LOC105376032[gene] - ClinVar

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Search results

Items: 52

	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 144556	GRCh38/hg38 9p13.3-13.1(chr9:35623500-38815474)x3	ALDH1B1, ANKRD18A +219 more	Copy number gain	See cases	GPathogenic
Select item 1280907	NM_016734.3(PAX5):c.604+206G>A	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221158	NM_016734.3(PAX5):c.604+98C>A	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1684986	NM_016734.3(PAX5):c.604+7G>C	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2903247	NM_016734.3(PAX5):c.599A>C (p.Asp200Ala)	LOC105376032, PAX5 (D92A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2550010	NM_016734.3(PAX5):c.590G>T (p.Arg197Leu)	LOC105376032, PAX5 (R131L +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2580253	NM_016734.3(PAX5):c.583_584insCGGGGGAGCAA (p.Asn195fs)	LOC105376032, PAX5 (N129fs +2 more)	Insertion (frameshift variant +2 more)	Acute lymphoid leukemia	GLikely pathogenic
Select item 2635250	NM_016734.3(PAX5):c.571A>G (p.Ser191Gly)	LOC105376032, PAX5 (S125G +2 more)	Single nucleotide variant (missense variant +2 more)	PAX5-related disorder	GUncertain significance
Select item 88892	NM_016734.3(PAX5):c.547G>A (p.Gly183Ser)	LOC105376032, PAX5 (G183S +2 more)	Single nucleotide variant (missense variant +2 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	Grisk factor
Select item 2579061	NM_016734.3(PAX5):c.541A>G (p.Ile181Val)	LOC105376032, PAX5 (I115V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2877480	NM_016734.3(PAX5):c.534G>C (p.Ser178=)	LOC105376032, PAX5	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 2577905	NM_016734.3(PAX5):c.490G>T (p.Val164Leu)	LOC105376032, PAX5 (V164L +2 more)	Single nucleotide variant (missense variant +2 more)	Leukemia, acute lymphoblastic, susceptibility to, 3	GUncertain significance
Select item 2851227	NM_016734.3(PAX5):c.478T>C (p.Ser160Pro)	LOC105376032, PAX5 (S52P +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1285025	NM_016734.3(PAX5):c.476-3C>T	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268399	NM_016734.3(PAX5):c.476-33T>C	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242955	NM_016734.3(PAX5):c.476-302T>C	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254532	NM_016734.3(PAX5):c.475+253_475+254dup	LOC105376032, PAX5	Duplication (intron variant)	not provided	GLikely benign
Select item 1242616	NM_016734.3(PAX5):c.475+253dup	LOC105376032, PAX5	Duplication (intron variant)	not provided	GBenign
Select item 1254756	NM_016734.3(PAX5):c.475+15T>A	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 135000	NM_016734.3(PAX5):c.451G>A (p.Val151Ile)	LOC105376032, PAX5 (V151I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 3208980	NM_016734.3(PAX5):c.449C>A (p.Pro150Gln)	LOC105376032, PAX5 (P150Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 587563	NM_016734.3(PAX5):c.435G>C (p.Gln145His)	LOC105376032, PAX5 (Q145H +2 more)	Single nucleotide variant (missense variant +1 more)	Acute lymphoid leukemia	GUncertain significance
Select item 1210157	NM_016734.3(PAX5):c.419G>A (p.Arg140Gln)	LOC105376032, PAX5 (R140Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 748605	NM_016734.3(PAX5):c.411-4A>G	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871692	NM_016734.3(PAX5):c.411-12A>T	LOC105376032, PAX5	Single nucleotide variant (intron variant)	not provided	GBenign

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Items: 52