Individual #00001536

Ethnic origin Spanish-Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Lina Nuñez-Private Practice
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001809 DNA CNV;SEQ-NG Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) 27-nov-2019 Multigenetic panel - 116 Lina Nuñez-Private Practice



Variants

116 entries on 2 pages. Showing entries 1 - 100.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
1 Unknown -/- g.17054002G>T - SDHB_000003 Lina Nuñez-Private Practice SDHB 1 NM_003000.2:c.18C>A p.(=) Homo no r.(=) -
1 Unknown -/- g.45331833C>G - MUTYH_000004 Lina Nuñez-Private Practice MUTYH 12 NM_001128425.1:c.1014G>C p.(Gln338His) Hetero no r.(?) -
2 Unknown -/- g.29193500G>C - ALK_000011 Lina Nuñez-Private Practice ALK 29 NM_004304.4:c.4587C>G p.(Asp1529Glu) Homo no r.(?) -
2 Unknown -/- g.29193615T>C - ALK_000010 Lina Nuñez-Private Practice ALK 29 NM_004304.4:c.4472A>G p.(Lys1491Arg) Hetero no r.(?) -
2 Unknown -/- g.29193706T>C - ALK_000009 Lina Nuñez-Private Practice ALK 29 NM_004304.4:c.4381A>G p.(Ile1461Val) Homo no r.(?) -
2 Unknown -/- g.29193749G>A - ALK_000008 Lina Nuñez-Private Practice ALK 29 NM_004304.4:c.4338C>T p.(=) Hetero no r.(=) -
2 Unknown -/- g.29193928G>A - ALK_000007 Lina Nuñez-Private Practice ALK 28i NM_004304.4:c.4165-6C>T p.(=) Hetero no r.(=) -
2 Unknown -/- g.29222592G>T - ALK_000006 Lina Nuñez-Private Practice ALK 21 NM_004304.4:c.3375C>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.29226953C>T - ALK_000005 Lina Nuñez-Private Practice ALK 18 NM_004304.4:c.3036G>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.29232401A>G - ALK_000003 Lina Nuñez-Private Practice ALK 15 NM_004304.4:c.2535T>C p.(=) Homo no r.(=) -
2 Unknown -/- g.29320797T>C - ALK_000002 Lina Nuñez-Private Practice ALK 7 NM_004304.4:c.1500A>G p.(=) Homo no r.(=) -
2 Unknown -/- g.29717663A>T - ALK_000012 Lina Nuñez-Private Practice ALK 2 NM_004304.4:c.702T>A p.(=) Homo no r.(=) -
2 Unknown -/- g.29920633G>C - ALK_000004 Lina Nuñez-Private Practice ALK 1 NM_004304.4:c.27C>G p.(=) Homo no r.(=) -
2 Unknown -/- g.47403411C>G - MSH2_000002 Lina Nuñez-Private Practice MSH2 1i NM_000251.2:c.211+9C>G p.(=) Hetero no r.(=) -
2 Unknown -?/-? g.47408525C>A - MSH2_000054 Lina Nuñez-Private Practice MSH2 2 NM_000251.2:c.336C>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.47429732T>C - MSH2_000019 Lina Nuñez-Private Practice MSH2 6i NM_000251.2:c.1077-10T>C p.(=) Hetero no r.(=) -
2 Unknown -/- g.47476361T>C - MSH2_000005 Lina Nuñez-Private Practice MSH2 12i NM_000251.2:c.2006-6T>C p.(=) Hetero no r.(=) -
2 Unknown -/- g.47783419C>A - MSH6_000006 Lina Nuñez-Private Practice MSH6 1 NM_000179.2:c.186C>A p.(=) Homo no r.(=) -
2 Unknown -/- g.47790942A>G - MSH6_000008 Lina Nuñez-Private Practice MSH6 2 NM_000179.2:c.276A>G p.(=) Homo no r.(=) -
2 Unknown -/- g.47795976T>C - MSH6_000010 Lina Nuñez-Private Practice MSH6 3 NM_000179.2:c.540T>C p.(=) Homo no r.(=) -
2 Unknown -/- g.96253904C>T - TMEM127_000001 Lina Nuñez-Private Practice TMEM127 4 NM_017849.3:c.621G>A p.(=) Hetero no r.(=) -
2 Unknown -/-? g.214767531_214767532delinsTG - BARD1_000023 Lina Nuñez-Private Practice BARD1 6 NM_000465.3:c.1518_1519delinsCA p.(Val507Met) Hetero no r.(?) -
2 Unknown -/- g.214767532A>G - BARD1_000009 Lina Nuñez-Private Practice BARD1 6 NM_000465.3:c.1518T>C p.(=) Hetero no r.(=) -
2 Unknown -/- g.214780740C>G - BARD1_000002 Lina Nuñez-Private Practice BARD1 4 NM_000465.3:c.1134G>C p.(Arg378Ser) Homo no r.(?) -
2 Unknown -/- g.214809500G>A - BARD1_000004 Lina Nuñez-Private Practice BARD1 1 NM_000465.3:c.70C>T p.(Pro24Ser) Homo no r.(?) -
3 Unknown -/- g.122284910G>T - CASR_000001 Lina Nuñez-Private Practice CASR 7 NM_000388.3:c.2956G>T p.(Ala986Ser) Hetero no r.(?) -
3 Unknown -/- g.122284922A>G - CASR_000002 Lina Nuñez-Private Practice CASR 7 NM_000388.3:c.2968A>G p.(Arg990Gly) Hetero no r.(?) -
3 Unknown -/- g.128486108C>T - GATA2_000002 Lina Nuñez-Private Practice GATA2 3 NM_032638.5:c.490G>A p.(Ala164Thr) Hetero no r.(?) -
3 Unknown -/- g.128487017G>C - GATA2_000001 Lina Nuñez-Private Practice GATA2 2 NM_032638.5:c.15C>G p.(Pro5=) Hetero no r.(?) -
4 Unknown -/- g.41746200G>A - PHOX2B_000001 Lina Nuñez-Private Practice PHOX2B 3 NM_003924.4:c.552C>T p.(=) Hetero no r.(=) -
4 Unknown -/- g.54263911T>C - PDGFRA_000007 Lina Nuñez-Private Practice PDGFRA 4 NM_006206.5:c.612T>C p.(=) Hetero no r.(=) -
4 Unknown -/- g.54267559T>G - PDGFRA_000008 Lina Nuñez-Private Practice PDGFRA 7 NM_006206.5:c.939T>G p.(=) Hetero no r.(=) -
4 Unknown -/- g.54273604T>C - PDGFRA_000002 Lina Nuñez-Private Practice PDGFRA 10 NM_006206.5:c.1432T>C p.(Ser478Pro) Hetero no . -
4 Unknown -/- g.54274888A>G - PDGFRA_000003 Lina Nuñez-Private Practice PDGFRA 12 NM_006206.5:c.1701A>G p.(=) Homo no r.(=) -
4 Unknown -/- g.54277410G>A - PDGFRA_000004 Lina Nuñez-Private Practice PDGFRA 13 NM_006206.5:c.1809G>A p.(=) Hetero no r.(=) -
4 Unknown -/- g.54285873C>T - PDGFRA_000005 Lina Nuñez-Private Practice PDGFRA 18 NM_006206.5:c.2472C>T p.(=) Hetero no r.(=) -
4 Unknown -/- g.54295224T>C - PDGFRA_000006 Lina Nuñez-Private Practice PDGFRA 23 NM_006206.5:c.3222T>C p.(=) Homo no r.(=) -
5 Unknown -/- g.230996T>C - SDHA_000002 Lina Nuñez-Private Practice SDHA 7 NM_004168.3:c.891T>C p.(=) Hetero no r.(=) -
5 Unknown -/- g.80654962A>G - MSH3_000001 Lina Nuñez-Private Practice MSH3 1 NM_002439.4:c.235A>G p.(Ile79Val) Hetero no r.(?) -
5 Unknown -/- g.80854162A>G - MSH3_000002 Lina Nuñez-Private Practice MSH3 21 NM_002439.4:c.2846A>G p.(Gln949Arg) Homo no r.(?) -
5 Unknown -/- g.80873118G>A - MSH3_000003 Lina Nuñez-Private Practice MSH3 23 NM_002439.4:c.3133G>A p.(Ala1045Thr) Hetero no r.(?) -
5 Unknown -/- g.112827157T>C - APC_000006 Lina Nuñez-Private Practice APC 11 NM_000038.5:c.1458T>C p.(=) Homo no r.(=) -
5 Unknown -/- g.112828864G>A - APC_000007 Lina Nuñez-Private Practice APC 13 NM_000038.5:c.1635G>A p.(=) Homo no r.(=) -
5 Unknown -/- g.112840073G>A - APC_000008 Lina Nuñez-Private Practice APC 15 NM_000038.5:c.4479G>A p.(=) Homo no r.(=) -
5 Unknown -/- g.112840628G>A - APC_000009 Lina Nuñez-Private Practice APC 15 NM_000038.5:c.5034G>A p.(=) Homo no r.(=) -
5 Unknown -/- g.112840862T>G - APC_000013 Lina Nuñez-Private Practice APC 15 NM_000038.5:c.5268T>G p.(=) Homo no r.(=) -
5 Unknown -/- g.112841059T>A - APC_000002 Lina Nuñez-Private Practice APC 15 NM_000038.5:c.5465T>A p.(Val1822Asp) Homo no r.(?) -
5 Unknown -/- g.112841474G>A - APC_000011 Lina Nuñez-Private Practice APC 15 NM_000038.5:c.5880G>A p.(=) Homo no r.(=) -
7 Unknown -/- g.5973522A>G - PMS2_000021 Lina Nuñez-Private Practice PMS2 15 NM_000535.5:c.2466T>C p.(=) Not specified no r.(=) -
7 Unknown -/- g.5977709T>C - PMS2_000048 Lina Nuñez-Private Practice PMS2 14 NM_000535.5:c.2324A>G p.(Asn775Ser) Not specified no r.(?) -
7 Unknown -/- g.5978618A>G - PMS2_000047 Lina Nuñez-Private Practice PMS2 13 NM_000535.5:c.2253T>C p.(=) Not specified no r.(=) -
7 Unknown -/- g.5982995C>T - PMS2_000017 Lina Nuñez-Private Practice PMS2 11i NM_000535.5:c.2007-4G>A p.? Not specified no r.spl? -
7 Unknown -/- g.5987357G>A - PMS2_000005 Lina Nuñez-Private Practice PMS2 11 NM_000535.5:c.1408C>T p.(Pro470Ser) Hetero no r.(?) -
7 Unknown -/- g.5997349G>C - PMS2_000004 Lina Nuñez-Private Practice PMS2 7 NM_000535.5:c.780C>G p.(=) Hetero no r.(=) -
7 Unknown -/- g.55146655C>T - EGFR_000004 Lina Nuñez-Private Practice EGFR 4 NM_005228.4:c.474C>T p.(Asn158=) Homo no r.(?) -
7 Unknown -/- g.55161562G>A - EGFR_000001 Lina Nuñez-Private Practice EGFR 13 NM_005228.4:c.1562G>A p.(Arg521Lys) Hetero no R.(?) -
7 Unknown -/- g.55171181T>A - EGFR_000002 Lina Nuñez-Private Practice EGFR 16 NM_005228.4:c.1887T>A p.(Thr629=) Hetero no r.(?) -
7 Unknown -/- g.55181370G>A - EGFR_000003 Lina Nuñez-Private Practice EGFR 20 NM_005228.4:c.2361G>A p.(Gln787=) Hetero no r.(?) -
7 Unknown -/- g.116795714C>T - MET_000002 Lina Nuñez-Private Practice MET 20 NM_001127500.2:c.3912C>T p.(Asp1304=) Homo no r.(=) -
7 Unknown -/- g.116795968G>A - MET_000001 Lina Nuñez-Private Practice MET 21 NM_001127500.2:c.4071G>A p.(Ala1357=) Homo no r.(=) -
7 Unknown -/- g.116796043G>A - MET_000003 Lina Nuñez-Private Practice MET 21 NM_001127500.2:c.4146G>A p.(Pro1382=) Homo no r.(=) -
7 Unknown -/- g.124858948_124858949delinsCA - POT1_000001 Lina Nuñez-Private Practice POT1 9i NM_015450.2:c.702+8_702+9delinsTG p.(=) Hetero no r.(=) -
8 Unknown -/- g.31141606C>T - WRN_000004 Lina Nuñez-Private Practice WRN 25i XM_011544639.3:c.3138+6C>T p.(=) Homo no r.(=) -
8 Unknown -/- g.31167122C>T - WRN_000005 Lina Nuñez-Private Practice WRN 34 XM_011544639.3:c.4083C>T p.(=) Hetero no r.(=) -
8 Unknown -/- g.31167138T>C - WRN_000006 Lina Nuñez-Private Practice WRN 34 XM_011544639.3:c.4099T>C p.(=) Hetero no r.(=) -
8 Unknown -/- g.144512433C>T - RECQL4_000003 Lina Nuñez-Private Practice RECQL4 17 NM_004260.4:c.3014G>A p.(Arg1005Gln) Hetero no r.(?) -
8 Unknown -/- g.144516318C>G - RECQL4_000005 Lina Nuñez-Private Practice RECQL4 5 NM_004260.4:c.801G>C p.(=) Hetero no r.(=) -
8 Unknown -/- g.144516381G>A - RECQL4_000004 Lina Nuñez-Private Practice RECQL4 5 NM_004260.4:c.738C>T p.(=) Hetero no r.(=) -
8 Unknown -/- g.144517415T>C - RECQL4_000002 Lina Nuñez-Private Practice RECQL4 3 NM_004260.4:c.212A>G p.(Glu71Gly) Hetero no r.(?) -
8 Unknown -/- g.144517495T>C - RECQL4_000001 Lina Nuñez-Private Practice RECQL4 3 NM_004260.4:c.132A>G p.(=) Homo no r.(=) -
9 Unknown -/- g.21970917C>T - CDKN2A_000002 Lina Nuñez-Private Practice CDKN2A 2 NM_000077.4:c.442G>A p.(Ala148Thr) Hetero no r.(?) -
9 Unknown -/- g.95449290T>A - PTCH1_000003 Lina Nuñez-Private Practice PTCH1 22 NM_000264.4:c.3583A>T p.(Thr1195Ser) Hetero no . -
9 Unknown -/- g.95467107C>G - PTCH1_000002 Lina Nuñez-Private Practice PTCH1 15i NM_000264.4:c.2560+9G>C p.(=) Hetero no r.(=) -
9 Unknown -/- g.95476865A>G - PTCH1_000001 Lina Nuñez-Private Practice PTCH1 10i NM_000264.4:c.1504-8T>C p.(=) Hetero no r.(=) -
9 Unknown -/-? g.132896406G>A - TSC1_000005 Lina Nuñez-Private Practice TSC1 23 NM_000368.4:c.3324C>T p.(=) Hetero no r.(=) -
10 Unknown -/- g.43111239A>G - RET_000002 Lina Nuñez-Private Practice RET 7 NM_020975.5:c.1296A>G p.(Ala432=) Hetero no r.(?) -
10 Unknown -/-? g.43119646C>T - RET_000012 Lina Nuñez-Private Practice RET 14 NM_020975.5:c.2508C>T p.(Ser836=) Hetero no r.(?) -
11 Unknown -/- g.534242A>G - HRAS_000001 Lina Nuñez-Private Practice HRAS 2 NM_005343.3:c.81T>C p.(His27=) Hetero no r.(?) -
11 Unknown -/- g.2884935A>G - CDKN1C_000002 Lina Nuñez-Private Practice CDKN1C 1 NM_000076.2:c.555T>C p.(=) Hetero no r.(=) -
11 Unknown -/- g.2884967_2884978del - CDKN1C_000001 Lina Nuñez-Private Practice CDKN1C 1 NM_000076.2:c.512_523del p.(Ala171_Ala174del) Hetero no r.(?) -
11 Unknown -/- g.32434767G>A - WT1_000003 Lina Nuñez-Private Practice WT1 1 NM_024426.5:c.594C>T p.(=) Hetero no r.(=) -
11 Unknown -/- g.32435163C>A - WT1_000002 Lina Nuñez-Private Practice WT1 1 NM_024426.5:c.198G>T p.(=) Hetero no r.(=) -
11 Unknown -/- g.64805130G>A - MEN1_000002 Lina Nuñez-Private Practice MEN1 9 NM_130799.2:c.1254C>T p.(=) Hetero no r.(=) -
11 Unknown -/- g.67490352C>A - AIP_000001 Lina Nuñez-Private Practice AIP 5 NM_003977.3:c.682C>A p.(Gln228Lys) Homo no r.(?) -
12 Unknown -/- g.132676210C>G - POLE_000009 Lina Nuñez-Private Practice POLE 9i NM_006231.3:c.910-6G>C p.(=) Homo no r.(=) -
12 Unknown -/- g.144511903G>A - RECQL_000002 Lina Nuñez-Private Practice RECQL 19i NM_032941.2:c.3393+8C>T p.(=) Hetero no r.(=) -
13 Unknown -/- g.32332592A>C - BRCA2_000007 Lina Nuñez-Private Practice BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero no r.(?) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 Lina Nuñez-Private Practice BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo no r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 Lina Nuñez-Private Practice BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo no r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 Lina Nuñez-Private Practice BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Homo no r.(=) -
13 Unknown -/- g.48477345T>A - RB1_000002 Lina Nuñez-Private Practice RB1 25i NM_000321.2:c.2664-10T>A p.(=) Hetero no r.(=) -
14 Unknown -/- g.95099771C>A - DICER1_000001 Lina Nuñez-Private Practice DICER1 22i NM_177438.2:c.4206+9G>T p.(=) Homo no r.(=) -
16 Unknown -/-? g.2083725C>T - TSC2_000002 Lina Nuñez-Private Practice TSC2 33 NM_000548.3:c.3914C>T p.(Pro1305Leu) Hetero no r.(?) -
16 Unknown -/- g.23634870T>C - PALB2_000004 Lina Nuñez-Private Practice PALB2 4 NM_024675.3:c.1676A>G p.(Gln559Arg) Hetero no r.(?) -
16 Unknown -/- g.68737469C>T - CDH1_000002 Lina Nuñez-Private Practice CDH1 1i NM_004360.3:c.48+6C>T p.(=) Hetero no r.(=) -
16 Unknown -/- g.68823538T>C - CDH1_000001 Lina Nuñez-Private Practice CDH1 13 NM_004360.3:c.2076T>C p.(=) Homo no r.(=) -
17 Unknown -/- g.7676154G>C - TP53_000001 Lina Nuñez-Private Practice TP53 4 NM_000546.5:c.215C>G p.(Pro72Arg) Hetero no r.(?) -
17 Unknown -/- g.7676261C>T Reclassified November 2020 TP53_000007 Lina Nuñez-Private Practice TP53 4 NM_000546.5:c.108G>A p.(=) Hetero no r.(=) -
17 Unknown -/- g.17219013G>A - FLCN_000001 Lina Nuñez-Private Practice FLCN 9i NM_144997.6:c.1062+6C>T . Hetero no r.(?) -
17 Unknown -/- g.31226467G>A - NF1_000001 Lina Nuñez-Private Practice NF1 18 NM_000267.3:c.2034G>A p.(=) Homo no r.(=) -
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