ClinVar for Gene (Select 51575) - ClinVar

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Links from Gene

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3276450	NM_001276380.2(ESF1):c.926T>C (p.Ile309Thr)	ESF1 (I309T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276449	NM_001276380.2(ESF1):c.1095G>T (p.Leu365Phe)	ESF1 (L365F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276448	NM_001276380.2(ESF1):c.568T>C (p.Ser190Pro)	ESF1 (S190P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276447	NM_001276380.2(ESF1):c.1024C>T (p.Arg342Cys)	ESF1 (R342C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090451	NM_001276380.2(ESF1):c.907G>A (p.Ala303Thr)	ESF1 (A303T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090450	NM_001276380.2(ESF1):c.808G>A (p.Asp270Asn)	ESF1 (D270N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090449	NM_001276380.2(ESF1):c.710A>T (p.Asp237Val)	ESF1 (D237V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090448	NM_001276380.2(ESF1):c.456A>G (p.Ile152Met)	ESF1 (I152M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090447	NM_001276380.2(ESF1):c.376G>A (p.Glu126Lys)	ESF1 (E126K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3090446	NM_001276380.2(ESF1):c.358G>A (p.Ala120Thr)	ESF1 (A120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090444	NM_001276380.2(ESF1):c.2399A>G (p.Lys800Arg)	ESF1 (K800R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090442	NM_001276380.2(ESF1):c.209G>A (p.Arg70His)	ESF1 (R70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090441	NM_001276380.2(ESF1):c.1914G>T (p.Lys638Asn)	ESF1 (K638N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090440	NM_001276380.2(ESF1):c.1802T>C (p.Met601Thr)	ESF1 (M601T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3090438	NM_001276380.2(ESF1):c.1465T>A (p.Leu489Ile)	ESF1 (L489I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2616359	NM_001276380.2(ESF1):c.2252A>G (p.Asp751Gly)	ESF1 (D751G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615852	NM_001276380.2(ESF1):c.332T>C (p.Val111Ala)	ESF1 (V111A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2547214	NM_001276380.2(ESF1):c.1853T>C (p.Met618Thr)	ESF1 (M618T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540555	NM_001276380.2(ESF1):c.2313C>G (p.Phe771Leu)	ESF1 (F771L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539631	NM_001276380.2(ESF1):c.1891C>T (p.Pro631Ser)	ESF1 (P631S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536624	NM_001276380.2(ESF1):c.292A>C (p.Lys98Gln)	ESF1 (K98Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530565	NM_001276380.2(ESF1):c.969T>G (p.Phe323Leu)	ESF1 (F323L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2517339	NM_001276380.2(ESF1):c.1025G>A (p.Arg342His)	ESF1 (R342H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512188	NM_001276380.2(ESF1):c.33G>C (p.Gln11His)	ESF1 (Q11H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510173	NM_001276380.2(ESF1):c.1611A>C (p.Gln537His)	ESF1 (Q537H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476004	NM_001276380.2(ESF1):c.1547A>T (p.His516Leu)	ESF1 (H516L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471745	NM_001276380.2(ESF1):c.1720G>C (p.Asp574His)	ESF1 (D574H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468988	NM_001276380.2(ESF1):c.1667G>A (p.Gly556Asp)	ESF1 (G556D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382274	NM_001276380.2(ESF1):c.25A>G (p.Ser9Gly)	ESF1 (S9G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370631	NM_001276380.2(ESF1):c.2404C>G (p.Gln802Glu)	ESF1 (Q802E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369894	NM_001276380.2(ESF1):c.2054C>T (p.Ser685Leu)	ESF1 (S685L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361750	NM_001276380.2(ESF1):c.217G>A (p.Asp73Asn)	ESF1 (D73N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338342	NM_001276380.2(ESF1):c.2452G>A (p.Glu818Lys)	ESF1 (E818K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311672	NM_001276380.2(ESF1):c.1046G>A (p.Arg349Gln)	ESF1 (R349Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303331	NM_001276380.2(ESF1):c.493A>G (p.Asn165Asp)	ESF1 (N165D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297438	NM_001276380.2(ESF1):c.34C>T (p.Arg12Trp)	ESF1 (R12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289475	NM_001276380.2(ESF1):c.505A>G (p.Lys169Glu)	ESF1 (K169E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289346	NM_001276380.2(ESF1):c.733A>C (p.Ser245Arg)	ESF1 (S245R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288461	NM_001276380.2(ESF1):c.709G>A (p.Asp237Asn)	ESF1 (D237N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284618	NM_001276380.2(ESF1):c.1600A>G (p.Met534Val)	ESF1 (M534V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278131	NM_001276380.2(ESF1):c.1951G>T (p.Ala651Ser)	ESF1 (A651S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257140	NM_001276380.2(ESF1):c.1032T>G (p.Asp344Glu)	ESF1 (D344E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254854	NM_001276380.2(ESF1):c.663C>G (p.Asp221Glu)	ESF1 (D221E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236717	NM_001276380.2(ESF1):c.834G>C (p.Glu278Asp)	ESF1 (E278D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224365	NM_001276380.2(ESF1):c.2503A>G (p.Ile835Val)	ESF1 (I835V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2211102	NM_001276380.2(ESF1):c.1043G>A (p.Arg348His)	ESF1 (R348H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2206759	NM_001276380.2(ESF1):c.1144G>A (p.Val382Ile)	ESF1 (V382I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1328443	GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3	SEC23B, SPTLC3 +28 more	Copy number gain	not provided	GUncertain significance
Select item 1220199	NC_000020.11:g.13784845C>G	ESF1, NDUFAF5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1219886	NC_000020.11:g.13784708G>T	ESF1, NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219880	NC_000020.11:g.13784713A>G	ESF1, NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1193183	NC_000020.11:g.13784803T>C	ESF1, NDUFAF5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 979568	GRCh37/hg19 20p12.1(chr20:13737300-13804101)x1	ESF1, NDUFAF5	Copy number loss	not provided	GUncertain significance
Select item 979564	GRCh37/hg19 20p12.1(chr20:13432028-13987668)x3	MACROD2, TASP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816118	GRCh37/hg19 20p12.1(chr20:13390634-13990967)x3	ESF1, NDUFAF5 +3 more	Copy number gain	not provided	GUncertain significance
Select item 816114	GRCh37/hg19 20p12.3-11.22(chr20:8571696-22088650)x1	ANKEF1, BANF2 +49 more	Copy number loss	not provided	GPathogenic
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 789354	NM_001276380.2(ESF1):c.2519_2520del (p.Glu840fs)	ESF1 (E840fs)	Microsatellite (frameshift variant)	not provided	GLikely benign
Select item 685793	GRCh37/hg19 20p12.1(chr20:13552553-13963728)x3	ESF1, NDUFAF5 +2 more	Copy number gain	not provided	GUncertain significance
Select item 669696	NM_024120.4(NDUFAF5):c.-208C>T	ESF1, NDUFAF5	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 625735	GRCh37/hg19 20p12.2-11.23(chr20:11716825-19331055)	BANF2, BFSP1 +29 more	Copy number gain	not provided	GPathogenic
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 564644	GRCh37/hg19 20p12.3-12.1(chr20:7604120-14739025)x3	BTBD3, TMX4 +18 more	Copy number gain	not provided	GPathogenic
Select item 564622	GRCh37/hg19 20p12.1(chr20:13581396-13909450)x3	NDUFAF5, SEL1L2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 441645	GRCh37/hg19 20p12.1(chr20:13390634-15317978)x1	ESF1, FLRT3 +4 more	Copy number loss	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	ESF1, FAM110A +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 221544	GRCh37/hg19 20p12.1(chr20:13714429-13789519)x3	ESF1, NDUFAF5	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	ADAM33, ADISSP +571 more	Copy number gain	See cases	GPathogenic
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 149958	GRCh38/hg38 20p12.1(chr20:13441077-14062969)x4	ESF1, LOC113939992 +8 more	Copy number gain	See cases	GUncertain significance
Select item 148981	GRCh38/hg38 20p12.2-12.1(chr20:9290612-14648536)x3	ANKEF1, BTBD3 +87 more	Copy number gain	See cases	GUncertain significance
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 146068	GRCh38/hg38 20p12.1(chr20:12130588-14687477)x3	ESF1, FLRT3 +26 more	Copy number gain	See cases	GUncertain significance
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	LOC129456123, LOC130065248 +833 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	ADAM33, ADISSP +579 more	Copy number gain	See cases	GPathogenic
Select item 58968	GRCh38/hg38 20p12.1(chr20:13599877-13834151)x3	ESF1, LOC113939992 +5 more	Copy number gain	See cases	GUncertain significance
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	FASTKD5, FERMT1 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	LOC130065324, LOC130065325 +581 more	Copy number gain	See cases	GPathogenic

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Items: 85