ClinVar for Gene (Select 80028) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 81

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases	GUncertain significance
Select item 2610140	NM_024963.6(FBXL18):c.820G>C (p.Ala274Pro)	FBXL18 (A174P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2595395	NM_024963.6(FBXL18):c.871G>A (p.Val291Met)	FBXL18 (V291M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558007	NM_024963.6(FBXL18):c.25T>C (p.Ser9Pro)	FBXL18 (S9P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2554433	NM_024963.6(FBXL18):c.1104C>A (p.Asp368Glu)	FBXL18 (D268E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2514704	NM_024963.6(FBXL18):c.970T>A (p.Cys324Ser)	FBXL18 (C324S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2491936	NM_024963.6(FBXL18):c.1684T>C (p.Ser562Pro)	FBXL18 (S562P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2488842	NM_024963.6(FBXL18):c.848T>A (p.Leu283Gln)	FBXL18 (L183Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2470988	NM_024963.6(FBXL18):c.178G>C (p.Ala60Pro)	FBXL18 (A60P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2409174	NM_024963.6(FBXL18):c.360C>G (p.Ser120Arg)	FBXL18 (S120R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396913	NM_024963.6(FBXL18):c.1060G>C (p.Val354Leu)	FBXL18 (V354L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2332374	NM_024963.6(FBXL18):c.257G>T (p.Arg86Met)	FBXL18 (R86M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2332373	NM_024963.6(FBXL18):c.1610C>T (p.Thr537Met)	FBXL18 (T437M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316285	NM_024963.6(FBXL18):c.1032C>G (p.Ser344Arg)	FBXL18 (S344R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294354	NM_024963.6(FBXL18):c.1605C>G (p.His535Gln)	FBXL18 (H435Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276354	NM_024963.6(FBXL18):c.1145G>C (p.Cys382Ser)	FBXL18 (C382S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2262281	NM_024963.6(FBXL18):c.195C>G (p.Asp65Glu)	FBXL18 (D65E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2262061	NM_024963.6(FBXL18):c.578G>T (p.Ser193Ile)	FBXL18 (S193I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2246535	NM_024963.6(FBXL18):c.1570G>T (p.Val524Leu)	FBXL18 (V424L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232307	NM_024963.6(FBXL18):c.1113C>G (p.Asp371Glu)	FBXL18 (D371E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2232232	NM_024963.6(FBXL18):c.1793C>G (p.Pro598Arg)	FBXL18 (P498R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231933	NM_024963.6(FBXL18):c.160C>T (p.Arg54Cys)	FBXL18 (R54C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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	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 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	ACTB, ADAP1 +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	ACTB, ADAP1 +80 more	Copy number gain	See cases	GPathogenic
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	PSMG3, PSMG3-AS1 +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	ACTB, AIMP2 +120 more	Copy number gain	See cases	GLikely pathogenic
Select item 149767	GRCh38/hg38 7p22.1(chr7:5331115-6340621)x3	RNF216-IT1, RSPH10B +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	LOC129997989, LOC129997990 +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	LOC123924897, LOC123924898 +418 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	LOC110120728, LOC110120749 +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	CCDC146, CCDC201 +4735 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	ABCB5, ACTB +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	ACTB, AIMP2 +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	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 81