ClinVar for Gene (Select 113451) - ClinVar

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Links from Gene

Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3328871	NM_018207.3(TRIM62):c.985G>C (p.Asp329His)	AZIN2, TRIM62 +1 more (D329H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328869	NM_018207.3(TRIM62):c.1150C>T (p.Arg384Cys)	AZIN2, TRIM62 +1 more (R384C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328868	NM_018207.3(TRIM62):c.1325G>A (p.Arg442His)	AZIN2, TRIM62 +1 more (R321H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328867	NM_018207.3(TRIM62):c.722G>A (p.Arg241Gln)	AZIN2, TRIM62 +1 more (R241Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328866	NM_018207.3(TRIM62):c.620C>T (p.Thr207Met)	AZIN2, TRIM62 +1 more (T207M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3328865	NM_018207.3(TRIM62):c.452G>A (p.Arg151Gln)	AZIN2, TRIM62 +1 more (R151Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3258524	NM_052998.4(AZIN2):c.467T>C (p.Ile156Thr)	AZIN2 (I156T +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258514	NM_052998.4(AZIN2):c.902A>C (p.Gln301Pro)	AZIN2 (Q150P +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3258502	NM_052998.4(AZIN2):c.1129C>T (p.His377Tyr)	AZIN2 (H282Y +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3182652	NM_018207.3(TRIM62):c.617G>A (p.Arg206His)	AZIN2, TRIM62 +1 more (R85H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182651	NM_018207.3(TRIM62):c.595G>A (p.Glu199Lys)	AZIN2, TRIM62 +1 more (E199K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182647	NM_018207.3(TRIM62):c.1400C>T (p.Pro467Leu)	AZIN2, TRIM62 +1 more (P467L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182646	NM_018207.3(TRIM62):c.1289A>G (p.Tyr430Cys)	AZIN2, TRIM62 +1 more (Y309C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3182645	NM_018207.3(TRIM62):c.1274G>T (p.Gly425Val)	AZIN2, TRIM62 +1 more (G304V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3132514	NM_052998.4(AZIN2):c.637A>G (p.Ile213Val)	AZIN2 (I118V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132513	NM_052998.4(AZIN2):c.334G>A (p.Ala112Thr)	AZIN2 (A54T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3132512	NM_052998.4(AZIN2):c.1352G>A (p.Gly451Asp)	AZIN2 (G451D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132511	NM_052998.4(AZIN2):c.1190C>G (p.Pro397Arg)	AZIN2 (P397R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3132510	NM_052998.4(AZIN2):c.1034C>A (p.Pro345Gln)	AZIN2 (P345Q +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062788	GRCh37/hg19 1p35.1(chr1:33490421-33599915)x1	AK2, AZIN2	Copy number loss	not specified	GPathogenic
Select item 2681486	NM_052998.4(AZIN2):c.370G>T (p.Ala124Ser)	AZIN2 (A124S +2 more)	Single nucleotide variant (missense variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2610537	NM_052998.4(AZIN2):c.439C>T (p.His147Tyr)	AZIN2 (H147Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2594502	NM_018207.3(TRIM62):c.482A>G (p.Lys161Arg)	TRIM62, ZNF362 +1 more (K40R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592888	NM_018207.3(TRIM62):c.902C>T (p.Pro301Leu)	AZIN2, TRIM62 +1 more (P301L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559895	NM_018207.3(TRIM62):c.1421G>A (p.Arg474His)	AZIN2, TRIM62 +1 more (R474H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557232	NM_052998.4(AZIN2):c.1087G>A (p.Gly363Ser)	AZIN2 (G383S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534157	NM_052998.4(AZIN2):c.503G>A (p.Ser168Asn)	AZIN2 (S110N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530035	NM_052998.4(AZIN2):c.380A>T (p.His127Leu)	AZIN2 (H32L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2512581	NM_018207.3(TRIM62):c.616C>T (p.Arg206Cys)	AZIN2, TRIM62 +1 more (R206C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508287	NM_018207.3(TRIM62):c.1105C>A (p.His369Asn)	AZIN2, ZNF362 +1 more (H248N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489111	NM_052998.4(AZIN2):c.215A>G (p.Asn72Ser)	AZIN2 (N72S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2402640	NM_052998.4(AZIN2):c.1234C>T (p.Arg412Trp)	AZIN2 (R261W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395136	NM_052998.4(AZIN2):c.1181T>C (p.Met394Thr)	AZIN2 (M299T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2390769	NM_052998.4(AZIN2):c.650G>A (p.Arg217Gln)	AZIN2 (R217Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362685	NM_018207.3(TRIM62):c.1003G>A (p.Asp335Asn)	AZIN2, TRIM62 +1 more (D214N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344883	NM_018207.3(TRIM62):c.718G>A (p.Asp240Asn)	AZIN2, TRIM62 +1 more (D119N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316887	NM_052998.4(AZIN2):c.1192T>C (p.Phe398Leu)	AZIN2 (F340L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2311217	NM_052998.4(AZIN2):c.1018A>C (p.Ile340Leu)	AZIN2 (I360L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2292329	NM_052998.4(AZIN2):c.838T>A (p.Tyr280Asn)	AZIN2 (Y222N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265850	NM_052998.4(AZIN2):c.702C>A (p.Asp234Glu)	AZIN2 (D83E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2257234	NM_018207.3(TRIM62):c.467C>T (p.Ala156Val)	AZIN2, TRIM62 +1 more (A156V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256092	NM_018207.3(TRIM62):c.752T>C (p.Leu251Pro)	AZIN2, TRIM62 +1 more (L130P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254473	NM_018207.3(TRIM62):c.575G>A (p.Arg192His)	AZIN2, TRIM62 +1 more (R192H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218985	NM_052998.4(AZIN2):c.941C>T (p.Thr314Ile)	AZIN2 (T256I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209045	NM_052998.4(AZIN2):c.415G>A (p.Glu139Lys)	AZIN2 (E44K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207239	NM_052998.4(AZIN2):c.91T>C (p.Ser31Pro)	AZIN2 (S31P)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 980385	GRCh37/hg19 1p35.1(chr1:33490421-33599915)x1	AZIN2, AK2	Copy number loss	not provided	GUncertain significance
Select item 814067	GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3	TMEM54, RBBP4 +51 more	Copy number gain	not provided	GLikely pathogenic
Select item 791788	NM_052998.4(AZIN2):c.442C>T (p.Pro148Ser)	AZIN2 (P90S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 788074	NM_052998.4(AZIN2):c.762C>T (p.Ser254=)	AZIN2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 781661	NM_018207.3(TRIM62):c.702G>A (p.Glu234=)	AZIN2, TRIM62 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775532	NM_018207.3(TRIM62):c.1417G>A (p.Val473Ile)	AZIN2, TRIM62 +1 more (V473I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 770112	NM_052998.4(AZIN2):c.562C>A (p.His188Asn)	AZIN2 (H188N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 746594	NM_018207.3(TRIM62):c.621G>A (p.Thr207=)	AZIN2, TRIM62 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741382	NM_018207.3(TRIM62):c.523C>A (p.Arg175=)	AZIN2, TRIM62 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727194	NM_018207.3(TRIM62):c.633C>T (p.Ile211=)	AZIN2, TRIM62 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 727193	NM_018207.3(TRIM62):c.1002C>T (p.Phe334=)	AZIN2, TRIM62 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 625764	GRCh37/hg19 1p35.1-34.3(chr1:32859415-36454915)	YARS1, ZBTB8A +41 more	Copy number loss	not provided	GPathogenic
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	KCNQ4, KDM4A +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	LINC02811, LITATS1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146124	GRCh38/hg38 1p35.3-35.1(chr1:28424867-33122854)x1	LOC129929998, LOC129929999 +293 more	Copy number loss	See cases	GPathogenic
Select item 59931	GRCh38/hg38 1p35.2-35.1(chr1:30766758-33359428)x1	A3GALT2, ADGRB2 +214 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 67