OCM[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 59675	GRCh38/hg38 7p22.3-22.1(chr7:45130-6270185)x3	BRAT1, ACTB +381 more	Copy number gain	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 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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
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 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 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 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58498	GRCh38/hg38 7p22.1(chr7:5062000-6692258)x1	LOC129997877, LOC129997878 +137 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 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 58509	GRCh38/hg38 7p22.1(chr7:5331115-6031221)x1	ACTB, AIMP2 +63 more	Copy number loss	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 152011	GRCh38/hg38 7p22.1(chr7:5635439-5883795)x3	LOC110121162, LOC123924897 +15 more	Copy number gain	See cases	GLikely benign
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 1696458	Single allele	AIMP2, CCZ1 +14 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
Select item 3203947	NM_001097622.2(OCM):c.16G>A (p.Val6Met)	OCM (V6M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3203950	NM_001097622.2(OCM):c.59G>A (p.Arg20Gln)	OCM (R20Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3302135	NM_001097622.2(OCM):c.63C>G (p.Asp21Glu)	OCM (D21E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3302136	NM_001097622.2(OCM):c.121G>C (p.Ala41Pro)	OCM (A3P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325107	NM_001097622.2(OCM):c.145C>T (p.Arg49Trp)	OCM (R11W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390863	NM_001097622.2(OCM):c.152T>C (p.Ile51Thr)	OCM (I51T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203945	NM_001097622.2(OCM):c.164A>G (p.Gln55Arg)	OCM (Q17R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203946	NM_001097622.2(OCM):c.168C>A (p.Ser56Arg)	OCM (S18R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391512	NM_001097622.2(OCM):c.221G>C (p.Gly74Ala)	OCM (G74A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203948	NM_001097622.2(OCM):c.266C>T (p.Ala89Val)	OCM (A51V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203949	NM_001097622.2(OCM):c.294T>G (p.Ile98Met)	OCM (I60M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291958	NM_001097622.2(OCM):c.323A>T (p.His108Leu)	OCM (H108L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3245662	NC_000007.13:g.(?_5900029)_(6018317_?)del	CCZ1, OCM +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
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 2423253	NC_000007.13:g.(?_5834270)_(6018235_?)del	CCZ1, OCM +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
Select item 1809374	GRCh37/hg19 7p22.1(chr7:4655928-5990874)x1	ACTB, AP5Z1 +15 more	Copy number loss	not provided	GPathogenic
Select item 1809360	GRCh37/hg19 7p22.1(chr7:5907660-6483282)x3	AIMP2, CCZ1 +9 more	Copy number gain	not provided	GUncertain significance
Select item 1808353	GRCh37/hg19 7p22.1(chr7:5832633-6065236)x1	AIMP2, CCZ1 +4 more	Copy number loss	not provided	GUncertain significance
Select item 1723215	Single allele	AIMP2, CCZ1 +4 more	Deletion	Lynch syndrome 1	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 980260	GRCh37/hg19 7p22.1(chr7:5919587-6762394)x3	DAGLB, EIF2AK1 +16 more	Copy number gain	not provided	GUncertain significance
Select item 980257	GRCh37/hg19 7p22.1(chr7:5676440-5965440)x3	CCZ1, OCM +1 more	Copy number gain	not provided	GUncertain significance
Select item 980256	GRCh37/hg19 7p22.1(chr7:5838734-5940027)x1	CCZ1, OCM	Copy number loss	not provided	GLikely benign
Select item 980255	GRCh37/hg19 7p22.1(chr7:5868442-5950019)x1	CCZ1, OCM	Copy number loss	not provided	GLikely benign
Select item 814922	GRCh37/hg19 7p22.1(chr7:5749102-6055706)x3	AIMP2, CCZ1 +4 more	Copy number gain	not provided	GUncertain significance
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 813255	GRCh37/hg19 7p22.1(chr7:5702085-5949898)x1	RNF216, CCZ1 +1 more	Copy number gain	global hypotonia	GUncertain significance
Select item 688102	GRCh37/hg19 7p22.1(chr7:5606650-6185838)x3	AIMP2, CCZ1 +7 more	Copy number gain	not provided	GPathogenic
Select item 687579	GRCh37/hg19 7p22.1(chr7:5759704-6055929)x3	AIMP2, CCZ1 +4 more	Copy number gain	not provided	GUncertain significance
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 687340	GRCh37/hg19 7p22.1(chr7:5749018-6065236)x3	AIMP2, CCZ1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 685553	GRCh37/hg19 7p22.1(chr7:5868560-6480658)x3	AIMP2, CCZ1 +9 more	Copy number gain	not provided	GUncertain significance
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 563347	GRCh37/hg19 7p22.1(chr7:5606650-5974130)x3	RNF216, RSPH10B +3 more	Copy number gain	not provided	GLikely pathogenic
Select item 563343	GRCh37/hg19 7p22.1(chr7:5706398-6052556)x3	AIMP2, CCZ1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563331	GRCh37/hg19 7p22.1(chr7:5626053-5934779)x3	FSCN1, OCM +1 more	Copy number gain	not provided	GUncertain significance
Select item 563324	GRCh37/hg19 7p22.1(chr7:5671133-5934779)x3	OCM, RNF216	Copy number gain	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 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 395286	GRCh37/hg19 7p22.1(chr7:5799660-5925847)x3	OCM, RNF216	Copy number gain	See cases	GBenign
Select item 395245	GRCh37/hg19 7p22.1(chr7:5864792-5925847)x3	OCM	Copy number gain	See cases	GBenign
Select item 394907	GRCh37/hg19 7p22.1(chr7:5717255-5925847)x3	OCM, RNF216	Copy number gain	See cases	GLikely benign
Select item 394587	GRCh37/hg19 7p22.1(chr7:5799660-5944692)x3	CCZ1, OCM +1 more	Copy number gain	See cases	GLikely benign
Select item 394474	GRCh37/hg19 7p22.1(chr7:5862847-5944692)x1	CCZ1, OCM	Copy number loss	See cases	GBenign
Select item 393941	GRCh37/hg19 7p22.3-21.3(chr7:183556-12746636)x3	TNRC18, TTYH3 +80 more	Copy number gain	See cases	GPathogenic

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Items: 80