List of variants reported as likely pathogenic for benign endocrine neoplasm

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 108

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HGVS	dbSNP	gnomAD frequency
NM_017849.4(TMEM127):c.268G>A (p.Val90Met)	rs121908823	0.00264
NM_017849.4(TMEM127):c.208G>A (p.Asp70Asn)	rs121908819	0.00073
NM_017849.4(TMEM127):c.280C>T (p.Arg94Trp)	rs121908824	0.00006
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)	rs570278423	0.00004
NM_017849.4(TMEM127):c.217G>C (p.Gly73Arg)	rs121908820	0.00004
NM_017849.4(TMEM127):c.245-1G>C	rs121908821	0.00004
NM_003000.3(SDHB):c.650G>A (p.Arg217His)	rs747518441	0.00003
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)	rs146646971	0.00003
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu)	rs749673816	0.00001
NM_003000.3(SDHB):c.744C>G (p.Asn248Lys)	rs1131691058	0.00001
NM_003002.4(SDHD):c.53-1G>T	rs1291507545	0.00001
NM_017849.4(TMEM127):c.158G>C (p.Trp53Ser)	rs121908818	0.00001
NC_000001.10:g.(?_17349093)_(17350579_?)del
NC_000001.10:g.(?_17349097)_(17359646_?)dup
NC_000001.10:g.(?_17354234)_(17359650_?)dup
NC_000001.10:g.(?_17359545)_(17359650_?)dup
NC_000001.10:g.(?_17371256)_(17371383_?)dup
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)	rs1057518933
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His)	rs371717826
NM_000545.8(HNF1A):c.1310-2A>G	rs2135847311
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del)	rs1288094664
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser)	rs864321643
NM_000551.4(VHL):c.319C>G (p.Arg107Gly)	rs397516440
NM_000551.4(VHL):c.479A>T (p.Glu160Val)	rs864321641
NM_000551.4(VHL):c.509T>C (p.Val170Ala)	rs864321642
NM_000551.4(VHL):c.548C>G (p.Ser183Trp)	rs5030823
NM_000551.4(VHL):c.588dup (p.Asp197fs)	rs864321640
NM_002382.5(MAX):c.55C>T (p.Gln19Ter)	rs2139963878
NM_003000.2(SDHB):c.201-?_765+?dup
NM_003000.3(SDHB):c.120G>C (p.Lys40Asn)	rs1570958090
NM_003000.3(SDHB):c.127G>C (p.Ala43Pro)
NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg)	rs864321639
NM_003000.3(SDHB):c.200+5G>T	rs1553178726
NM_003000.3(SDHB):c.203G>A (p.Cys68Tyr)	rs587782904
NM_003000.3(SDHB):c.206G>T (p.Gly69Val)	rs2101529108
NM_003000.3(SDHB):c.221A>G (p.Asp74Gly)
NM_003000.3(SDHB):c.227T>G (p.Leu76Ter)	rs864321638
NM_003000.3(SDHB):c.251A>C (p.Asp84Ala)	rs864321637
NM_003000.3(SDHB):c.258_260dup (p.Thr86_Leu87insPhe)	rs2101528919
NM_003000.3(SDHB):c.269G>T (p.Arg90Leu)	rs570278423
NM_003000.3(SDHB):c.278G>A (p.Cys93Tyr)
NM_003000.3(SDHB):c.286G>T (p.Gly96Cys)	rs587782243
NM_003000.3(SDHB):c.287-10_295del
NM_003000.3(SDHB):c.289A>T (p.Ile97Phe)	rs1553177769
NM_003000.3(SDHB):c.293G>A (p.Cys98Tyr)	rs1553177768
NM_003000.3(SDHB):c.296G>A (p.Gly99Asp)	rs878854576
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser)	rs864321636
NM_003000.3(SDHB):c.412G>T (p.Asp138Tyr)	rs786203529
NM_003000.3(SDHB):c.540+1G>A	rs1553177667
NM_003000.3(SDHB):c.540_540+13del	rs1553177666
NM_003000.3(SDHB):c.566G>A (p.Cys189Tyr)
NM_003000.3(SDHB):c.567T>G (p.Cys189Trp)	rs2101516550
NM_003000.3(SDHB):c.586T>C (p.Cys196Arg)	rs2101516484
NM_003000.3(SDHB):c.589C>T (p.Pro197Ser)	rs2077978300
NM_003000.3(SDHB):c.598T>C (p.Trp200Arg)	rs1557739966
NM_003000.3(SDHB):c.641A>G (p.Gln214Arg)	rs781590955
NM_003000.3(SDHB):c.642_642+6del	rs876660368
NM_003000.3(SDHB):c.650G>T (p.Arg217Leu)	rs747518441
NM_003000.3(SDHB):c.729C>G (p.Cys243Trp)	rs2101513669
NM_003000.3(SDHB):c.73-1G>A	rs1131691055
NM_003000.3(SDHB):c.73-1G>T	rs1131691055
NM_003000.3(SDHB):c.73-2A>T	rs1474282888
NM_003000.3(SDHB):c.756_765+4del	rs1553177267
NM_003000.3(SDHB):c.780dup (p.Lys261fs)	rs1557738304
NM_003000.3(SDHB):c.784_787dup (p.Ile263fs)	rs1553176976
NM_003000.3(SDHB):c.785_786insG (p.Ile263fs)	rs1553176979
NM_003002.4(SDHD):c.147dup (p.His50fs)	rs876659130
NM_003002.4(SDHD):c.148C>G (p.His50Asp)	rs779249550
NM_003002.4(SDHD):c.197_198delinsAA (p.Trp66Ter)
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)	rs786205436
NM_003002.4(SDHD):c.304C>A (p.His102Asn)	rs786202403
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)	rs786202403
NM_003002.4(SDHD):c.305A>C (p.His102Pro)	rs104894302
NM_003002.4(SDHD):c.315-1G>A	rs1555187566
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)	rs876658477
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)	rs876659276
NM_003002.4(SDHD):c.361C>T (p.Gln121Ter)	rs878854594
NM_003002.4(SDHD):c.386del (p.Leu129fs)	rs864321644
NM_003002.4(SDHD):c.394del (p.Ser132fs)	rs1060503773
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg)	rs786203932
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)	rs1401695686
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)	rs1401695686
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)	rs80338847
NM_003002.4(SDHD):c.44_52+24del	rs1865621296
NM_003002.4(SDHD):c.52+1_52+2delinsAA
NM_003002.4(SDHD):c.52+2T>G	rs587776644
NM_003002.4(SDHD):c.53-1_53delinsTT	rs1566691921
NM_003002.4(SDHD):c.53-2A>C
NM_017849.4(TMEM127):c.-18C>T	rs121908813
NM_017849.4(TMEM127):c.117_120del (p.Ile41fs)	rs121908816
NM_017849.4(TMEM127):c.149dup (p.Pro51fs)	rs121908817
NM_017849.4(TMEM127):c.185C>A (p.Ser62Ter)
NM_017849.4(TMEM127):c.208del (p.Asp70fs)
NM_017849.4(TMEM127):c.230del (p.Pro77fs)
NM_017849.4(TMEM127):c.245-1G>T	rs121908821
NM_017849.4(TMEM127):c.265_268del (p.Thr89fs)	rs121908822
NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)
NM_017849.4(TMEM127):c.3G>T (p.Met1Ile)	rs121908814
NM_017849.4(TMEM127):c.409+1G>T	rs121908825
NM_017849.4(TMEM127):c.410-2A>C	rs121908826
NM_017849.4(TMEM127):c.418T>C (p.Cys140Arg)	rs121908827
NM_017849.4(TMEM127):c.419G>A (p.Cys140Tyr)	rs121908828
NM_017849.4(TMEM127):c.447G>A (p.Trp149Ter)	rs121908829
NM_017849.4(TMEM127):c.475C>T (p.Gln159Ter)	rs121908830
NM_017849.4(TMEM127):c.627_640dup (p.Met214fs)	rs121908831
NM_017849.4(TMEM127):c.76C>T (p.Gln26Ter)	rs121908815
NM_020975.6(RET):c.1947G>A (p.Ser649=)	rs377767412
NM_020975.6(RET):c.1998G>C (p.Lys666Asn)	rs146646971

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