3490[HGNC] - ClinVar

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Items: 75

	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 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 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 154585	GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1	AGMO, ARL4A +62 more	Copy number loss	See cases	GPathogenic
Select item 147493	GRCh38/hg38 7p21.3-21.2(chr7:13262814-15234164)x3	AGMO, DGKB +12 more	Copy number gain	See cases	GUncertain significance
Select item 2617551	NM_004956.5(ETV1):c.1430A>G (p.Tyr477Cys)	ETV1 (Y374C +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276603	NM_004956.5(ETV1):c.1405C>G (p.His469Asp)	ETV1 (H469D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473720	NM_004956.5(ETV1):c.1405C>T (p.His469Tyr)	ETV1 (H429Y +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2385529	NM_004956.5(ETV1):c.1382C>T (p.Pro461Leu)	ETV1 (P358L +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276607	NM_004956.5(ETV1):c.1381C>T (p.Pro461Ser)	ETV1 (P421S +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276611	NM_004956.5(ETV1):c.1365G>C (p.Glu455Asp)	ETV1 (E415D +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3234441	NM_004956.5(ETV1):c.1319G>A (p.Arg440His)	ETV1 (R337H +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2331657	NM_004956.5(ETV1):c.1292G>A (p.Arg431His)	ETV1 (R328H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536625	NM_004956.5(ETV1):c.1284T>A (p.Asp428Glu)	ETV1 (D325E +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276605	NM_004956.5(ETV1):c.1121G>A (p.Arg374His)	ETV1 (R374H +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276602	NM_004956.5(ETV1):c.971G>A (p.Arg324Gln)	ETV1 (R221Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276994	NM_004956.5(ETV1):c.916T>G (p.Cys306Gly)	ETV1 (C283G +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550602	NM_004956.5(ETV1):c.861C>A (p.Ser287Arg)	ETV1 (S287R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2532777	NM_004956.5(ETV1):c.758C>T (p.Pro253Leu)	ETV1 (P235L +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2289120	NM_004956.5(ETV1):c.755C>G (p.Pro252Arg)	ETV1 (P149R +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306687	NM_004956.5(ETV1):c.734C>T (p.Ala245Val)	ETV1 (A187V +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2378443	NM_004956.5(ETV1):c.715A>G (p.Asn239Asp)	ETV1 (N136D +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493205	NM_004956.5(ETV1):c.707A>G (p.Tyr236Cys)	ETV1 (Y220C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090730	NM_004956.5(ETV1):c.692A>G (p.Tyr231Cys)	ETV1 (Y173C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2527673	NM_004956.5(ETV1):c.685C>G (p.Gln229Glu)	ETV1 (Q211E +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2235974	NM_004956.5(ETV1):c.661C>T (p.Pro221Ser)	ETV1 (P118S +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276608	NM_004956.5(ETV1):c.622C>T (p.Arg208Cys)	ETV1 (R192C +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407477	NM_004956.5(ETV1):c.560G>A (p.Arg187His)	ETV1 (R147H +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292536	NM_004956.5(ETV1):c.476C>T (p.Pro159Leu)	ETV1 (P119L +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2372859	NM_004956.5(ETV1):c.428C>T (p.Thr143Met)	ETV1 (T103M +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276610	NM_004956.5(ETV1):c.400C>A (p.Pro134Thr)	ETV1 (P76T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 792071	NM_004956.5(ETV1):c.365+8C>T	ETV1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 3090727	NM_004956.5(ETV1):c.348G>T (p.Lys116Asn)	ETV1 (K116N +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276604	NM_004956.5(ETV1):c.319C>G (p.Gln107Glu)	ETV1 (Q107E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276606	NM_004956.5(ETV1):c.300C>G (p.Ser100Arg)	ETV1 (S42R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	See cases	GPathogenic
Select item 3090726	NM_004956.5(ETV1):c.201T>G (p.Asp67Glu)	ETV1 (D67E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2623776	NM_004956.5(ETV1):c.195C>A (p.Asp65Glu)	ETV1 (D25E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519331	NM_004956.5(ETV1):c.119C>G (p.Ala40Gly)	ETV1 (A40G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3090725	NM_004956.5(ETV1):c.113A>G (p.Asp38Gly)	ETV1 (D38G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389043	NM_004956.5(ETV1):c.112G>A (p.Asp38Asn)	ETV1 (D38N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2684482	GRCh37/hg19 7p21.3-21.2(chr7:12462428-14693884)x3	DGKB, ETV1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2579040	GRCh37/hg19 7p21.3-21.2(chr7:10973263-14669896)x3	ARL4A, DGKB +7 more	Copy number gain	not provided	GUncertain significance
Select item 1808193	GRCh37/hg19 7p21.2(chr7:13892190-14764908)x3	DGKB, ETV1	Copy number gain	not provided	GUncertain significance
Select item 1807681	GRCh37/hg19 7p21.2(chr7:13852084-15598523)x1	AGMO, DGKB +1 more	Copy number loss	not provided	GUncertain significance
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 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1320278	GRCh37/hg19 7p21.3-21.2(chr7:8980970-14085991)x3	ARL4A, ETV1 +6 more	Copy number gain	7p21.3p21.2 microduplication	GLikely pathogenic
Select item 1172572	GRCh37/hg19 7p21.2(chr7:13998001-15227144)x3	DGKB, ETV1	Copy number gain	See cases	GUncertain significance
Select item 814935	GRCh37/hg19 7p21.2(chr7:13905486-13985373)x1	ETV1	Copy number loss	not provided	GUncertain significance
Select item 814934	GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1	MEOX2, PRPS1L1 +19 more	Copy number loss	not provided	GPathogenic
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 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 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 442159	GRCh37/hg19 7p22.3-21.2(chr7:43360-14664158)x3	ACTB, ADAP1 +82 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic
Select item 393847	GRCh37/hg19 7p21.2(chr7:13839682-14068043)x3	ETV1	Copy number gain	See cases	GLikely benign

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Items: 75