List of variants reported as pathogenic for benign neoplasm by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 263

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003000.3(SDHB):c.136C>T (p.Arg46Ter)	rs74315370	0.00003
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)	rs267607032	0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)	rs74315369	0.00003
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys)	rs367543286	0.00001
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)	rs772551056	0.00001
NM_003000.3(SDHB):c.143A>T (p.Asp48Val)	rs202101384	0.00001
NM_003000.3(SDHB):c.221A>C (p.Asp74Ala)	rs876658713	0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	rs74315366	0.00001
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)	rs587782243	0.00001
NM_003000.3(SDHB):c.287G>A (p.Gly96Asp)	rs778952116	0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter)	rs751000085	0.00001
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)	rs786201095	0.00001
NM_003000.3(SDHB):c.423+1G>A	rs398122805	0.00001
NM_003000.3(SDHB):c.600G>T (p.Trp200Cys)	rs397516836	0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)	rs200245469	0.00001
NM_003000.3(SDHB):c.688C>T (p.Arg230Cys)	rs138996609	0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His)	rs587782604	0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His)	rs74315368	0.00001
NM_003002.4(SDHD):c.1A>T (p.Met1Leu)	rs104894307	0.00001
NM_003002.4(SDHD):c.205G>A (p.Glu69Lys)	rs202198133	0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu)	rs80338844	0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr)	rs80338845	0.00001
NC_000001.10:g.(?_17345376)_(17345463_?)del
NC_000001.10:g.(?_17345376)_(17359650_?)del
NC_000001.10:g.(?_17345376)_(17371403_?)del
NC_000001.10:g.(?_17349093)_(17380514_?)del
NC_000001.10:g.(?_17359545)_(17380514_?)del
NC_000001.10:g.(?_17371246)_(17380514_?)del
NC_000001.10:g.(?_17380423)_(17380514_?)del
NC_000001.10:g.(?_17380437)_(17380520_?)del
NC_000001.11:g.(?_17018871)_(17018968_?)del
NC_000001.11:g.(?_17018871)_(17033155_?)del
NC_000001.11:g.(?_17018871)_(17044898_?)del
NC_000001.11:g.(?_17018871)_(17054029_?)del
NC_000001.11:g.(?_17018875)_(17033151_?)del
NC_000001.11:g.(?_17018881)_(17044898_?)del
NC_000001.11:g.(?_17018881)_(17054019_?)del
NC_000001.11:g.(?_17018881)_(17071491_?)del
NC_000001.11:g.(?_17033050)_(17033155_?)del
NC_000001.11:g.(?_17033054)_(17033151_?)del
NC_000001.11:g.(?_17044751)_(17044898_?)del
NC_000001.11:g.(?_17044761)_(17044888_?)del
NC_000001.11:g.(?_17053938)_(17054029_?)del
NC_000011.10:g.(?_112086898)_(112094980_?)del
NC_000011.10:g.(?_112086902)_(112094975_?)del
NC_000011.10:g.(?_112088857)_(112094980_?)del
NC_000011.10:g.(?_112094795)_(112094970_?)del
NC_000011.10:g.(?_112094795)_(112094980_?)del
NC_000011.10:g.(?_112094799)_(112094976_?)del
NC_000011.9:g.(?_111171709)_(111958707_?)del
NC_000011.9:g.(?_111171709)_(111959745_?)del
NC_000011.9:g.(?_111171709)_(111965694_?)del
NC_000011.9:g.(?_111956548)_(111967525_?)del
NC_000011.9:g.(?_111957547)_(111958707_?)del
NC_000011.9:g.(?_111957632)_(111958717_?)del
NC_000011.9:g.(?_111957632)_(111965694_?)del
NC_000011.9:g.(?_111959581)_(111965694_?)del
NM_002609.4(PDGFRB):c.1679C>T (p.Pro560Leu)
NM_002609.4(PDGFRB):c.2483C>A (p.Ala828Glu)
NM_003000.2(SDHB):c.-151_*159del
NM_003000.3(SDHB):c.111_112dup (p.Arg38fs)	rs398123690
NM_003000.3(SDHB):c.112del (p.Arg38fs)	rs398123690
NM_003000.3(SDHB):c.126del (p.Phe42fs)	rs878854572
NM_003000.3(SDHB):c.134_138dup (p.Trp47fs)
NM_003000.3(SDHB):c.135T>G (p.Tyr45Ter)	rs1351034939
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)	rs74315370
NM_003000.3(SDHB):c.137G>T (p.Arg46Leu)	rs772551056
NM_003000.3(SDHB):c.141G>A (p.Trp47Ter)	rs1060503762
NM_003000.3(SDHB):c.143_144dup (p.Pro49fs)	rs1570958038
NM_003000.3(SDHB):c.146del (p.Pro49fs)
NM_003000.3(SDHB):c.148_151dup (p.Lys51fs)	rs1570958022
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)	rs786202100
NM_003000.3(SDHB):c.17_18insACTCTCCTTGAGGCGCCGGTTGC (p.Ala15fs)	rs2101551903
NM_003000.3(SDHB):c.183T>A (p.Tyr61Ter)	rs760169139
NM_003000.3(SDHB):c.183T>G (p.Tyr61Ter)	rs760169139
NM_003000.3(SDHB):c.190del (p.Asp64fs)	rs1553178729
NM_003000.3(SDHB):c.194T>C (p.Leu65Pro)	rs876659329
NM_003000.3(SDHB):c.19_41dup (p.Pro14_Ala15insSerProTer)	rs1553179340
NM_003000.3(SDHB):c.1A>T (p.Met1Leu)	rs1131691049
NM_003000.3(SDHB):c.200+1G>A	rs2101541309
NM_003000.3(SDHB):c.200+1G>C	rs2101541309
NM_003000.3(SDHB):c.200+5G>C	rs1553178726
NM_003000.3(SDHB):c.201-1G>C
NM_003000.3(SDHB):c.201-2A>C	rs878854574
NM_003000.3(SDHB):c.210dup (p.Met71fs)	rs794728947
NM_003000.3(SDHB):c.22_23del (p.Ser8fs)	rs1060503767
NM_003000.3(SDHB):c.22dup (p.Ser8fs)	rs2101551846
NM_003000.3(SDHB):c.243_246dup (p.Val83Ter)	rs2101528972
NM_003000.3(SDHB):c.249del (p.Asp84fs)	rs2101528951
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser)	rs727504457
NM_003000.3(SDHB):c.26T>A (p.Leu9Ter)	rs786203800
NM_003000.3(SDHB):c.271A>T (p.Arg91Ter)	rs878854575
NM_003000.3(SDHB):c.277T>C (p.Cys93Arg)	rs727503415
NM_003000.3(SDHB):c.286+1G>A	rs786201063
NM_003000.3(SDHB):c.286+2T>A	rs587781270
NM_003000.3(SDHB):c.287-1G>C	rs397516833
NM_003000.3(SDHB):c.287-2A>G	rs1064794270
NM_003000.3(SDHB):c.287-3C>G	rs1553177772
NM_003000.3(SDHB):c.292T>C (p.Cys98Arg)
NM_003000.3(SDHB):c.311delinsGG (p.Asn104fs)	rs786201316
NM_003000.3(SDHB):c.325_335del (p.Asn109fs)	rs2101523248
NM_003000.3(SDHB):c.331_332del (p.Leu111fs)	rs1060503751
NM_003000.3(SDHB):c.338G>A (p.Cys113Tyr)	rs864321636
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)	rs864321636
NM_003000.3(SDHB):c.374C>A (p.Ser125Ter)	rs786203506
NM_003000.3(SDHB):c.374C>G (p.Ser125Ter)	rs786203506
NM_003000.3(SDHB):c.392del (p.Pro131fs)	rs1553177739
NM_003000.3(SDHB):c.395A>C (p.His132Pro)	rs74315372
NM_003000.3(SDHB):c.399dup (p.Tyr134fs)	rs1557741425
NM_003000.3(SDHB):c.3G>A (p.Met1Ile)	rs1131691061
NM_003000.3(SDHB):c.412del (p.Asp138fs)	rs2101522958
NM_003000.3(SDHB):c.413A>G (p.Asp138Gly)	rs1570948527
NM_003000.3(SDHB):c.424-1G>A	rs1131691060
NM_003000.3(SDHB):c.424-2A>G	rs2101521922
NM_003000.3(SDHB):c.42_43insCACTCTCCTTGAGGCGCCGGTTGCCG (p.Ala15delinsHisSerProTer)	rs2101551748
NM_003000.3(SDHB):c.441T>G (p.Tyr147Ter)	rs1060503763
NM_003000.3(SDHB):c.445C>T (p.Gln149Ter)	rs876658451
NM_003000.3(SDHB):c.445_446dup (p.Gln149fs)	rs2101521836
NM_003000.3(SDHB):c.445_446insTATGG (p.Gln149fs)	rs1553177688
NM_003000.3(SDHB):c.450C>G (p.Tyr150Ter)	rs2101521812
NM_003000.3(SDHB):c.466del (p.Tyr156fs)	rs2101521760
NM_003000.3(SDHB):c.470del (p.Tyr156_Leu157insTer)	rs2077999823
NM_003000.3(SDHB):c.473del (p.Lys158fs)
NM_003000.3(SDHB):c.481del (p.Asp161fs)	rs794728949
NM_003000.3(SDHB):c.484G>T (p.Glu162Ter)	rs2101521715
NM_003000.3(SDHB):c.491del (p.Gln164fs)	rs1553177678
NM_003000.3(SDHB):c.499A>T (p.Lys167Ter)	rs1060503753
NM_003000.3(SDHB):c.502C>T (p.Gln168Ter)	rs1553177677
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)	rs1553177676
NM_003000.3(SDHB):c.508dup (p.Tyr170fs)
NM_003000.3(SDHB):c.523dup (p.Glu175fs)	rs2077999421
NM_003000.3(SDHB):c.537dup (p.Leu180fs)	rs1553177669
NM_003000.3(SDHB):c.541-2A>G	rs786201161
NM_003000.3(SDHB):c.553G>T (p.Glu185Ter)	rs1045881797
NM_003000.3(SDHB):c.557G>A (p.Cys186Tyr)	rs1553177440
NM_003000.3(SDHB):c.566G>T (p.Cys189Phe)	rs876658540
NM_003000.3(SDHB):c.572G>A (p.Cys191Tyr)	rs2077978456
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)	rs786202732
NM_003000.3(SDHB):c.575G>A (p.Cys192Tyr)	rs397516835
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)	rs876658367
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)	rs74315367
NM_003000.3(SDHB):c.591del (p.Ser198fs)	rs1060503757
NM_003000.3(SDHB):c.598del (p.Trp200fs)	rs2101516424
NM_003000.3(SDHB):c.598dup (p.Trp200fs)	rs2101516417
NM_003000.3(SDHB):c.600G>A (p.Trp200Ter)	rs397516836
NM_003000.3(SDHB):c.602G>A (p.Trp201Ter)	rs1060503759
NM_003000.3(SDHB):c.605_609dup (p.Asp204fs)	rs1131691050
NM_003000.3(SDHB):c.605dup (p.Asn202fs)	rs1131691053
NM_003000.3(SDHB):c.607G>T (p.Gly203Ter)
NM_003000.3(SDHB):c.607_616del (p.Gly203fs)	rs587782617
NM_003000.3(SDHB):c.608del (p.Gly203fs)	rs1553177436
NM_003000.3(SDHB):c.609_622dup (p.Gly208fs)	rs1570945796
NM_003000.3(SDHB):c.620_621del (p.Leu207fs)	rs1060503752
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
NM_003000.3(SDHB):c.637dup (p.Met213fs)
NM_003000.3(SDHB):c.63dup (p.Cys22fs)	rs1570963451
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)	rs876658461
NM_003000.3(SDHB):c.642+1G>A	rs1131691052
NM_003000.3(SDHB):c.642+2T>G	rs1553177424
NM_003000.3(SDHB):c.649C>G (p.Arg217Gly)	rs200245469
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)	rs1553177290
NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)	rs916516745
NM_003000.3(SDHB):c.656_707dup (p.Asp236_Pro237insAspTer)	rs1570944850
NM_003000.3(SDHB):c.666_667del (p.Arg223_Asp224insTer)
NM_003000.3(SDHB):c.677del (p.Phe226fs)	rs2077968833
NM_003000.3(SDHB):c.680_681del (p.Thr227fs)
NM_003000.3(SDHB):c.683_684del (p.Glu228fs)	rs762812025
NM_003000.3(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs)	rs1209914140
NM_003000.3(SDHB):c.686_687dup (p.Arg230fs)
NM_003000.3(SDHB):c.689G>T (p.Arg230Leu)	rs587782604
NM_003000.3(SDHB):c.697A>T (p.Lys233Ter)	rs1553177285
NM_003000.3(SDHB):c.703C>T (p.Gln235Ter)
NM_003000.3(SDHB):c.70C>T (p.Gln24Ter)	rs1570963430
NM_003000.3(SDHB):c.713del (p.Phe238fs)	rs876660642
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)	rs587781266
NM_003000.3(SDHB):c.717dup (p.Leu240fs)	rs1060503764
NM_003000.3(SDHB):c.718_721del (p.Leu240fs)	rs794728950
NM_003000.3(SDHB):c.71dup (p.Ala25fs)	rs1131691057
NM_003000.3(SDHB):c.72+1G>A	rs587782703
NM_003000.3(SDHB):c.72+1G>T	rs587782703
NM_003000.3(SDHB):c.724C>A (p.Arg242Ser)	rs786203251
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)	rs786203251
NM_003000.3(SDHB):c.743_765+36del	rs2101513438
NM_003000.3(SDHB):c.751_754del (p.Arg251fs)
NM_003000.3(SDHB):c.758G>A (p.Cys253Tyr)	rs786201085
NM_003000.3(SDHB):c.75del (p.Ser26fs)	rs2101541632
NM_003000.3(SDHB):c.761_765+33del	rs2077967597
NM_003000.3(SDHB):c.765+1G>A	rs2101513511
NM_003000.3(SDHB):c.784del (p.Ala262fs)
NM_003000.3(SDHB):c.84_141dup (p.Asp48fs)
NM_003000.3(SDHB):c.88del (p.Gln30fs)	rs747198089
NM_003002.3(SDHD):c.-84_*831del
NM_003002.4(SDHD):c.106C>T (p.Gln36Ter)	rs104894303
NM_003002.4(SDHD):c.10dup (p.Leu4fs)	rs878854589
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter)	rs80338843
NM_003002.4(SDHD):c.113_116dup (p.Ile40fs)	rs1865654197
NM_003002.4(SDHD):c.124_127delinsATA (p.Glu42fs)	rs1865655347
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)	rs104894308
NM_003002.4(SDHD):c.132T>A (p.Cys44Ter)
NM_003002.4(SDHD):c.136_143del (p.Val46fs)
NM_003002.4(SDHD):c.139C>T (p.Gln47Ter)	rs1865655722
NM_003002.4(SDHD):c.13_14del (p.Trp5fs)	rs1566690018
NM_003002.4(SDHD):c.147dup (p.His50fs)	rs876659130
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter)	rs104894310
NM_003002.4(SDHD):c.14_30del (p.Trp5fs)
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter)	rs587782210
NM_003002.4(SDHD):c.15G>A (p.Trp5Ter)
NM_003002.4(SDHD):c.169+1G>A	rs2135267557
NM_003002.4(SDHD):c.169+1G>T	rs2135267557
NM_003002.4(SDHD):c.170-1G>T	rs1306475361
NM_003002.4(SDHD):c.170-2A>G
NM_003002.4(SDHD):c.173del (p.Gly58fs)	rs878854590
NM_003002.4(SDHD):c.18_21del (p.Leu7fs)	rs1555186662
NM_003002.4(SDHD):c.191_192del (p.Leu64fs)	rs387906358
NM_003002.4(SDHD):c.198G>A (p.Trp66Ter)
NM_003002.4(SDHD):c.1A>G (p.Met1Val)	rs104894307
NM_003002.4(SDHD):c.204_205del (p.Ser68fs)	rs1865686266
NM_003002.4(SDHD):c.205G>T (p.Glu69Ter)
NM_003002.4(SDHD):c.224del (p.Leu75fs)	rs2135269378
NM_003002.4(SDHD):c.239T>G (p.Leu80Arg)	rs1555187010
NM_003002.4(SDHD):c.241_262del (p.Pro81fs)
NM_003002.4(SDHD):c.242del (p.Pro81fs)	rs878854591
NM_003002.4(SDHD):c.264C>A (p.Cys88Ter)
NM_003002.4(SDHD):c.273_274dup (p.Asp92fs)
NM_003002.4(SDHD):c.281_282insAATA (p.Leu95fs)	rs2135269697
NM_003002.4(SDHD):c.283del (p.Leu95fs)	rs2135269692
NM_003002.4(SDHD):c.288del (p.Ala97fs)	rs2135269740
NM_003002.4(SDHD):c.298_301del (p.Thr100fs)	rs786203067
NM_003002.4(SDHD):c.2T>C (p.Met1Thr)
NM_003002.4(SDHD):c.305A>G (p.His102Arg)	rs104894302
NM_003002.4(SDHD):c.305A>T (p.His102Leu)	rs104894302
NM_003002.4(SDHD):c.314+1G>A	rs1555187083
NM_003002.4(SDHD):c.314+1G>T	rs1555187083
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter)	rs1131691065
NM_003002.4(SDHD):c.315-2A>T
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter)	rs1060503769
NM_003002.4(SDHD):c.317G>A (p.Gly106Asp)	rs1555187574
NM_003002.4(SDHD):c.317G>T (p.Gly106Val)	rs1555187574
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)	rs876658477
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter)	rs1060503770
NM_003002.4(SDHD):c.336dup (p.Asp113Ter)	rs1555187583
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)	rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)	rs104894309
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys)	rs104894304
NM_003002.4(SDHD):c.341_342del (p.Tyr114fs)
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter)	rs1050032491
NM_003002.4(SDHD):c.352del (p.Asp118fs)	rs1131691064
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)	rs878854594
NM_003002.4(SDHD):c.381del (p.Leu128fs)	rs1555187601
NM_003002.4(SDHD):c.383_386dup (p.Leu129fs)	rs864321644
NM_003002.4(SDHD):c.388dup (p.Ala130fs)	rs1131691063
NM_003002.4(SDHD):c.394del (p.Ser132fs)	rs1060503773
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)	rs80338842
NM_003002.4(SDHD):c.3G>C (p.Met1Ile)	rs80338842
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)	rs1314133983
NM_003002.4(SDHD):c.52+1G>A	rs1592777386
NM_003002.4(SDHD):c.52+2T>C	rs587776644
NM_003002.4(SDHD):c.53dup (p.Leu19fs)	rs886041237
NM_003002.4(SDHD):c.57del (p.Leu20fs)	rs587776649
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)	rs104894306
NM_003002.4(SDHD):c.94_95del (p.Ala33fs)	rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter)	rs104894305
Single allele

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