ClinVar for Gene (Select 5887) - ClinVar

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Links from Gene

Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3352331	NM_002874.5(RAD23B):c.371C>T (p.Ala124Val)	RAD23B (A103V +2 more)	Single nucleotide variant (missense variant)	RAD23B-related disorder	GUncertain significance
Select item 3151029	NM_002874.5(RAD23B):c.702A>T (p.Glu234Asp)	RAD23B (E162D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151028	NM_002874.5(RAD23B):c.625G>T (p.Ala209Ser)	RAD23B (A137S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151027	NM_002874.5(RAD23B):c.481C>T (p.Pro161Ser)	RAD23B (P161S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151026	NM_002874.5(RAD23B):c.427G>A (p.Ala143Thr)	RAD23B (A71T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3151025	NM_002874.5(RAD23B):c.1117T>C (p.Leu373=)	RAD23B	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 3050247	NM_002874.5(RAD23B):c.453G>A (p.Lys151=)	RAD23B	Single nucleotide variant (synonymous variant)	RAD23B-related disorder	GLikely benign
Select item 3039463	NM_002874.5(RAD23B):c.804A>G (p.Thr268=)	RAD23B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3032669	NM_002874.5(RAD23B):c.651C>T (p.Asn217=)	RAD23B	Single nucleotide variant (synonymous variant)	RAD23B-related disorder	GLikely benign
Select item 2635893	NM_002874.5(RAD23B):c.451A>G (p.Lys151Glu)	RAD23B (K130E +2 more)	Single nucleotide variant (missense variant)	RAD23B-related disorder	GUncertain significance
Select item 2589781	NM_002874.5(RAD23B):c.239T>G (p.Val80Gly)	RAD23B (V59G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579281	GRCh38/hg38 9q31.1-31.3(chr9:102995214-108903040)x1	ABCA1, ACTL7A +109 more	Copy number loss	Weiss-kruszka syndrome	GPathogenic
Select item 2545180	NM_002874.5(RAD23B):c.382C>T (p.Pro128Ser)	RAD23B (P107S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529568	NM_002874.5(RAD23B):c.509A>G (p.Asp170Gly)	RAD23B (D149G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516745	NM_002874.5(RAD23B):c.793A>G (p.Thr265Ala)	RAD23B (T193A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492520	NM_002874.5(RAD23B):c.308C>T (p.Thr103Ile)	RAD23B (T82I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481805	NM_002874.5(RAD23B):c.113C>G (p.Ala38Gly)	RAD23B (A17G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2481221	NM_002874.5(RAD23B):c.655G>C (p.Asp219His)	RAD23B (D147H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478507	NM_002874.5(RAD23B):c.755C>G (p.Ser252Cys)	RAD23B (S180C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375509	NM_002874.5(RAD23B):c.503C>T (p.Ser168Leu)	RAD23B (S168L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370377	NM_002874.5(RAD23B):c.923G>A (p.Arg308Gln)	RAD23B (R287Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348636	NM_002874.5(RAD23B):c.430A>G (p.Lys144Glu)	RAD23B (K144E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293487	NM_002874.5(RAD23B):c.1010G>A (p.Gly337Asp)	RAD23B (G265D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258764	NM_002874.5(RAD23B):c.734C>T (p.Ala245Val)	RAD23B (A224V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232823	NM_002874.5(RAD23B):c.13C>G (p.Leu5Val)	LOC130002296, RAD23B (L5V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205681	NM_002874.5(RAD23B):c.748C>T (p.Pro250Ser)	RAD23B (P178S +2 more)	Single nucleotide variant (missense variant)	not specified	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 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527542	GRCh37/hg19 9q31.2-32(chr9:109265628-117650999)	ABITRAM, ACTL7A +61 more	Copy number loss	not specified	GLikely pathogenic
Select item 1527539	GRCh37/hg19 9q31.1-33.3(chr9:104604851-126253089)	ABCA1, ABITRAM +130 more	Copy number loss	not specified	GPathogenic
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1341248	GRCh37/hg19 9q31.1-31.2(chr9:102858276-110624997)x3	ABCA1, ALDOB +34 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 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 563674	GRCh37/hg19 9q31.1-31.3(chr9:106487247-114541579)x1	TXN, FKTN +44 more	Copy number loss	not provided	GPathogenic
Select item 563672	GRCh37/hg19 9q31.2-32(chr9:108664157-115356416)x3	LPAR1, EPB41L4B +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 563581	GRCh37/hg19 9q31.2(chr9:110092574-110184254)x1	RAD23B	Copy number loss	not provided	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 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 394229	GRCh37/hg19 9q31.1-31.3(chr9:103271401-113948226)x1	ABCA1, ABITRAM +48 more	Copy number loss	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 161058	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	LOC126860732, LOC126860733 +514 more	Copy number loss	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA1, ADGRD2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	LOC126860587, LOC126860588 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC130001660, LOC130001661 +3786 more	Copy number gain	See cases	GPathogenic
Select item 152170	GRCh38/hg38 9q31.1-31.2(chr9:104810184-107473921)x3	ABCA1, CT70 +56 more	Copy number gain	See cases	GUncertain significance
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC129390066, LOC129390067 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860762, LOC126860763 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	LOC124292579, LOC124292580 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 149094	GRCh38/hg38 9q31.2(chr9:106830931-107428889)x3	LINC01509, LOC121331341 +10 more	Copy number gain	See cases	GLikely benign
Select item 145648	GRCh38/hg38 9q31.1-32(chr9:103767420-112984794)x1	ABCA1, ABITRAM +310 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	DENND4C, DIPK1B +3786 more	Copy number gain	See cases	GPathogenic
Select item 59123	GRCh38/hg38 9q22.33-33.1(chr9:99349916-115767475)x1	CT70, CTNNAL1 +509 more	Copy number loss	See cases	GPathogenic
Select item 58480	GRCh38/hg38 9q31.2(chr9:106998471-107651321)x3	KLF4, LINC01509 +13 more	Copy number gain	See cases	GUncertain significance
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	ABCA2, ACER2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 32222	GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1	ABCA1, ABITRAM +514 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 64