ClinVar for Gene (Select 654231) - ClinVar

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

Links from Gene

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3245662	NC_000007.13:g.(?_5900029)_(6018317_?)del	CCZ1, OCM +2 more	Deletion	Hereditary nonpolyposis colorectal neoplasms	GPathogenic
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 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 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 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 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 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 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 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 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 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 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 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 1696458	Single allele	AIMP2, CCZ1 +14 more	Duplication	7p22.1 microduplication syndrome	GUncertain significance
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
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 152011	GRCh38/hg38 7p22.1(chr7:5635439-5883795)x3	LOC110121162, LOC123924897 +15 more	Copy number gain	See cases	GLikely benign
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 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 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 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 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 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 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

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: 80