RASEF[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	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 148901	GRCh38/hg38 9q21.11-21.32(chr9:68499530-83670227)x1	LOC130001938, LOC130001939 +263 more	Copy number loss	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 3151791	NM_152573.4(RASEF):c.2200A>G (p.Met734Val)	RASEF (M734V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218274	NM_152573.4(RASEF):c.2194C>T (p.Pro732Ser)	RASEF (P732S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151789	NM_152573.4(RASEF):c.2129A>G (p.Lys710Arg)	RASEF (K710R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151788	NM_152573.4(RASEF):c.1955T>C (p.Val652Ala)	RASEF (V652A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221345	NM_152573.4(RASEF):c.1943C>T (p.Pro648Leu)	RASEF (P648L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464503	NM_152573.4(RASEF):c.1939G>A (p.Val647Ile)	RASEF (V647I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303043	NM_152573.4(RASEF):c.1795G>T (p.Gly599Cys)	RASEF (G599C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151786	NM_152573.4(RASEF):c.1756G>T (p.Asp586Tyr)	RASEF (D586Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616079	NM_152573.4(RASEF):c.1752T>G (p.Ile584Met)	RASEF (I584M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151785	NM_152573.4(RASEF):c.1601A>G (p.Lys534Arg)	RASEF (K534R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151784	NM_152573.4(RASEF):c.1597G>A (p.Ala533Thr)	RASEF (A533T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479267	NM_152573.4(RASEF):c.1585G>A (p.Val529Ile)	RASEF (V529I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250109	NM_152573.4(RASEF):c.1568C>T (p.Ser523Leu)	RASEF (S523L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250108	NM_152573.4(RASEF):c.1567T>C (p.Ser523Pro)	RASEF (S523P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3033800	NM_152573.4(RASEF):c.1546A>G (p.Arg516Gly)	RASEF (R516G)	Single nucleotide variant (missense variant)	RASEF-related disorder	GLikely benign
Select item 2606257	NM_152573.4(RASEF):c.1526G>C (p.Gly509Ala)	RASEF (G509A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495271	NM_152573.4(RASEF):c.1525G>A (p.Gly509Ser)	RASEF (G509S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234346	NM_152573.4(RASEF):c.1506C>A (p.Pro502=)	RASEF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2605615	NM_152573.4(RASEF):c.1505C>G (p.Pro502Arg)	RASEF (P502R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312898	NM_152573.4(RASEF):c.1481T>G (p.Val494Gly)	RASEF (V494G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369182	NM_152573.4(RASEF):c.1453G>A (p.Asp485Asn)	RASEF (D485N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286604	NM_152573.4(RASEF):c.1399G>A (p.Val467Met)	RASEF (V467M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151783	NM_152573.4(RASEF):c.1395C>G (p.His465Gln)	RASEF (H465Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312901	NM_152573.4(RASEF):c.1381T>C (p.Phe461Leu)	RASEF (F461L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151782	NM_152573.4(RASEF):c.1366A>G (p.Lys456Glu)	RASEF (K456E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226131	NM_152573.4(RASEF):c.1273A>G (p.Asn425Asp)	RASEF (N425D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358780	NM_152573.4(RASEF):c.1241C>A (p.Ser414Tyr)	RASEF (S414Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151781	NM_152573.4(RASEF):c.1217C>G (p.Ser406Cys)	RASEF (S406C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592954	NM_152573.4(RASEF):c.1210C>T (p.Arg404Cys)	RASEF (R404C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473714	NM_152573.4(RASEF):c.1205C>T (p.Ser402Leu)	RASEF (S402L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600435	NM_152573.4(RASEF):c.1189C>G (p.Leu397Val)	RASEF (L397V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312900	NM_152573.4(RASEF):c.1103A>G (p.Asn368Ser)	RASEF (N368S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343045	NM_152573.4(RASEF):c.1097A>G (p.Lys366Arg)	RASEF (K366R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340459	NM_152573.4(RASEF):c.1088G>A (p.Ser363Asn)	RASEF (S363N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292265	NM_152573.4(RASEF):c.1058A>T (p.Asn353Ile)	RASEF (N353I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278261	NM_152573.4(RASEF):c.1058A>G (p.Asn353Ser)	RASEF (N353S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253547	NM_152573.4(RASEF):c.983A>T (p.Tyr328Phe)	RASEF (Y328F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151798	NM_152573.4(RASEF):c.980C>T (p.Ala327Val)	RASEF (A327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354041	NM_152573.4(RASEF):c.977G>A (p.Arg326Gln)	RASEF (R326Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509200	NM_152573.4(RASEF):c.970A>G (p.Ile324Val)	RASEF (I324V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241296	NM_152573.4(RASEF):c.833A>G (p.Asp278Gly)	RASEF (D278G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215962	NM_152573.4(RASEF):c.769G>A (p.Glu257Lys)	RASEF (E257K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395270	NM_152573.4(RASEF):c.710G>A (p.Arg237His)	RASEF (R237H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225964	NM_152573.4(RASEF):c.709C>T (p.Arg237Cys)	RASEF (R237C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312902	NM_152573.4(RASEF):c.703C>T (p.Leu235Phe)	RASEF (L235F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388052	NM_152573.4(RASEF):c.686A>T (p.Glu229Val)	RASEF (E229V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228867	NM_152573.4(RASEF):c.685G>C (p.Glu229Gln)	RASEF (E229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463283	NM_152573.4(RASEF):c.676C>T (p.Arg226Cys)	RASEF (R226C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151793	NM_152573.4(RASEF):c.524G>T (p.Arg175Leu)	RASEF (R175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458334	NM_152573.4(RASEF):c.524G>A (p.Arg175His)	RASEF (R175H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516992	NM_152573.4(RASEF):c.523C>T (p.Arg175Cys)	RASEF (R175C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397355	NM_152573.4(RASEF):c.428C>G (p.Pro143Arg)	RASEF (P143R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532856	NM_152573.4(RASEF):c.414A>C (p.Glu138Asp)	RASEF (E138D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312897	NM_152573.4(RASEF):c.376C>T (p.Arg126Trp)	RASEF (R126W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346705	NM_152573.4(RASEF):c.353C>G (p.Ser118Trp)	RASEF (S118W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312899	NM_152573.4(RASEF):c.296C>T (p.Thr99Ile)	RASEF (T99I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283006	NM_152573.4(RASEF):c.253C>T (p.Pro85Ser)	RASEF (P85S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151790	NM_152573.4(RASEF):c.218G>T (p.Gly73Val)	RASEF (G73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151797	NM_152573.4(RASEF):c.76G>A (p.Gly26Arg)	RASEF (G26R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151796	NM_152573.4(RASEF):c.71G>A (p.Arg24His)	RASEF (R24H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151794	NM_152573.4(RASEF):c.61G>T (p.Asp21Tyr)	RASEF (D21Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273773	NM_152573.4(RASEF):c.51C>A (p.Phe17Leu)	RASEF (F17L)	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 2685354	GRCh37/hg19 9q21.32(chr9:85384217-85847317)x1	RASEF	Copy number loss	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 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 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
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 625637	GRCh37/hg19 9q21.2-22.32(chr9:79520825-97201274)	AGTPBP1, ASPN +79 more	Copy number gain	not provided	GPathogenic
Select item 617751	Single allele	APBA1, APTX +185 more	Complex	Glioma	GLikely pathogenic
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 442489	GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3	ABHD17B, ACER2 +274 more	Copy number gain	See cases	GPathogenic
Select item 441750	GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4	ABHD17B, AGTPBP1 +74 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 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 92