ClinVar Miner

List of variants reported as likely pathogenic for benign endocrine neoplasm

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
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HGVS dbSNP
NC_000001.10:g.(?_17349097)_(17359646_?)dup
NC_000001.10:g.(?_17356590_17359633del
NC_000011.9:g.(?_111959651_111960112del
NM_000388.4(CASR):c.2449G>A (p.Val817Ile) rs1057518933
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.3(VHL):c.509T>C (p.Val170Ala) rs864321642
NM_000551.3(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.3(VHL):c.588dupA (p.Asp197Argfs) rs864321640
NM_000551.4(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_001193304.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_001193304.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_001193304.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_003000.2(SDHB):c.120G>C (p.Lys40Asn) rs1570958090
NM_003000.2(SDHB):c.131_139del (p.Ile44_Trp47delinsArg) rs864321639
NM_003000.2(SDHB):c.137G>T (p.Arg46Leu) rs772551056
NM_003000.2(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.2(SDHB):c.201-2A>C rs878854574
NM_003000.2(SDHB):c.201-?_765+?dup
NM_003000.2(SDHB):c.227T>G (p.Leu76Ter) rs864321638
NM_003000.2(SDHB):c.251A>C (p.Asp84Ala) rs864321637
NM_003000.2(SDHB):c.286G>A (p.Gly96Ser) rs587782243
NM_003000.2(SDHB):c.289A>T (p.Ile97Phe) rs1553177769
NM_003000.2(SDHB):c.293G>A (p.Cys98Tyr) rs1553177768
NM_003000.2(SDHB):c.296G>A (p.Gly99Asp) rs878854576
NM_003000.2(SDHB):c.338G>C (p.Cys113Ser) rs864321636
NM_003000.2(SDHB):c.3G>A (p.Met1Ile) rs1131691061
NM_003000.2(SDHB):c.424-1G>A rs1131691060
NM_003000.2(SDHB):c.540+1G>A rs1553177667
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
NM_003000.2(SDHB):c.642+2T>G rs1553177424
NM_003000.2(SDHB):c.649C>T (p.Arg217Cys) rs200245469
NM_003000.2(SDHB):c.73-1G>A rs1131691055
NM_003000.2(SDHB):c.73-1G>T rs1131691055
NM_003000.2(SDHB):c.758G>A (p.Cys253Tyr) rs786201085
NM_003000.2(SDHB):c.780dup (p.Lys261fs) rs1557738304
NM_003000.2(SDHB):c.784_787dup (p.Ile263fs) rs1553176976
NM_003000.2(SDHB):c.785_786insG (p.Ile263fs) rs1553176979
NM_003000.3(SDHB):c.143A>T rs202101384
NM_003000.3(SDHB):c.200+1G>C
NM_003000.3(SDHB):c.260T>C (p.Leu87Ser) rs727504457
NM_003000.3(SDHB):c.424-2A>G
NM_003000.3(SDHB):c.540_540+13del rs1553177666
NM_003000.3(SDHB):c.557G>A (p.Cys186Tyr)
NM_003002.3(SDHD):c.386delT rs864321644
NM_003002.4(SDHD):c.148C>G (p.His50Asp) rs779249550
NM_003002.4(SDHD):c.304C>A (p.His102Asn) rs786202403
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)
NM_003002.4(SDHD):c.314+1G>A rs1555187083
NM_003002.4(SDHD):c.314+1G>T rs1555187083
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.394del (p.Ser132fs) rs1060503773
NM_003002.4(SDHD):c.412G>A (p.Gly138Arg) rs786203932
NM_003002.4(SDHD):c.44_52+24del
NM_003002.4(SDHD):c.52+2T>C rs587776644
NM_003002.4(SDHD):c.53-1G>T
NM_003002.4(SDHD):c.53-1_53delinsTT rs1566691921
NM_017849.3(TMEM127):c.-18C>T rs121908813
NM_017849.3(TMEM127):c.149dup (p.Pro51fs) rs121908817
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.245-1G>C rs121908821
NM_017849.3(TMEM127):c.245-1G>T rs121908821
NM_017849.3(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.409+1G>T rs121908825
NM_017849.3(TMEM127):c.410-2A>C rs121908826
NM_017849.3(TMEM127):c.418T>C (p.Cys140Arg) rs121908827
NM_017849.3(TMEM127):c.419G>A (p.Cys140Tyr) rs121908828
NM_017849.3(TMEM127):c.447G>A (p.Trp149Ter) rs121908829
NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.3(TMEM127):c.627_640dup (p.Met214fs) rs121908831
NM_017849.3(TMEM127):c.76C>T (p.Gln26Ter) rs121908815
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412

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