51271[geneid] - 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 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 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 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 155431	GRCh38/hg38 9p13.3(chr9:33646893-34484057)x3	DCAF12, DNAI1 +37 more	Copy number gain	See cases	GUncertain significance
Select item 146166	GRCh38/hg38 9p13.3(chr9:33853652-34183186)x3	DCAF12, LOC124252630 +7 more	Copy number gain	See cases	GLikely benign
Select item 1283232	NC_000009.12:g.34178976G>A	UBAP1	Single nucleotide variant	not provided	GBenign
Select item 2346184	NM_001171201.1(UBAP1):c.25A>T (p.Arg9Trp)	UBAP1 (R9W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3185439	NM_016525.5(UBAP1):c.-181G>T	UBAP1 (G18V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2659151	NM_016525.5(UBAP1):c.-174C>T	UBAP1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2342888	NM_016525.5(UBAP1):c.-167G>T	UBAP1 (G23C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3330507	NM_016525.5(UBAP1):c.-146G>T	UBAP1 (A30S)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3330506	NM_016525.5(UBAP1):c.-104C>G	UBAP1 (L44V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2606499	NM_016525.5(UBAP1):c.-61C>T	UBAP1 (P58L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2520325	NM_016525.5(UBAP1):c.-46C>T	UBAP1 (T63I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1248653	NM_016525.5(UBAP1):c.-7-51G>A	UBAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3337722	NM_016525.5(UBAP1):c.100G>C (p.Val34Leu)	UBAP1 (V34L +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2490352	NM_016525.5(UBAP1):c.104G>T (p.Gly35Val)	UBAP1 (G35V +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1810497	NM_016525.5(UBAP1):c.133T>G (p.Cys45Gly)	UBAP1 (C45G +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3185438	NM_016525.5(UBAP1):c.202G>C (p.Glu68Gln)	UBAP1 (E132Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3239066	NM_016525.5(UBAP1):c.226G>A (p.Glu76Lys)	UBAP1 (E112K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 689455	NM_016525.5(UBAP1):c.247_248insGTGAATTC (p.Ile83fs)	UBAP1 (I147fs +2 more)	Insertion (frameshift variant +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic
Select item 3330508	NM_016525.5(UBAP1):c.251C>T (p.Ala84Val)	UBAP1 (A120V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2609129	NM_016525.5(UBAP1):c.269T>C (p.Val90Ala)	UBAP1 (V90A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 627554	NM_016525.5(UBAP1):c.286_290dup (p.Glu97fs)	UBAP1 (E133fs +2 more)	Duplication (frameshift variant +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic
Select item 2591717	NM_016525.5(UBAP1):c.287C>T (p.Pro96Leu)	UBAP1 (P132L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1686288	NM_016525.5(UBAP1):c.293del (p.Gly98fs)	UBAP1 (G134fs +2 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic
Select item 627555	NM_016525.5(UBAP1):c.295dup (p.Asp99fs)	UBAP1 (D135fs +2 more)	Duplication (frameshift variant +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic
Select item 2690406	NM_016525.5(UBAP1):c.304A>T (p.Met102Leu)	UBAP1 (M102L +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 80, autosomal dominant	GUncertain significance
Select item 827821	NM_016525.5(UBAP1):c.316A>T (p.Lys106Ter)	UBAP1 (K106* +2 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic
Select item 2608157	NM_016525.5(UBAP1):c.326G>A (p.Ser109Asn)	UBAP1 (S173N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 627556	NM_016525.5(UBAP1):c.361dup (p.Leu121fs)	UBAP1 (L121fs +2 more)	Duplication (frameshift variant +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic
Select item 2328684	NM_016525.5(UBAP1):c.368G>A (p.Ser123Asn)	UBAP1 (S123N +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 627553	NM_016525.5(UBAP1):c.373C>T (p.Gln125Ter)	UBAP1 (Q125* +2 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic
Select item 3185440	NM_016525.5(UBAP1):c.403G>A (p.Val135Ile)	UBAP1 (V135I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 627552	NM_016525.5(UBAP1):c.426_427del (p.Lys143fs)	UBAP1 (K207fs +2 more)	Deletion (frameshift variant +1 more)	Spastic paraplegia 80, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 627551	NM_016525.5(UBAP1):c.436_437insTGAG (p.Ser146fs)	UBAP1 (S210fs +2 more)	Insertion (frameshift variant +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic
Select item 2528660	NM_016525.5(UBAP1):c.448A>T (p.Ile150Leu)	UBAP1 (I150L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2500178	NM_016525.5(UBAP1):c.476_477del (p.Asp158_Phe159insTer)	UBAP1	Deletion (nonsense +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic
Select item 2635758	NM_016525.5(UBAP1):c.505C>A (p.Leu169Met)	UBAP1 (L169M +2 more)	Single nucleotide variant (missense variant +1 more)	UBAP1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 689456	NM_016525.5(UBAP1):c.526G>T (p.Glu176Ter)	UBAP1 (E176* +2 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic
Select item 932242	NM_016525.5(UBAP1):c.535G>T (p.Glu179Ter)	UBAP1 (E243* +2 more)	Single nucleotide variant (nonsense +1 more)	Spastic paraplegia 80, autosomal dominant	GPathogenic/Likely pathogenic
Select item 3251760	NM_016525.5(UBAP1):c.707C>A (p.Thr236Asn)	UBAP1 (T236N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2611674	NM_016525.5(UBAP1):c.769A>G (p.Ile257Val)	UBAP1 (I257V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3330509	NM_016525.5(UBAP1):c.851C>T (p.Ala284Val)	UBAP1 (A284V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1050287	NM_016525.5(UBAP1):c.904C>G (p.Leu302Val)	UBAP1 (L302V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2486182	NM_016525.5(UBAP1):c.1051G>C (p.Glu351Gln)	UBAP1 (E415Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1279780	NM_016525.5(UBAP1):c.1071T>A (p.Asn357Lys)	UBAP1 (N357K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1302052	NM_016525.5(UBAP1):c.1083+4dup	UBAP1	Duplication (intron variant)	not provided	GUncertain significance
Select item 1276256	NM_016525.5(UBAP1):c.1083+86C>T	UBAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279466	NM_016525.5(UBAP1):c.1083+136G>A	UBAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2659152	NM_016525.5(UBAP1):c.1088C>A (p.Thr363Asn)	UBAP1 (T363N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2236294	NM_016525.5(UBAP1):c.1111C>G (p.Gln371Glu)	UBAP1 (Q407E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2438458	NM_016525.5(UBAP1):c.1169C>T (p.Pro390Leu)	UBAP1 (P390L +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 80, autosomal dominant	GUncertain significance
Select item 3040333	NM_016525.5(UBAP1):c.1189G>A (p.Glu397Lys)	UBAP1 (E397K +2 more)	Single nucleotide variant (missense variant +1 more)	UBAP1-related disorder	GBenign
Select item 2332318	NM_016525.5(UBAP1):c.1220A>T (p.Glu407Val)	UBAP1 (E443V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1695246	NM_016525.5(UBAP1):c.1252G>A (p.Glu418Lys)	UBAP1 (E418K +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1679276	NM_016525.5(UBAP1):c.1265A>G (p.Gln422Arg)	UBAP1 (Q422R +2 more)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia 80, autosomal dominant	GLikely pathogenic
Select item 1209937	NM_016525.5(UBAP1):c.1266+6C>T	UBAP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3185437	NM_016525.5(UBAP1):c.1307A>G (p.Lys436Arg)	UBAP1 (K500R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1357311	NM_016525.5(UBAP1):c.1333G>A (p.Glu445Lys)	UBAP1 (E445K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1700882	NM_016525.5(UBAP1):c.1364_1368delAAAAG (p.Glu455fs)	UBAP1 (E455fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 3337723	NM_016525.5(UBAP1):c.1397A>C (p.Lys466Thr)	UBAP1 (K466T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2659153	NM_016525.5(UBAP1):c.1453A>G (p.Asn485Asp)	UBAP1 (N485D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3041002	NM_016525.5(UBAP1):c.1485C>T (p.Leu495=)	UBAP1	Single nucleotide variant (synonymous variant +1 more)	UBAP1-related disorder	GLikely benign
Select item 3245304	NC_000009.11:g.(?_32453279)_(36276941_?)dup	ANKRD18B, APTX +75 more	Duplication	not provided	GUncertain significance
Select item 3245076	NC_000009.11:g.(?_33436037)_(37436779_?)del	ANKRD18B, AQP3 +66 more	Deletion	Spastic paraplegia	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 2684569	GRCh37/hg19 9p24.3-13.1(chr9:1475882-38771831)x3	CREB3, STOML2 +188 more	Copy number gain	not provided	GPathogenic
Select item 2425687	NC_000009.11:g.(?_32453279)_(35068379_?)dup	ANKRD18B, APTX +42 more	Duplication	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 +1 more	GUncertain significance
Select item 2422485	NC_000009.11:g.(?_32453279)_(37785041_?)dup	OR13J1, OR2S2 +87 more	Duplication	not provided	GUncertain significance
Select item 1808179	GRCh37/hg19 9p13.3(chr9:34247282-34986900)x4	ARID3C, C9orf24 +18 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

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