842A>G (p.Ile948Val)	FRMPD1 (I948V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235371	NM_014907.3(FRMPD1):c.2849C>A (p.Pro950His)	FRMPD1 (P950H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096974	NM_014907.3(FRMPD1):c.2869G>A (p.Gly957Ser)	FRMPD1 (G957S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768294	NM_014907.3(FRMPD1):c.2882C>T (p.Ala961Val)	FRMPD1 (A961V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2464101	NM_014907.3(FRMPD1):c.2918A>G (p.Asn973Ser)	FRMPD1 (N973S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096975	NM_014907.3(FRMPD1):c.2921C>G (p.Pro974Arg)	FRMPD1 (P974R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297172	NM_014907.3(FRMPD1):c.2995A>G (p.Ile999Val)	FRMPD1 (I999V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539251	NM_014907.3(FRMPD1):c.2996T>C (p.Ile999Thr)	FRMPD1 (I999T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2547590	NM_014907.3(FRMPD1):c.3013A>G (p.Thr1005Ala)	FRMPD1 (T1005A)	Single nucleotide variant (missense variant)	not specified	GLikely benign

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