ClinVar Miner

List of variants reported as uncertain significance for capillary malformation by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 168
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HGVS dbSNP
NM_000020.2(ACVRL1):c.*120G>A rs539571133
NM_000020.2(ACVRL1):c.*131C>T rs886049610
NM_000020.2(ACVRL1):c.*1351G>A rs886049616
NM_000020.2(ACVRL1):c.*1493G>A rs565400159
NM_000020.2(ACVRL1):c.*1630C>T rs886049617
NM_000020.2(ACVRL1):c.*1662A>T rs886049618
NM_000020.2(ACVRL1):c.*1689G>A rs139351455
NM_000020.2(ACVRL1):c.*1777G>A rs546585572
NM_000020.2(ACVRL1):c.*1839C>T rs755262319
NM_000020.2(ACVRL1):c.*200A>G rs886049611
NM_000020.2(ACVRL1):c.*205G>A rs886049612
NM_000020.2(ACVRL1):c.*2098A>C rs886049619
NM_000020.2(ACVRL1):c.*2277A>T rs529631289
NM_000020.2(ACVRL1):c.*2347A>C rs573540605
NM_000020.2(ACVRL1):c.*242A>G rs147728309
NM_000020.2(ACVRL1):c.*251A>G rs886049613
NM_000020.2(ACVRL1):c.*879G>T rs886049615
NM_000020.2(ACVRL1):c.-129G>A rs886049607
NM_000020.2(ACVRL1):c.-194A>C rs886049606
NM_000020.2(ACVRL1):c.-52G>A rs573048639
NM_000020.2(ACVRL1):c.-58G>A rs886049608
NM_000020.2(ACVRL1):c.429C>T (p.Val143=) rs762047618
NM_000020.2(ACVRL1):c.518T>C (p.Met173Thr) rs754813319
NM_000020.2(ACVRL1):c.713C>T (p.Ser238Phe) rs761033311
NM_000020.3(ACVRL1):c.*1107G>T
NM_000020.3(ACVRL1):c.*132G>A
NM_000020.3(ACVRL1):c.*1560A>G
NM_000020.3(ACVRL1):c.*1599A>G
NM_000020.3(ACVRL1):c.*1676T>C
NM_000020.3(ACVRL1):c.*2034G>T
NM_000020.3(ACVRL1):c.*2113C>T
NM_000020.3(ACVRL1):c.*2252G>A
NM_000020.3(ACVRL1):c.*2268G>C
NM_000020.3(ACVRL1):c.*2440G>T
NM_000020.3(ACVRL1):c.*478G>A
NM_000020.3(ACVRL1):c.*590G>T
NM_000020.3(ACVRL1):c.*592G>A
NM_000020.3(ACVRL1):c.*814G>A
NM_000020.3(ACVRL1):c.*980C>T
NM_000020.3(ACVRL1):c.-168G>C
NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly)
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=)
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln)
NM_000020.3(ACVRL1):c.722G>A (p.Arg241Gln)
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) rs779236098
NM_000118.3(ENG):c.*134G>A rs745843047
NM_000118.3(ENG):c.*26G>C rs371104611
NM_000118.3(ENG):c.*385C>A rs886063475
NM_000118.3(ENG):c.*487C>A rs886063474
NM_000118.3(ENG):c.*501G>A rs764451017
NM_000118.3(ENG):c.*508A>C rs138178682
NM_000118.3(ENG):c.-188G>A rs961480381
NM_000118.3(ENG):c.-246T>C rs886063478
NM_000118.3(ENG):c.-289A>C rs538284289
NM_000118.3(ENG):c.-338G>A rs534779092
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000118.3(ENG):c.-364G>A
NM_000118.3(ENG):c.-395C>A rs886063479
NM_000118.3(ENG):c.-63C>T rs886063476
NM_000118.3(ENG):c.-70del rs886063477
NM_000118.3(ENG):c.-9G>A rs368423516
NM_000118.3(ENG):c.1098C>T (p.Asp366=) rs201497772
NM_000118.3(ENG):c.111C>T (p.Pro37=) rs755626994
NM_000118.3(ENG):c.1135-8C>T rs79426098
NM_000118.3(ENG):c.1273-5C>T rs779103881
NM_000118.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266
NM_000118.3(ENG):c.1389C>T (p.Ala463=) rs200168633
NM_000118.3(ENG):c.1429-9_1429-6dup rs762494923
NM_000118.3(ENG):c.1695T>C (p.His565=) rs750637713
NM_000118.3(ENG):c.1780G>A (p.Gly594Ser) rs1060501409
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.220-6C>A rs756342212
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.322C>T (p.His108Tyr) rs756897517
NM_000118.3(ENG):c.360C>T (p.Tyr120=) rs121918402
NM_000118.3(ENG):c.361-12_361-11del rs781079790
NM_000118.3(ENG):c.405C>G (p.Thr135=) rs773521685
NM_000118.3(ENG):c.850G>A (p.Glu284Lys) rs372045549
NM_000118.3(ENG):c.900G>A (p.Leu300=) rs140155568
NM_001114753.3(ENG):c.*109C>T
NM_001114753.3(ENG):c.*391G>A
NM_001114753.3(ENG):c.*424G>C
NM_001114753.3(ENG):c.*438G>A
NM_001114753.3(ENG):c.*4C>T
NM_001114753.3(ENG):c.*530T>A
NM_001114753.3(ENG):c.*533G>A
NM_001114753.3(ENG):c.*534C>T
NM_001114753.3(ENG):c.*586C>T
NM_001114753.3(ENG):c.-227C>G
NM_001114753.3(ENG):c.-23G>A
NM_001114753.3(ENG):c.-249C>A
NM_001114753.3(ENG):c.-59C>T
NM_001114753.3(ENG):c.-90G>C
NM_001114753.3(ENG):c.1067T>C (p.Met356Thr)
NM_001114753.3(ENG):c.1241T>C (p.Met414Thr)
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)
NM_001114753.3(ENG):c.1511T>A (p.Val504Glu)
NM_001114753.3(ENG):c.1614A>G (p.Thr538=)
NM_001114753.3(ENG):c.1759C>T (p.Leu587Phe)
NM_001114753.3(ENG):c.1852+42C>T
NM_001114753.3(ENG):c.1852+51C>G
NM_001114753.3(ENG):c.1853-18C>T
NM_001114753.3(ENG):c.1853-9C>T
NM_001114753.3(ENG):c.219G>T (p.Thr73=)
NM_001114753.3(ENG):c.766C>T (p.Pro256Ser)
NM_001114753.3(ENG):c.9C>T (p.Arg3=)
NM_002890.3(RASA1):c.*1000_*1004GTTAA[1] rs886060850
NM_002890.3(RASA1):c.*267C>G
NM_002890.3(RASA1):c.*271A>C
NM_002890.3(RASA1):c.*298T>C rs886060846
NM_002890.3(RASA1):c.*424G>A rs191725379
NM_002890.3(RASA1):c.*448T>G rs886060847
NM_002890.3(RASA1):c.*476T>G rs543819845
NM_002890.3(RASA1):c.*572C>A rs886060848
NM_002890.3(RASA1):c.*577T>C
NM_002890.3(RASA1):c.*606G>A
NM_002890.3(RASA1):c.*748A>T
NM_002890.3(RASA1):c.*840_*842ATT[1] rs201705926
NM_002890.3(RASA1):c.*852A>G rs182603054
NM_002890.3(RASA1):c.*96C>G
NM_002890.3(RASA1):c.*9G>A rs886060845
NM_002890.3(RASA1):c.-179A>C rs886060838
NM_002890.3(RASA1):c.1611-15G>A
NM_002890.3(RASA1):c.2011+4A>C rs886060840
NM_002890.3(RASA1):c.2049G>C (p.Gly683=) rs886060841
NM_002890.3(RASA1):c.2089C>G (p.Pro697Ala)
NM_002890.3(RASA1):c.2139T>C (p.Ser713=)
NM_002890.3(RASA1):c.2487+11A>C rs886060842
NM_002890.3(RASA1):c.248G>A (p.Gly83Glu) rs755788420
NM_002890.3(RASA1):c.2608T>C (p.Leu870=) rs372498033
NM_002890.3(RASA1):c.2926-14C>T rs886060843
NM_002890.3(RASA1):c.3029G>A (p.Arg1010Gln) rs886060844
NM_002890.3(RASA1):c.351C>T (p.Thr117=) rs763970609
NM_002890.3(RASA1):c.402T>C (p.Phe134=)
NM_002890.3(RASA1):c.44C>T (p.Thr15Ile)
NM_002890.3(RASA1):c.567G>A (p.Thr189=)
NM_002890.3(RASA1):c.703A>G (p.Met235Val)
NM_002890.3(RASA1):c.75G>A (p.Ala25=)
NM_002890.3(RASA1):c.79T>C (p.Ser27Pro)
NM_002890.3(RASA1):c.899+8A>G rs781285667
NM_005359.5(SMAD4):c.*5543_*5546dupGCGC rs68159021
NM_005359.5(SMAD4):c.*5545_*5546delGC rs68159021
NM_005359.5(SMAD4):c.*5564_*5577dupCACACACACACACA rs56017493
NM_005359.5(SMAD4):c.*5570_*5577dupCACACACA rs56017493
NM_005359.5(SMAD4):c.*5572_*5577delCACACA rs56017493
NM_005359.5(SMAD4):c.*5574_*5577delCACA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577delCA rs56017493
NM_005359.5(SMAD4):c.*5576_*5577dupCA rs56017493
NM_005359.5(SMAD4):c.*6162_*6165delGATT rs886053936
NM_005359.5(SMAD4):c.-503_-501delACA rs886053885
NM_005359.6(SMAD4):c.*1512dup rs755827115
NM_005359.6(SMAD4):c.*1564_*1567del rs886053903
NM_005359.6(SMAD4):c.*2630A>G rs768569083
NM_005359.6(SMAD4):c.*2707_*2711del rs769541605
NM_005359.6(SMAD4):c.*3843G>A rs886053915
NM_005359.6(SMAD4):c.*4991dup rs886053919
NM_005359.6(SMAD4):c.*5004_*5005dup rs113155703
NM_005359.6(SMAD4):c.*5535_*5540del rs147193925
NM_005359.6(SMAD4):c.*5535_*5545delinsGCGCACA rs886053923
NM_005359.6(SMAD4):c.*5535_*5547delinsGCG rs886053924
NM_005359.6(SMAD4):c.*5535_*5549delinsG rs886053925
NM_005359.6(SMAD4):c.*5546_*5547insGCAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACAC rs1555688055
NM_005359.6(SMAD4):c.*5546_*5547insGCACACACAC rs1555688055
NM_005359.6(SMAD4):c.*5576C>G rs886053930
NM_005359.6(SMAD4):c.*5757dup rs886053931

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