ClinVar for Gene (Select 8805) - ClinVar

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Links from Gene

Items: 82

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3045522	NM_015905.3(TRIM24):c.1254C>T (p.Ile418=)	TRIM24	Single nucleotide variant (synonymous variant)	TRIM24-related condition	GLikely benign
Select item 3026913	NM_015905.3(TRIM24):c.787T>C (p.Phe263Leu)	TRIM24 (F263L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2614290	NM_015905.3(TRIM24):c.3009C>A (p.Asn1003Lys)	TRIM24 (N969K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607402	NM_015905.3(TRIM24):c.2657G>A (p.Ser886Asn)	TRIM24 (S852N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2594896	NM_015905.3(TRIM24):c.1822A>G (p.Met608Val)	TRIM24 (M608V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2559046	NM_015905.3(TRIM24):c.376C>T (p.Arg126Cys)	TRIM24 (R126C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557895	NM_015905.3(TRIM24):c.1190C>T (p.Ser397Phe)	TRIM24 (S397F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534701	NM_015905.3(TRIM24):c.296C>G (p.Ala99Gly)	LOC129999452, TRIM24 (A99G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534700	NM_015905.3(TRIM24):c.133G>A (p.Gly45Ser)	LOC129999452, TRIM24 (G45S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530657	NM_015905.3(TRIM24):c.1159C>T (p.Arg387Trp)	TRIM24 (R387W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527702	NM_015905.3(TRIM24):c.2939A>G (p.Asn980Ser)	TRIM24 (N946S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482658	NM_015905.3(TRIM24):c.748G>A (p.Glu250Lys)	TRIM24 (E250K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2445371	NM_015905.3(TRIM24):c.2338T>A (p.Ser780Thr)	TRIM24 (S746T +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445349	NM_015905.3(TRIM24):c.2050C>T (p.Arg684Cys)	TRIM24 (R650C +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GLikely pathogenic
Select item 2445296	NM_015905.3(TRIM24):c.259C>T (p.Arg87Cys)	LOC129999452, TRIM24 (R87C)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445247	NM_015905.3(TRIM24):c.2899G>A (p.Ala967Thr)	TRIM24 (A933T +1 more)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2445236	NM_015905.3(TRIM24):c.76G>A (p.Ala26Thr)	TRIM24 (A26T)	Single nucleotide variant (missense variant)	Ovarian cancer	GBenign
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 2401832	NM_015905.3(TRIM24):c.341G>T (p.Gly114Val)	LOC129999452, TRIM24 (G114V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384345	NM_015905.3(TRIM24):c.55G>C (p.Ala19Pro)	LOC129999451, TRIM24 (A19P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384083	NM_015905.3(TRIM24):c.1376T>A (p.Phe459Tyr)	TRIM24 (F459Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382733	NM_015905.3(TRIM24):c.1208C>T (p.Thr403Ile)	TRIM24 (T403I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382082	NM_015905.3(TRIM24):c.290G>C (p.Gly97Ala)	LOC129999452, TRIM24 (G97A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360429	NM_015905.3(TRIM24):c.44C>T (p.Ala15Val)	LOC129999451, TRIM24 (A15V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354409	NM_015905.3(TRIM24):c.3128T>C (p.Ile1043Thr)	TRIM24 (I1009T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331277	NM_015905.3(TRIM24):c.1807G>T (p.Ala603Ser)	TRIM24 (A603S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327325	NM_015905.3(TRIM24):c.1960T>C (p.Ser654Pro)	TRIM24 (S620P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326628	NM_015905.3(TRIM24):c.257A>T (p.Gln86Leu)	LOC129999452, TRIM24 (Q86L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320736	NM_015905.3(TRIM24):c.2192A>C (p.Glu731Ala)	TRIM24 (E731A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273786	NM_015905.3(TRIM24):c.479A>C (p.Asn160Thr)	TRIM24 (N160T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273303	NM_015905.3(TRIM24):c.2810A>C (p.Lys937Thr)	TRIM24 (K903T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2258638	NM_015905.3(TRIM24):c.1544G>A (p.Arg515His)	TRIM24 (R481H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236210	NM_015905.3(TRIM24):c.1078A>G (p.Met360Val)	TRIM24 (M360V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214716	NM_015905.3(TRIM24):c.193A>T (p.Ser65Cys)	LOC129999452, TRIM24 (S65C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2211337	NM_015905.3(TRIM24):c.1750A>G (p.Thr584Ala)	TRIM24 (T584A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527395	GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)	CHCHD3, CHRM2 +88 more	Copy number loss	not specified	GPathogenic
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ZC3HAV1, ZC3HAV1L +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1340568	GRCh37/hg19 7q33-34(chr7:137633442-138213453)x3	AKR1D1, CREB3L2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	ADCK2, AGBL3 +105 more	Copy number loss	Small face +7 more	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815042	GRCh37/hg19 7q33-34(chr7:135677938-139810886)x1	TRIM24, PARP12 +20 more	Copy number loss	not provided	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 774456	NM_015905.3(TRIM24):c.2616C>G (p.Asp872Glu)	TRIM24 (D838E +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 685702	GRCh37/hg19 7q33-34(chr7:137675423-139084024)x1	AKR1D1, ATP6V0A4 +12 more	Copy number loss	not provided	GUncertain significance
Select item 685350	GRCh37/hg19 7q33-34(chr7:137848980-138897699)x3	ATP6V0A4, KIAA1549 +6 more	Copy number gain	not provided	GUncertain significance
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 617479	Single allele	MIR183, PARP12 +74 more	Complex	Renal transitional cell carcinoma	GLikely pathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 443705	GRCh37/hg19 7q33-34(chr7:137434852-140349546)x3	AKR1D1, ATP6V0A4 +22 more	Copy number gain	See cases	GUncertain significance
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	ABCB8, ABCF2 +166 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395363	GRCh37/hg19 7q32.3-34(chr7:131642114-139107211)x1	AGBL3, AKR1B1 +38 more	Copy number loss	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	LOC123956263, LOC126860190 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 60298	GRCh38/hg38 7q33-34(chr7:137741740-139688885)x1	AKR1D1, ATP6V0A4 +88 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 82