CAGE1[gene] - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58124	GRCh38/hg38 6p25.3-22.3(chr6:106431-18360595)x3	ADTRP, ATXN1 +825 more	Copy number gain	See cases	GPathogenic
Select item 155267	GRCh38/hg38 6p25.3-23(chr6:152634-14417003)x3	LOC129995681, LOC129995682 +643 more	Copy number gain	See cases	GPathogenic
Select item 151603	GRCh38/hg38 6p25.3-22.3(chr6:155807-17058414)x3	ADTRP, ATXN1 +779 more	Copy number gain	See cases	GPathogenic
Select item 155715	GRCh38/hg38 6p25.3-23(chr6:156974-13855925)x1	ADTRP, BLOC1S5 +612 more	Copy number loss	See cases	GPathogenic
Select item 155631	GRCh38/hg38 6p25.3-24.1(chr6:156974-13081201)x3	LOC129995778, LOC129995779 +559 more	Copy number gain	See cases	GLikely pathogenic
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	ILRUN-AS1, IP6K3 +2582 more	Copy number gain	See cases	GPathogenic
Select item 154190	GRCh38/hg38 6p25.3-24.2(chr6:156974-11550817)x3	SLC35B3, SMIM13 +510 more	Copy number gain	See cases	GLikely pathogenic
Select item 147369	GRCh38/hg38 6p25.3-24.3(chr6:163083-9525496)x3	BLOC1S5, BLOC1S5-TXNDC5 +437 more	Copy number gain	See cases	GPathogenic
Select item 144540	GRCh38/hg38 6p25.3-24.1(chr6:164360-13339881)x3	LOC129995802, LOC129995803 +573 more	Copy number gain	See cases	GPathogenic
Select item 58411	GRCh38/hg38 6p25.3-24.3(chr6:165675-9036034)x1	LOC123575663, LOC123575664 +433 more	Copy number loss	See cases	GPathogenic
Select item 58150	GRCh38/hg38 6p25.3-23(chr6:389423-13474956)x3	ADTRP, BLOC1S5 +537 more	Copy number gain	See cases	GPathogenic
Select item 154368	GRCh38/hg38 6p25.2-22.3(chr6:2862640-16697788)x1	ADTRP, ATXN1 +617 more	Copy number loss	See cases	GPathogenic
Select item 150044	GRCh38/hg38 6p25.2-21.33(chr6:3224310-30657190)x3	ABCF1, ABT1 +1340 more	Copy number gain	See cases	GPathogenic
Select item 146906	GRCh38/hg38 6p25.2-24.1(chr6:4068792-13267799)x1	LOC129995677, LOC129995678 +331 more	Copy number loss	See cases	GPathogenic
Select item 58423	GRCh38/hg38 6p25.1-24.3(chr6:4427090-8391140)x1	BLOC1S5, BLOC1S5-TXNDC5 +159 more	Copy number loss	See cases	GPathogenic
Select item 2681693	NM_001170692.2(CAGE1):c.2478+664C>T	CAGE1 (R819*)	Single nucleotide variant (nonsense +1 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2284615	NM_001170692.2(CAGE1):c.2472G>C (p.Met824Ile)	CAGE1 (M626I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411731	NM_001170692.2(CAGE1):c.2462C>T (p.Pro821Leu)	CAGE1 (P786L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223972	NM_001170692.2(CAGE1):c.2388A>C (p.Lys796Asn)	CAGE1 (K796N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136627	NM_001170692.2(CAGE1):c.2349A>G (p.Ile783Met)	CAGE1 (I748M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342001	NM_001170692.2(CAGE1):c.2321T>C (p.Ile774Thr)	CAGE1 (I739T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553204	NM_001170692.2(CAGE1):c.2309A>G (p.Tyr770Cys)	CAGE1 (Y572C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398446	NM_001170692.2(CAGE1):c.2248A>G (p.Ile750Val)	CAGE1 (I750V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241926	NM_001170692.2(CAGE1):c.2237G>A (p.Cys746Tyr)	CAGE1 (C746Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238970	NM_001170692.2(CAGE1):c.2183T>C (p.Leu728Pro)	CAGE1 (L565P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262939	NM_001170692.2(CAGE1):c.2167A>C (p.Ser723Arg)	CAGE1 (S560R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372805	NM_001170692.2(CAGE1):c.2080A>G (p.Ile694Val)	CAGE1 (I694V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136625	NM_001170692.2(CAGE1):c.2020G>T (p.Asp674Tyr)	CAGE1 (D674Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136624	NM_001170692.2(CAGE1):c.1856G>C (p.Ser619Thr)	CAGE1 (S619T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487861	NM_001170692.2(CAGE1):c.1832C>A (p.Ser611Tyr)	CAGE1 (S475Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136623	NM_001170692.2(CAGE1):c.1778C>T (p.Pro593Leu)	CAGE1 (P457L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3262940	NM_001170692.2(CAGE1):c.1696G>A (p.Ala566Thr)	CAGE1 (A566T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262943	NM_001170692.2(CAGE1):c.1691A>T (p.Glu564Val)	CAGE1 (E428V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136622	NM_001170692.2(CAGE1):c.1646A>G (p.Gln549Arg)	CAGE1 (Q413R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656206	NM_001170692.2(CAGE1):c.1515G>A (p.Leu505=)	CAGE1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3136621	NM_001170692.2(CAGE1):c.1423C>T (p.Arg475Trp)	CAGE1 (R475W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327767	NM_001170692.2(CAGE1):c.1371A>C (p.Gln457His)	CAGE1 (Q321H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136620	NM_001170692.2(CAGE1):c.1368A>C (p.Gln456His)	CAGE1 (Q320H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518020	NM_001170692.2(CAGE1):c.1364T>C (p.Leu455Pro)	CAGE1 (L455P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522435	NM_001170692.2(CAGE1):c.1346A>C (p.Glu449Ala)	CAGE1 (E313A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136619	NM_001170692.2(CAGE1):c.1283T>C (p.Met428Thr)	CAGE1 (M292T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136618	NM_001170692.2(CAGE1):c.1190A>G (p.Gln397Arg)	CAGE1 (Q261R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457631	NM_001170692.2(CAGE1):c.1033A>C (p.Thr345Pro)	CAGE1 (T345P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531830	NM_001170692.2(CAGE1):c.876T>A (p.Ser292Arg)	CAGE1, LOC129389436 (S156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264826	NM_001170692.2(CAGE1):c.859C>T (p.Pro287Ser)	CAGE1, LOC129389436 (P151S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507752	NM_001170692.2(CAGE1):c.841C>T (p.Arg281Trp)	CAGE1, LOC129389436 (R145W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308237	NM_001170692.2(CAGE1):c.760G>A (p.Val254Ile)	CAGE1, LOC129389436 (V254I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136631	NM_001170692.2(CAGE1):c.753A>C (p.Glu251Asp)	CAGE1 (E251D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354887	NM_001170692.2(CAGE1):c.683G>C (p.Cys228Ser)	CAGE1 (C228S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315855	NM_001170692.2(CAGE1):c.616A>G (p.Lys206Glu)	CAGE1 (K206E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214280	NM_001170692.2(CAGE1):c.583C>T (p.His195Tyr)	CAGE1 (H195Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262942	NM_001170692.2(CAGE1):c.574C>T (p.Pro192Ser)	CAGE1 (P192S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136628	NM_001170692.2(CAGE1):c.494A>C (p.Asn165Thr)	CAGE1 (N165T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262941	NM_001170692.2(CAGE1):c.476A>G (p.Asp159Gly)	CAGE1 (D159G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405833	NM_001170692.2(CAGE1):c.353T>C (p.Leu118Ser)	CAGE1 (L118S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290089	NM_001170692.2(CAGE1):c.245G>A (p.Cys82Tyr)	CAGE1 (C82Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514042	NM_001170692.2(CAGE1):c.178A>T (p.Thr60Ser)	CAGE1 (T60S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2394086	NM_001170692.2(CAGE1):c.170C>G (p.Thr57Ser)	CAGE1 (T57S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2218471	NM_001170692.2(CAGE1):c.120T>A (p.Asn40Lys)	CAGE1 (N40K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2489947	NM_001170692.2(CAGE1):c.85A>G (p.Ser29Gly)	CAGE1 (S29G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484044	NM_001170692.2(CAGE1):c.51T>A (p.His17Gln)	CAGE1 (H17Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3136629	NM_001170692.2(CAGE1):c.50A>G (p.His17Arg)	CAGE1 (H17R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2518155	NM_001170692.2(CAGE1):c.29C>T (p.Ser10Leu)	CAGE1 (S10L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684443	GRCh37/hg19 6p25.1-24.3(chr6:7062951-7341722)x3	CAGE1, RREB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684441	GRCh37/hg19 6p25.1-24.3(chr6:7000220-7328510)x3	CAGE1, RREB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 1810398	GRCh37/hg19 6p25.3-22.3(chr6:820000-21700000)x3	ADTRP, ATXN1 +89 more	Copy number gain	See cases	GPathogenic
Select item 1708201	GRCh37/hg19 6p25.1-24.3(chr6:6854908-7465142)x3	CAGE1, RIOK1 +2 more	Copy number gain	See cases	GPathogenic
Select item 980201	GRCh37/hg19 6p25.1-24.3(chr6:6495789-8070987)x3	BLOC1S5, BMP6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 979725	GRCh37/hg19 6p25.1-24.3(chr6:6874846-7396438)x3	CAGE1, SSR1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 814786	GRCh37/hg19 6p25.1-24.3(chr6:6959105-7385153)x3	CAGE1, SSR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 814785	GRCh37/hg19 6p25.1-24.3(chr6:6664656-7593975)x3	CAGE1, DSP +4 more	Copy number gain	not provided	GUncertain significance
Select item 814784	GRCh37/hg19 6p25.1-24.3(chr6:5997521-8570039)x1	BLOC1S5, BMP6 +11 more	Copy number loss	not provided	GPathogenic
Select item 688482	GRCh37/hg19 6p25.1-24.3(chr6:6846861-7759131)x3	BMP6, CAGE1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 687665	GRCh37/hg19 6p24.3(chr6:7198136-7338171)x3	CAGE1, RREB1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687409	GRCh37/hg19 6p25.3-22.3(chr6:156974-23221621)x3	ADTRP, ATXN1 +95 more	Copy number gain	not provided	GPathogenic
Select item 685950	GRCh37/hg19 6p25.1-24.3(chr6:6864042-7437958)x3	CAGE1, RIOK1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 563154	GRCh37/hg19 6p25.1-24.2(chr6:6990611-11276452)x1	BLOC1S5, BMP6 +23 more	Copy number loss	not provided	GPathogenic
Select item 563153	GRCh37/hg19 6p25.1-24.3(chr6:6815015-7387789)x3	RREB1, SSR1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 563149	GRCh37/hg19 6p25.1-24.3(chr6:4990661-10358695)x1	BLOC1S5, BMP6 +17 more	Copy number loss	not provided	GPathogenic
Select item 563144	GRCh37/hg19 6p25.3-24.3(chr6:1860928-8884071)x3	BLOC1S5, BMP6 +38 more	Copy number gain	not provided	GLikely pathogenic
Select item 563140	GRCh37/hg19 6p25.3-22.3(chr6:156974-21955964)x3	ADTRP, ATXN1 +93 more	Copy number gain	not provided	GPathogenic
Select item 563139	GRCh37/hg19 6p25.3-23(chr6:156974-13502033)x3	ADTRP, BLOC1S5 +66 more	Copy number gain	not provided	GPathogenic
Select item 560067	Single allele	ADTRP, ATXN1 +95 more	Duplication	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic
Select item 441632	GRCh37/hg19 6p24.3(chr6:7229084-7904034)x3	BMP6, CAGE1 +5 more	Copy number gain	See cases	GLikely benign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 253511	GRCh37/hg19 6p25.3-24.1(chr6:204009-11608587)x1	BLOC1S5, BMP6 +60 more	Copy number loss	See cases	GPathogenic
Select item 253430	GRCh37/hg19 6p25.1-22.3(chr6:5354402-17950079)x1	ADTRP, ATXN1 +51 more	Copy number loss	See cases	GPathogenic

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Items: 90