ClinVar for Gene (Select 80028) - ClinVar

Links from Gene

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338456	GRCh37/hg19 7p22.1(chr7:5521357-5569119)x1	ACTB, FBXL18	Copy number loss	Dystonia 22, juvenile-onset	GLikely pathogenic
Select item 3278050	NM_024963.6(FBXL18):c.98A>C (p.Asp33Ala)	FBXL18 (D33A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3278049	NM_024963.6(FBXL18):c.49C>T (p.Pro17Ser)	FBXL18 (P17S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3278048	NM_024963.6(FBXL18):c.680A>G (p.Tyr227Cys)	FBXL18 (Y227C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278047	NM_024963.6(FBXL18):c.638T>C (p.Leu213Pro)	FBXL18 (L113P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278046	NM_024963.6(FBXL18):c.536C>A (p.Thr179Lys)	FBXL18 (T79K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3278045	NM_024963.6(FBXL18):c.1844C>T (p.Ser615Leu)	FBXL18 (S515L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245749	NC_000007.13:g.(?_4815347)_(5792630_?)del	ACTB, AP5Z1 +11 more	Deletion	Baraitser-Winter syndrome 1	GUncertain significance
Select item 3093515	NM_024963.6(FBXL18):c.917C>T (p.Ser306Phe)	FBXL18 (S206F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093514	NM_024963.6(FBXL18):c.704C>G (p.Ala235Gly)	FBXL18 (A235G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093513	NM_024963.6(FBXL18):c.674C>G (p.Pro225Arg)	FBXL18 (P225R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093512	NM_024963.6(FBXL18):c.415A>G (p.Met139Val)	FBXL18 (M39V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3093511	NM_024963.6(FBXL18):c.368A>G (p.Lys123Arg)	FBXL18 (K23R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093510	NM_024963.6(FBXL18):c.1840C>G (p.Pro614Ala)	FBXL18 (P614A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093509	NM_024963.6(FBXL18):c.137C>T (p.Thr46Ile)	FBXL18 (T46I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3093508	NM_024963.6(FBXL18):c.1346G>T (p.Gly449Val)	FBXL18 (G449V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093507	NM_024963.6(FBXL18):c.1314G>T (p.Gln438His)	FBXL18 (Q338H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093506	NM_024963.6(FBXL18):c.1097C>T (p.Ala366Val)	FBXL18 (A266V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3093505	NM_024963.6(FBXL18):c.1091G>T (p.Arg364Leu)	FBXL18 (R364L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062987	GRCh37/hg19 7p22.1(chr7:5376510-5934779)x3	ACTB, FBXL18 +4 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684470	GRCh37/hg19 7p22.3-22.1(chr7:43361-5965440)x3	RNF216, SDK1 +48 more	Copy number gain	not provided	GPathogenic
Select item 2684469	GRCh37/hg19 7p22.3-21.3(chr7:43361-8890475)x3	PSMG3, RAC1 +73 more	Copy number gain	not provided	GPathogenic
Select item 2657285	NM_024963.6(FBXL18):c.1074C>A (p.Ser358=)	FBXL18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657284	NM_024963.6(FBXL18):c.1206C>T (p.Gly402=)	FBXL18	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2623872	NM_024963.6(FBXL18):c.34G>A (p.Asp12Asn)	FBXL18 (D12N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610140	NM_024963.6(FBXL18):c.820G>C (p.Ala274Pro)	FBXL18 (A174P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595395	NM_024963.6(FBXL18):c.871G>A (p.Val291Met)	FBXL18 (V291M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558007	NM_024963.6(FBXL18):c.25T>C (p.Ser9Pro)	FBXL18 (S9P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554433	NM_024963.6(FBXL18):c.1104C>A (p.Asp368Glu)	FBXL18 (D268E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552620	NM_024963.6(FBXL18):c.2146C>A (p.Leu716Met)	FBXL18 (L716M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514704	NM_024963.6(FBXL18):c.970T>A (p.Cys324Ser)	FBXL18 (C324S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2491936	NM_024963.6(FBXL18):c.1684T>C (p.Ser562Pro)	FBXL18 (S562P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488842	NM_024963.6(FBXL18):c.848T>A (p.Leu283Gln)	FBXL18 (L183Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480479	NM_024963.6(FBXL18):c.2026A>G (p.Asn676Asp)	FBXL18 (N676D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2470988	NM_024963.6(FBXL18):c.178G>C (p.Ala60Pro)	FBXL18 (A60P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409174	NM_024963.6(FBXL18):c.360C>G (p.Ser120Arg)	FBXL18 (S120R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396913	NM_024963.6(FBXL18):c.1060G>C (p.Val354Leu)	FBXL18 (V354L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371892	NM_024963.6(FBXL18):c.2098G>C (p.Asp700His)	FBXL18 (D700H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332374	NM_024963.6(FBXL18):c.257G>T (p.Arg86Met)	FBXL18 (R86M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332373	NM_024963.6(FBXL18):c.1610C>T (p.Thr537Met)	FBXL18 (T437M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316285	NM_024963.6(FBXL18):c.1032C>G (p.Ser344Arg)	FBXL18 (S344R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294354	NM_024963.6(FBXL18):c.1605C>G (p.His535Gln)	FBXL18 (H435Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276354	NM_024963.6(FBXL18):c.1145G>C (p.Cys382Ser)	FBXL18 (C382S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264604	NM_024963.6(FBXL18):c.2080G>A (p.Val694Ile)	FBXL18 (V694I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262281	NM_024963.6(FBXL18):c.195C>G (p.Asp65Glu)	FBXL18 (D65E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262061	NM_024963.6(FBXL18):c.578G>T (p.Ser193Ile)	FBXL18 (S193I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246535	NM_024963.6(FBXL18):c.1570G>T (p.Val524Leu)	FBXL18 (V424L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232307	NM_024963.6(FBXL18):c.1113C>G (p.Asp371Glu)	FBXL18 (D371E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232232	NM_024963.6(FBXL18):c.1793C>G (p.Pro598Arg)	FBXL18 (P498R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231933	NM_024963.6(FBXL18):c.160C>T (p.Arg54Cys)	FBXL18 (R54C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1809374	GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1	ACTB, AP5Z1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1711132	GRCh37/hg19 7p22.3-21.3(chr7:43360-9649794)x3	MAD1L1, MAFK +73 more	Copy number gain	See cases	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 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1330190	GRCh37/hg19 7p22.1(chr7:5096876-5569338)x1	ACTB, FBXL18 +5 more	Copy number loss	Autistic behavior +4 more	GPathogenic
Select item 814914	GRCh37/hg19 7p22.3-21.3(chr7:1648373-10627513)x3	ACTB, AIMP2 +54 more	Copy number gain	not provided	GPathogenic
Select item 786894	NM_024963.6(FBXL18):c.1655A>G (p.Asn552Ser)	FBXL18 (N452S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 726132	NM_024963.6(FBXL18):c.1350G>A (p.Lys450=)	FBXL18	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 685097	GRCh37/hg19 7p22.1(chr7:5218459-6319917)x3	WIPI2, ACTB +13 more	Copy number gain	not provided	GPathogenic
Select item 563411	GRCh37/hg19 7p22.2-21.3(chr7:4388620-7302293)x3	ACTB, AIMP2 +33 more	Copy number gain	not provided	GPathogenic
Select item 563329	GRCh37/hg19 7p22.1(chr7:5340345-5641546)x1	FSCN1, ACTB +3 more	Copy number loss	not provided	GUncertain significance
Select item 446329	GRCh37/hg19 7p22.3-21.3(chr7:2789546-9066894)x3	AP5Z1, C1GALT1 +42 more	Copy number gain	See cases	GPathogenic
Select item 443404	GRCh37/hg19 7p22.1(chr7:4839046-7110343)x3	ACTB, AIMP2 +30 more	Copy number gain	See cases	GLikely pathogenic
Select item 443071	GRCh37/hg19 7p22.3-21.3(chr7:43360-12098696)x3	ACTB, ADAP1 +76 more	Copy number gain	See cases	GPathogenic
Select item 442979	GRCh37/hg19 7p22.1(chr7:5268201-5803877)x3	ACTB, FBXL18 +5 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 442503	GRCh37/hg19 7p22.3-21.3(chr7:43360-11567351)x3	DAGLB, DNAAF5 +76 more	Copy number gain	See cases	GPathogenic
Select item 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 154607	GRCh38/hg38 7p22.1(chr7:5331115-5508766)x1	FBXL18, LINC02983 +7 more	Copy number loss	See cases	GUncertain significance
Select item 151554	GRCh38/hg38 7p22.1(chr7:5171797-5635439)x3	ACTB, FBXL18 +52 more	Copy number gain	See cases	GUncertain significance
Select item 150143	GRCh38/hg38 7p22.1(chr7:5378314-5849934)x4	ACTB, FBXL18 +50 more	Copy number gain	See cases	GLikely pathogenic
Select item 150142	GRCh38/hg38 7p22.1(chr7:5331115-6751518)x3	LINC03073, LOC106783574 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 149767	GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	ACTB, AIMP2 +78 more	Copy number gain	See cases	GUncertain significance
Select item 148915	GRCh38/hg38 7p22.1(chr7:4849987-5760088)x3	ACTB, FBXL18 +75 more	Copy number gain	See cases	GLikely pathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 148450	GRCh38/hg38 7p22.3-21.3(chr7:45130-7252065)x3	ACTB, ADAP1 +439 more	Copy number gain	See cases	GPathogenic
Select item 147563	GRCh38/hg38 7p22.3-22.1(chr7:54185-6638027)x3	ACTB, ADAP1 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146565	GRCh38/hg38 7p22.1(chr7:5448387-6276950)x1	ACTB, AIMP2 +71 more	Copy number loss	See cases	GLikely pathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 146045	GRCh38/hg38 7p22.1(chr7:5171797-5480926)x3	FBXL18, LINC02983 +19 more	Copy number gain	See cases	GUncertain significance
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	See cases	GPathogenic
Select item 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58511	GRCh38/hg38 7p22.1(chr7:5497215-5531287)x1	ACTB, FBXL18 +10 more	Copy number loss	See cases	GPathogenic
Select item 58509	GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1	ACTB, AIMP2 +63 more	Copy number loss	See cases	GPathogenic
Select item 58507	GRCh38/hg38 7p22.1(chr7:5117519-5880375)x1	ACTB, FBXL18 +69 more	Copy number loss	See cases	GPathogenic
Select item 58505	GRCh38/hg38 7p22.1(chr7:5062000-5825183)x1	ACTB, FBXL18 +71 more	Copy number loss	See cases	GPathogenic
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 more	Copy number loss	See cases	GPathogenic
Select item 58492	GRCh38/hg38 7p22.3-22.1(chr7:45130-5880375)x1	ACTB, ADAP1 +357 more	Copy number loss	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 100