ClinVar for Gene (Select 56254) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314828	NM_019592.7(RNF20):c.2462A>G (p.Lys821Arg)	RNF20 (K821R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314827	NM_019592.7(RNF20):c.2555A>T (p.Glu852Val)	RNF20 (E852V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314826	NM_019592.7(RNF20):c.2612C>T (p.Thr871Ile)	RNF20 (T871I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314825	NM_019592.7(RNF20):c.1601C>G (p.Ala534Gly)	RNF20 (A534G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155261	NM_019592.7(RNF20):c.883G>T (p.Val295Phe)	RNF20 (V295F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155260	NM_019592.7(RNF20):c.806C>T (p.Ser269Phe)	RNF20 (S269F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155259	NM_019592.7(RNF20):c.730C>T (p.Arg244Cys)	RNF20 (R244C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155258	NM_019592.7(RNF20):c.647A>C (p.Glu216Ala)	RNF20 (E216A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155257	NM_019592.7(RNF20):c.305A>G (p.Glu102Gly)	RNF20 (E102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155256	NM_019592.7(RNF20):c.222G>C (p.Glu74Asp)	RNF20 (E74D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155255	NM_019592.7(RNF20):c.2066A>C (p.Lys689Thr)	RNF20 (K689T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155254	NM_019592.7(RNF20):c.2044A>C (p.Lys682Gln)	RNF20 (K682Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155253	NM_019592.7(RNF20):c.1577C>T (p.Thr526Ile)	RNF20 (T526I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3063058	GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1	ABCA1, ALDOB +34 more	Copy number loss	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2659353	NM_019592.7(RNF20):c.1695T>C (p.Asp565=)	RNF20	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613486	NM_019592.7(RNF20):c.1096G>A (p.Glu366Lys)	RNF20 (E366K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608444	NM_019592.7(RNF20):c.2068A>G (p.Lys690Glu)	RNF20 (K690E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603991	NM_019592.7(RNF20):c.1304G>C (p.Arg435Thr)	RNF20 (R435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2566508	NM_019592.7(RNF20):c.1690C>G (p.Arg564Gly)	RNF20 (R564G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545314	NM_019592.7(RNF20):c.1601C>T (p.Ala534Val)	RNF20 (A534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517861	NM_019592.7(RNF20):c.752C>G (p.Ser251Cys)	RNF20 (S251C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491496	NM_019592.7(RNF20):c.1009G>C (p.Glu337Gln)	RNF20 (E337Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491153	NM_019592.7(RNF20):c.1604A>G (p.Glu535Gly)	RNF20 (E535G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489741	NM_019592.7(RNF20):c.2417A>G (p.Glu806Gly)	RNF20 (E806G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471204	NM_019592.7(RNF20):c.548G>A (p.Arg183Gln)	RNF20 (R183Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468145	NM_019592.7(RNF20):c.1123G>A (p.Val375Ile)	RNF20 (V375I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455008	NM_019592.7(RNF20):c.1528A>G (p.Lys510Glu)	RNF20 (K510E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422164	NC_000009.11:g.(?_104124710)_(104500261_?)del	ALDOB, BAAT +6 more	Deletion	Hereditary fructosuria	GPathogenic
Select item 2408125	NM_019592.7(RNF20):c.1111G>T (p.Val371Leu)	RNF20 (V371L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408106	NM_019592.7(RNF20):c.706A>C (p.Thr236Pro)	RNF20 (T236P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397500	NM_019592.7(RNF20):c.41G>C (p.Gly14Ala)	RNF20 (G14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390191	NM_019592.7(RNF20):c.1049G>A (p.Arg350Gln)	RNF20 (R350Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373855	NM_019592.7(RNF20):c.1691G>C (p.Arg564Pro)	RNF20 (R564P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367356	NM_019592.7(RNF20):c.310A>G (p.Ile104Val)	RNF20 (I104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365301	NM_019592.7(RNF20):c.1694A>G (p.Asp565Gly)	RNF20 (D565G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345814	NM_019592.7(RNF20):c.544C>T (p.Arg182Cys)	RNF20 (R182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302704	NM_019592.7(RNF20):c.2900A>C (p.Asn967Thr)	RNF20 (N967T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297604	NM_019592.7(RNF20):c.152T>G (p.Leu51Arg)	RNF20 (L51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274752	NM_019592.7(RNF20):c.601C>T (p.Leu201Phe)	RNF20 (L201F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272928	NM_019592.7(RNF20):c.1331C>T (p.Thr444Ile)	RNF20 (T444I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256294	NM_019592.7(RNF20):c.1586C>T (p.Pro529Leu)	RNF20 (P529L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238724	NM_019592.7(RNF20):c.2642G>A (p.Arg881Gln)	RNF20 (R881Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226809	NM_019592.7(RNF20):c.1856G>A (p.Arg619Gln)	RNF20 (R619Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208982	NM_019592.7(RNF20):c.38C>T (p.Pro13Leu)	RNF20 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208079	NM_019592.7(RNF20):c.2447T>C (p.Ile816Thr)	RNF20 (I816T)	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 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 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	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 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 979862	GRCh37/hg19 9q31.1(chr9:103872812-104974365)x3	GRIN3A, ALDOB +6 more	Copy number gain	not provided	GUncertain significance
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 780821	NM_019592.7(RNF20):c.1881A>G (p.Lys627=)	RNF20	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 750679	NM_019592.7(RNF20):c.2752-9T>C	RNF20	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 743589	NM_019592.7(RNF20):c.676G>A (p.Ala226Thr)	RNF20 (A226T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 716921	NM_019592.7(RNF20):c.2539C>T (p.Leu847Phe)	RNF20 (L847F)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 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	LOC124210612, LOC124210613 +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 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
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	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 149230	GRCh38/hg38 9q22.33-31.3(chr9:99024205-109947890)x1	ABCA1, ABITRAM +253 more	Copy number loss	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	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)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 135634	NM_019592.7(RNF20):c.247C>T (p.Gln83Ter)	RNF20 (Q83*)	Single nucleotide variant (nonsense)	not provided	Gnot provided
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	LOC110121197, LOC110121234 +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 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +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: 85