PSIP1[gene] - 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 146394	GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1	SNORD137, SPATA6L +303 more	Copy number loss	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 146719	GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1	SMARCA2, SNAPC3 +290 more	Copy number loss	See cases	GPathogenic
Select item 144343	GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1	LOC130001522, LOC130001523 +297 more	Copy number loss	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 147703	GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1	LOC130001455, LOC130001456 +280 more	Copy number loss	See cases	GPathogenic
Select item 146356	GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1	LOC105375972, LOC105375976 +295 more	Copy number loss	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 59064	GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1	ADAMTSL1, AK3 +292 more	Copy number loss	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 152943	GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1	AK3, BRD10 +273 more	Copy number loss	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 57009	GRCh38/hg38 9p23-22.2(chr9:9661633-18034356)x1	ADAMTSL1, BNC2 +67 more	Copy number loss	See cases	GPathogenic
Select item 57336	GRCh38/hg38 9p23-22.2(chr9:11086096-17636671)x1	BNC2, BNC2-AS1 +59 more	Copy number loss	See cases	GPathogenic
Select item 59101	GRCh38/hg38 9p23-22.2(chr9:11818291-17963882)x1	ADAMTSL1, BNC2 +61 more	Copy number loss	See cases	GPathogenic
Select item 2465145	NM_033222.5(PSIP1):c.1579A>G (p.Thr527Ala)	PSIP1, SNAPC3 (T527A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2463074	NM_033222.5(PSIP1):c.1548G>C (p.Glu516Asp)	PSIP1, SNAPC3 (E516D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2613020	NM_033222.5(PSIP1):c.1546G>C (p.Glu516Gln)	PSIP1, SNAPC3 (E516Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3220330	NM_033222.5(PSIP1):c.1544A>G (p.Glu515Gly)	PSIP1, SNAPC3 (E515G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3220329	NM_033222.5(PSIP1):c.1496A>C (p.Asp499Ala)	PSIP1 (D499A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555185	NM_033222.5(PSIP1):c.1474C>A (p.His492Asn)	PSIP1 (H492N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 749768	NM_033222.5(PSIP1):c.1450G>C (p.Ala484Pro)	PSIP1 (A484P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2611239	NM_033222.5(PSIP1):c.1436A>G (p.Asn479Ser)	PSIP1 (N479S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716195	NM_033222.5(PSIP1):c.1432C>G (p.Leu478Val)	PSIP1 (L478V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 790063	NM_033222.5(PSIP1):c.1415A>T (p.Gln472Leu)	PSIP1 (Q472L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3220328	NM_033222.5(PSIP1):c.1220A>C (p.Lys407Thr)	PSIP1 (K407T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468432	NM_033222.5(PSIP1):c.1152G>T (p.Gln384His)	PSIP1 (Q384H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596108	NM_033222.5(PSIP1):c.1027A>C (p.Lys343Gln)	PSIP1 (K343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619941	NM_033222.5(PSIP1):c.995G>A (p.Gly332Glu)	PSIP1 (G332E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384823	NM_033222.5(PSIP1):c.929A>C (p.Glu310Ala)	PSIP1 (E301A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240603	NM_033222.5(PSIP1):c.843T>A (p.Asp281Glu)	PSIP1 (D281E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247830	NM_033222.5(PSIP1):c.746A>G (p.Asp249Gly)	PSIP1 (D240G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220332	NM_033222.5(PSIP1):c.742C>A (p.Pro248Thr)	PSIP1 (P248T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334494	NM_033222.5(PSIP1):c.622A>C (p.Ser208Arg)	PSIP1 (S208R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296013	NM_033222.5(PSIP1):c.604C>G (p.Gln202Glu)	PSIP1 (Q193E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356777	NM_033222.5(PSIP1):c.473A>C (p.Glu158Ala)	PSIP1 (E158A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 711507	NM_033222.5(PSIP1):c.402T>C (p.Thr134=)	PSIP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2659090	NM_033222.5(PSIP1):c.348T>G (p.Ser116Arg)	PSIP1 (S116R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2601879	NM_033222.5(PSIP1):c.307A>G (p.Asn103Asp)	PSIP1 (N103D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776764	NM_033222.5(PSIP1):c.72+8A>G	PSIP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3220331	NM_033222.5(PSIP1):c.58C>T (p.His20Tyr)	PSIP1 (H20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 744702	NM_033222.5(PSIP1):c.9C>G (p.Arg3=)	PSIP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3063080	GRCh37/hg19 9p24.3-22.3(chr9:203861-15508556)x1	AK3, BRD10 +47 more	Copy number loss	not specified	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 3063070	GRCh37/hg19 9p24.3-22.1(chr9:203861-19302836)x1	ADAMTSL1, AK3 +57 more	Copy number loss	not specified	GPathogenic
Select item 2685337	GRCh37/hg19 9p24.1-22.3(chr9:8595338-15622555)x1	CCDC171, CER1 +10 more	Copy number loss	not provided	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 2671611	Single allele	AK3, BNC2 +49 more	Deletion	not provided	GPathogenic
Select item 1808355	GRCh37/hg19 9p22.3(chr9:15241646-15504917)x3	PSIP1, SNAPC3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808310	GRCh37/hg19 9p22.3(chr9:15337857-15547347)x1	PSIP1, SNAPC3	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 1527485	GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)	AK3, BNC2 +49 more	Copy number loss	not specified	GPathogenic
Select item 1341030	GRCh37/hg19 9p22.3(chr9:15451822-15543074)x1	PSIP1, SNAPC3	Copy number loss	not provided	GUncertain significance
Select item 1047891	GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812)	PTPRD, PUM3 +52 more	Copy number loss	Trigonocephaly	GPathogenic
Select item 981213	GRCh37/hg19 9p23-22.2(chr9:13638428-17121764)x1	BNC2, CCDC171 +7 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 981212	GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1	TTC39B, TYRP1 +51 more	Copy number loss	Chromosome 9p deletion syndrome	GPathogenic
Select item 815238	GRCh37/hg19 9p22.3(chr9:15241645-15504916)x3	TTC39B, SNAPC3 +1 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 815186	GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1	LURAP1L, MIR101-2 +51 more	Copy number loss	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

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