List of variants reported as pathogenic for Gastrointestinal stromal tumor

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

Total variants: 89

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HGVS	dbSNP	gnomAD frequency
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)	rs142441643	0.00025
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_003001.5(SDHC):c.43C>T (p.Arg15Ter)	rs201286421	0.00002
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.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.689G>A (p.Arg230His)	rs587782604	0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His)	rs74315368	0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg)	rs786203457	0.00001
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)	rs764575966	0.00001
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)	rs151170408	0.00001
NC_000004.11:g.(?_55124936)_(57786056_?)del
NC_000004.11:g.(?_55522488)_(55524258_?)del
NC_000004.11:g.(?_55524176)_(55604729_?)del
NC_000004.11:g.(?_55569880)_(55570068_?)del
NC_000004.11:g.(?_55602654)_(55604723_?)del
NC_000004.12:g.54727416_54727442del	rs121913234
NM_000222.3(KIT):c.1000_1003dup (p.Val335fs)	rs2109705287
NM_000222.3(KIT):c.108_109insT (p.Pro37fs)	rs1553887262
NM_000222.3(KIT):c.1126G>T (p.Glu376Ter)	rs1720997965
NM_000222.3(KIT):c.1168dup (p.Tyr390fs)	rs1721001014
NM_000222.3(KIT):c.120_123dup (p.Gly42fs)	rs1161473997
NM_000222.3(KIT):c.1253_1254insAA (p.Tyr418Ter)
NM_000222.3(KIT):c.1482C>A (p.Tyr494Ter)	rs771092774
NM_000222.3(KIT):c.1494del (p.Lys499fs)
NM_000222.3(KIT):c.1526A>T (p.Lys509Ile)	rs1577992594
NM_000222.3(KIT):c.1649_1663del (p.Lys550_Val555delinsIle)
NM_000222.3(KIT):c.1652_1666del (p.Pro551_Val555del)	rs587776804
NM_000222.3(KIT):c.1666C>T (p.Gln556Ter)	rs1722301014
NM_000222.3(KIT):c.1670G>A (p.Trp557Ter)	rs1057520032
NM_000222.3(KIT):c.1676T>A (p.Val559Asp)	rs121913517
NM_000222.3(KIT):c.1676_1681del (p.Val559_Val560del)	rs121913685
NM_000222.3(KIT):c.1735_1737del (p.Asp579del)	rs1060502543
NM_000222.3(KIT):c.1861G>A (p.Ala621Thr)	rs1560418178
NM_000222.3(KIT):c.1924A>G (p.Lys642Glu)	rs121913512
NM_000222.3(KIT):c.1965T>A (p.Asn655Lys)	rs1057519708
NM_000222.3(KIT):c.1990+1del	rs2109782285
NM_000222.3(KIT):c.2080C>T (p.Gln694Ter)	rs1722443590
NM_000222.3(KIT):c.2139del (p.Cys714fs)
NM_000222.3(KIT):c.2152_2153del (p.Ser717_Thr718insTer)	rs1560420761
NM_000222.3(KIT):c.2446_2447del (p.Asp816fs)
NM_000222.3(KIT):c.2454del (p.Asn819fs)	rs1060502521
NM_000222.3(KIT):c.2458G>T (p.Asp820Tyr)	rs1057519710
NM_000222.3(KIT):c.2466T>G (p.Asn822Lys)	rs121913514
NM_000222.3(KIT):c.32_33insG (p.Cys12fs)
NM_000222.3(KIT):c.364del (p.Arg122fs)	rs2109671915
NM_000222.3(KIT):c.366_369del (p.Ser123fs)	rs2109671956
NM_000222.3(KIT):c.389del (p.Asn130fs)	rs1560395607
NM_000222.3(KIT):c.568C>T (p.Gln190Ter)	rs1720236510
NM_000222.3(KIT):c.604del (p.Ile201_Leu202insTer)
NM_000222.3(KIT):c.673del (p.Glu225fs)
NM_000222.3(KIT):c.753_756del (p.Ser251fs)	rs1553887960
NM_000222.3(KIT):c.756+1G>A	rs1301704156
NM_000222.3(KIT):c.761_765del (p.Lys254fs)
NM_000222.3(KIT):c.828_832dup (p.Ser278fs)
NM_000222.3(KIT):c.86_87del (p.Val29fs)
NM_000222.3(KIT):c.959del (p.Asn320fs)
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)	rs786202100
NM_003000.3(SDHB):c.286+1G>A	rs786201063
NM_003000.3(SDHB):c.286+2T>A	rs587781270
NM_003000.3(SDHB):c.541-2A>G	rs786201161
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)	rs786202732
NM_003000.3(SDHB):c.591del (p.Ser198fs)	rs1060503757
NM_003000.3(SDHB):c.623G>A (p.Gly208Glu)
NM_003000.3(SDHB):c.654G>A (p.Trp218Ter)	rs916516745
NM_003000.3(SDHB):c.713del (p.Phe238fs)	rs876660642
NM_003000.3(SDHB):c.72+1G>T	rs587782703
NM_003000.3(SDHB):c.724C>T (p.Arg242Cys)	rs786203251
NM_003001.5(SDHC):c.405+1G>A	rs587776653
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)	rs1734957331
NM_004168.4(SDHA):c.457-2_457del	rs878854632
NM_004168.4(SDHA):c.526C>T (p.Gln176Ter)	rs2126549741
NM_004168.4(SDHA):c.628C>T (p.Arg210Ter)	rs775143272
NM_004168.4(SDHA):c.770G>C (p.Gly257Ala)	rs749566947
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	rs113488022
NM_006206.6(PDGFRA):c.1679_1693del (p.Arg560_Ser564del)	rs587776795
NM_006206.6(PDGFRA):c.1681_1682insAGAGGG (p.Arg560_Val561insGluArg)	rs587776794
NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp)	rs121908586
NM_006206.6(PDGFRA):c.1696_1713del (p.Ser566_Glu571del)	rs606231209
NM_006206.6(PDGFRA):c.1977C>A (p.Asn659Lys)	rs1057519700
NM_006206.6(PDGFRA):c.1977C>G (p.Asn659Lys)	rs1057519700
NM_006206.6(PDGFRA):c.2525A>T (p.Asp842Val)	rs121908585
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del)	rs1553906053
NM_006206.6(PDGFRA):c.2533_2544del (p.His845_Asn848del)	rs587776793

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