ClinVar for Gene (Select 84792) - ClinVar

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Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062958	GRCh37/hg19 7p22.1(chr7:6007649-6753402)x3	AIMP2, CYTH3 +14 more	Copy number gain	not specified	GUncertain significance
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 2399352	NM_001037163.2(FAM220A):c.743A>G (p.Gln248Arg)	SAGSIN1, FAM220A (Q248R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2295222	NM_001037163.2(FAM220A):c.485C>T (p.Pro162Leu)	FAM220A, SAGSIN1 (P162L)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2259926	NM_001037163.2(FAM220A):c.448C>T (p.Pro150Ser)	FAM220A, SAGSIN1 (P150S)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2236584	NM_001037163.2(FAM220A):c.683A>G (p.Lys228Arg)	SAGSIN1, FAM220A (K228R)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234367	NM_001037163.2(FAM220A):c.254A>G (p.Tyr85Cys)	FAM220A, SAGSIN1 (Y85C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2232306	NM_001037163.2(FAM220A):c.596A>G (p.Tyr199Cys)	FAM220A, SAGSIN1 (Y199C)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2216645	NM_001037163.2(FAM220A):c.557C>G (p.Ala186Gly)	SAGSIN1, FAM220A (A186G)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2213256	NM_001037163.2(FAM220A):c.220C>T (p.Leu74Phe)	FAM220A, SAGSIN1 (L74F)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1809360	GRCh37/hg19 7p22.1(chr7:5907660-6483282)x3	AIMP2, CCZ1 +9 more	Copy number gain	not provided	GUncertain significance
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 1483586	NC_000007.13:g.(?_6026370)_(6744804_?)dup	DAGLB, EIF2AK1 +13 more	Duplication	not provided	GUncertain significance
Select item 1342395	NC_000007.14:g.5986941_6669974dup	AIMP2, ANKRD61 +57 more	Duplication	not provided	GUncertain significance
Select item 980261	GRCh37/hg19 7p22.1(chr7:6237905-6443802)x3	CYTH3, RAC1 +1 more	Copy number gain	not provided	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 980259	GRCh37/hg19 7p22.1(chr7:6183858-7137555)x3	CYTH3, RAC1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 814925	GRCh37/hg19 7p22.1(chr7:6278609-6415520)x1	RAC1, FAM220A +1 more	Copy number loss	not provided	GUncertain significance
Select item 814924	GRCh37/hg19 7p22.1(chr7:6107516-6567122)x1	FAM220A, USP42 +5 more	Copy number loss	not provided	GUncertain significance
Select item 814923	GRCh37/hg19 7p22.1(chr7:6065235-6384110)x1	EIF2AK1, CYTH3 +2 more	Copy number loss	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 689282	GRCh37/hg19 7p22.1(chr7:6241078-6394807)x3	CYTH3, FAM220A	Copy number gain	not provided	GUncertain significance
Select item 688999	GRCh37/hg19 7p22.1(chr7:6290521-6535060)x3	CYTH3, DAGLB +3 more	Copy number gain	not provided	GUncertain significance
Select item 688877	GRCh37/hg19 7p22.1(chr7:6262721-6488220)x1	CYTH3, DAGLB +2 more	Copy number loss	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 686141	GRCh37/hg19 7p22.1(chr7:6339213-6415520)x3	FAM220A, RAC1	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 625787	GRCh37/hg19 7p22.1(chr7:6385256-6431775)	RAC1, FAM220A	Copy number loss	Intellectual disability, autosomal dominant 48	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 563362	GRCh37/hg19 7p22.1(chr7:6037640-6540147)x3	AIMP2, CYTH3 +8 more	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	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 253741	GRCh37/hg19 7p22.1(chr7:6202675-6579535)x3	GRID2IP, DAGLB +4 more	Copy number gain	See cases	GUncertain significance
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 154421	GRCh38/hg38 7p22.1(chr7:6257137-6575271)x1	CYTH3, DAGLB +28 more	Copy number loss	See cases	GUncertain significance
Select item 152093	GRCh38/hg38 7p22.1(chr7:6213720-6697571)x3	CYTH3, DAGLB +42 more	Copy number gain	See cases	GUncertain significance
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 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 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	LOC129997985, LOC129997986 +560 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 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
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 59565	GRCh38/hg38 7p22.1(chr7:4876621-6492003)x3	ACTB, AIMP2 +119 more	Copy number gain	See cases	GUncertain significance
Select item 58516	GRCh38/hg38 7p22.1(chr7:6137098-6398566)x1	CYTH3, FAM220A +11 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 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	LOC126860013, LOC126860014 +1298 more	Copy number gain	See cases	GPathogenic
Select item 57254	GRCh38/hg38 7p22.1-21.3(chr7:6106402-11012657)x1	C1GALT1, CCZ1B +131 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 66