KIT — 3161 ClinVar variants

All ClinVar germline KIT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1595 flagged for review →

69 Pathogenic · 6 Pathogenic/Likely pathogenic · 33 Likely pathogenic · 204 Conflicting · 47 Benign · 26 Benign/Likely benign · 1173 Likely benign · 1603 Uncertain significance

Full KIT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1595

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

KIT p.Lys509Ile Pathogenic Single submitter
gastrointestinal stromal tumor

Predictors agree, ClinVar conflicts 106

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

KIT p.Ala168Val Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ala178Ser Conflicting Single submitter
KIT-related disorder
KIT p.Ala178Thr Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ala178Val Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ala219Thr Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ala401Thr Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ala404Thr Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ala431Ser Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ala698Gly Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ala755Thr Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ala784Thr Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Arg19Ser Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Arg281Lys Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Arg281Thr Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Arg49His Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Arg946Gln Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Arg946Pro Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asn105Ser Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Asn293Ser Conflicting Single submitter
piebaldism
KIT p.Asn370Ser Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asn410Thr Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Asn512Asp Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asn512Ser Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Asn77Lys Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asn77Ser Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asn80Lys Conflicting Single submitter
ovarian cancer
KIT p.Asn80Ser Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Asn822Lys Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asn933Ser Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asn958Ser Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asp129Glu Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asp129Gly Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Asp458Asn Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asp496Asn Conflicting Single submitter
KIT-related disorder
KIT p.Asp52Asn Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asp52Gly Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Asp816Val Conflicting Single submitter
cutaneous mastocytosis
KIT p.Asp974Asn Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Asp975Asn Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Asp9Asn Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Cys136Arg Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Gln152Glu Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Gln190Arg Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Gln21Arg Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Glu306Lys Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Glu53Lys Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Glu930Asp Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Gly466Arg Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Gly470Glu Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Gly528Ser Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Gly565Val Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.His101Tyr Conflicting Single submitter
piebaldism
KIT p.His185Gln Conflicting Single submitter
piebaldism
KIT p.His264Arg Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.His517Tyr Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.His697Tyr Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.His934Arg Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.His934Gln Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ile235Val Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ile349Val Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ile403Val Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ile539Leu Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ile539Val Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ile662Val Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ile744Thr Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ile748Thr Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ile928Val Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ile935Val Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Leu117Ile Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Leu160Met Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Leu702Val Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Lys167Arg Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Lys176Arg Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Lys471Gln Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Lys738Arg Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Lys926Gln Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Met171Thr Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Met171Val Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Met289Ile Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Met318Val Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Met535Ile Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Met535Thr Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Met651Leu Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Pro155Leu Conflicting Single submitter
Gastrointestinal stromal tumor, familial
KIT p.Pro467Ser Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Pro468Leu Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Pro949His Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ser123Phe Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ser197Leu Conflicting Single submitter
piebaldism
KIT p.Ser38Thr Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ser451Pro Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ser451Thr Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ser477Phe Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Thr144Ser Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Thr245Ala Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Thr245Met Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Thr500Ser Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Thr594Ile Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Thr963Ser Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Tyr553Ser Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Tyr855Cys Conflicting Single submitter
cutaneous mastocytosis
KIT p.Val188Ala Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Val422Met Conflicting Single submitter
piebaldism
KIT p.Val50Leu Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Val530Ile Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Val532Ile Conflicting Single submitter
hereditary neoplastic syndrome

Predicted LoF vs a conflicting call 9

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

KIT c.1990+1del Conflicting Single submitter
hereditary neoplastic syndrome
KIT c.757-1G>A Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Arg946Ter Conflicting Single submitter
piebaldism
KIT p.Gln448Ter Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Glu514Ter Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Gly42fs Conflicting Single submitter
gastrointestinal stromal tumor
KIT p.Ile748fs Conflicting Single submitter
piebaldism
KIT p.Leu11fs Conflicting Single submitter
hereditary neoplastic syndrome
KIT p.Ser251fs Conflicting Single submitter
hereditary neoplastic syndrome

Predictors lean, ClinVar uncertain 909

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 909

KIT p.Ala168Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala168Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala210Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala273Thr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ala402Thr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ala430Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala482Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala482Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala482Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala482Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala4Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala4Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala4Val Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ala502Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala507Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala533Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala533Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala616Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala616Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala617Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala629Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala698Glu Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ala698Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala698Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala700Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala755Val Uncertain significance Multiple submitters
KIT-related disorder
KIT p.Ala763Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala781Thr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ala795Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala7Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ala7Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala7Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala895Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala895Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala897Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala909Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ala940Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala964Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg161Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg177Cys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg181Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg19His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg420Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg49Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg55Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg5Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg634Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg634Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg634Trp Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg686Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg686Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg739Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg750Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg804Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg804Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg830Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg830Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg888Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg956Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn130Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn250Asp Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn294Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn300Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn314Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn326Lys Uncertain significance Multiple submitters
cutaneous mastocytosis
KIT p.Asn406Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn410Tyr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn486Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn511Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn512Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn567Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn587Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn652His Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn655Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn680Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn719Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn828Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn933Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp113Gly Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp266His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp357Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp357Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp361Asn Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp361Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp419Asn Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp439Gly Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp458Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp45Asn Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp579Val Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp696Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp696Val Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp716Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp716Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp723His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp72Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp737Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp759Asn Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp760Val Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp765Glu Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp765Tyr Uncertain significance Multiple submitters
KIT-related disorder
KIT p.Asp816Asn Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp876Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp952Asn Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp975Glu Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp975Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp975His Uncertain significance Multiple submitters
mastocytosis
KIT p.Cys691Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Cys714Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Cys788Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Cys844Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Cys906Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln152Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln190Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln21Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln256Arg Uncertain significance Multiple submitters
acute myeloid leukemia
KIT p.Gln26Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln26Glu Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Gln272Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln346Glu Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Gln427Arg Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Gln427Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln448His Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Gln775His Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Gln919Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln919Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln922Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln927His Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Glu225Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu306Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu376Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu435Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu561Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Glu605Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu695Gln Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Glu695Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Glu711Asp Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Glu711Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu711Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu711Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Glu761Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu767Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu81Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Glu849Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu861Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu861Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu893Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu898Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu925Gly Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Gly265Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gly32Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome

Predictors split 570

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 570

KIT p.Ala168Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala292Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala292Val Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ala430Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ala597Thr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg112Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg135Cys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg135His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg135Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg161Gly Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg224Gly Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg271Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg271His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Arg684Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg686His Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Arg804Gln Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn320Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn326Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn352Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn352Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn396Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn423Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn564Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn566Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn567His Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn822Thr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn828Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn938His Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asn938Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asn99Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp129His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp131Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp159His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp165His Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp332Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp419Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp419His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp419Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp716Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp759Gly Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp759Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp765Gly Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Asp876Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Asp910Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Cys443Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Cys537Tyr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Cys844Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln427His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gln919His Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu414Gln Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Glu53Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu749Val Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Glu758Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu767Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Glu898Lys Uncertain significance Multiple submitters
cutaneous mastocytosis
KIT p.Glu925Gln Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Glu930Lys Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Gly192Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gly226Glu Uncertain significance Multiple submitters
piebaldism
KIT p.Gly265Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gly311Ala Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Gly466Trp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gly51Asp Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Gly51Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.His180Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.His485Pro Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ile163Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile170Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile201Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile277Leu Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ile277Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile315Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile315Thr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ile315Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile47Thr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ile527Met Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile542Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile563Lys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile563Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile662Thr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ile902Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile924Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ile935Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Leu11Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Leu133Val Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Leu156Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Leu15Phe Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Leu15Pro Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Leu160Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Leu17Pro Uncertain significance Multiple submitters
hereditary breast ovarian cancer syndrome
KIT p.Leu184Met Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Leu18Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Leu223Arg Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Leu255Pro Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Leu377Val Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Leu421Ile Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Leu462Pro Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Leu793Val Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Leu890Phe Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Leu971Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Lys158Arg Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Lys158Met Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Lys158Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Lys546Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Lys546Ile Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Lys65Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Lys65Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Lys86Glu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Lys881Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Lys884Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Lys94Gln Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Met351Val Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Met651Lys Uncertain significance Multiple submitters
piebaldism
KIT p.Met651Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Met873Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Phe229Leu Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Phe340Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Phe433Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Phe469Leu Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Phe522Ile Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Phe63Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Phe858Cys Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Pro114Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Pro114Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Pro36Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Pro41Ala Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Pro61Arg Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Pro627Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Pro627Thr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Pro754Arg Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Pro896Ala Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Pro911Ser Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Pro969Ala Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Pro969Ser Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ser174Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ser251Gly Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ser278Ile Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ser30Ile Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ser395Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ser395Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ser397Phe Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ser397Tyr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ser451Phe Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ser453Phe Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ser476Gly Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ser476Thr Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ser713Tyr Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ser717Ile Uncertain significance Multiple submitters
gastrointestinal stromal tumor
KIT p.Ser771Asn Uncertain significance Multiple submitters
hereditary neoplastic syndrome
KIT p.Ser785Ala Uncertain significance Multiple submitters
gastrointestinal stromal tumor

All KIT variants

Pathogenic 69

p.Asp816His Multiple submitters dysgerminoma
p.Asp820Tyr Multiple submitters hereditary neoplastic syndrome
p.Gln190Ter Multiple submitters KIT-related disorder
p.Lys642Glu Multiple submitters gastrointestinal stromal tumor
p.Trp557Ter Multiple submitters gastrointestinal stromal tumor
c.1879+1G>A Single submitter gastrointestinal stromal tumor
c.1880-1G>A Single submitter piebaldism
c.2484+1G>A Single submitter
c.620-2A>G Single submitter
c.756+1G>A Single submitter gastrointestinal stromal tumor
p.Ala273fs Single submitter gastrointestinal stromal tumor
p.Ala597fs Single submitter gastrointestinal stromal tumor
p.Ala829Pro Single submitter gastrointestinal stromal tumor
p.Arg122fs Single submitter gastrointestinal stromal tumor
p.Asn130fs Single submitter gastrointestinal stromal tumor
p.Asn320fs Single submitter gastrointestinal stromal tumor
p.Asn655Lys Single submitter gastrointestinal stromal tumor
p.Asn80fs Single submitter piebaldism
p.Asp816fs Single submitter gastrointestinal stromal tumor
p.Cys12fs Single submitter gastrointestinal stromal tumor
p.Cys428fs Single submitter gastrointestinal stromal tumor
p.Cys714fs Single submitter gastrointestinal stromal tumor
p.Gln346Ter Single submitter gastrointestinal stromal tumor
p.Gln556Ter Single submitter gastrointestinal stromal tumor
p.Gln694Ter Single submitter gastrointestinal stromal tumor
p.Glu225fs Single submitter gastrointestinal stromal tumor
p.Glu376Ter Single submitter gastrointestinal stromal tumor
p.Glu839fs Single submitter gastrointestinal stromal tumor
p.Ile201_Leu202insTer Single submitter gastrointestinal stromal tumor
p.Ile808Met Single submitter piebaldism
p.Leu769fs Single submitter gastrointestinal stromal tumor
p.Lys254fs Single submitter gastrointestinal stromal tumor
p.Lys499fs Single submitter gastrointestinal stromal tumor
p.Lys509Ile Single submitter gastrointestinal stromal tumor ⚠
p.Lys735fs Single submitter gastrointestinal stromal tumor
p.Phe863_Ser864insTer Single submitter
p.Pro212fs Single submitter gastrointestinal stromal tumor
p.Pro37fs Single submitter gastrointestinal stromal tumor
p.Pro577fs Single submitter gastrointestinal stromal tumor
p.Ser123fs Single submitter gastrointestinal stromal tumor
p.Ser278fs Single submitter gastrointestinal stromal tumor
p.Ser688fs Single submitter hereditary neoplastic syndrome
p.Ser717_Thr718insTer Single submitter gastrointestinal stromal tumor
p.Thr806fs Single submitter piebaldism
p.Trp8fs Single submitter
p.Tyr146Ter Single submitter gastrointestinal stromal tumor
p.Tyr390fs Single submitter gastrointestinal stromal tumor
p.Tyr418Ter Single submitter gastrointestinal stromal tumor
p.Tyr494Ter Single submitter gastrointestinal stromal tumor
p.Tyr900Ter Single submitter piebaldism
p.Val29fs Single submitter gastrointestinal stromal tumor
p.Val335fs Single submitter gastrointestinal stromal tumor
p.Val643fs Single submitter gastrointestinal stromal tumor
p.Ala533Asp No assertion criteria cutaneous mastocytosis
p.Arg796Gly No assertion criteria Piebaldism with sensorineural deafness
p.Asn822Ile No assertion criteria cutaneous mastocytosis
p.Glu561fs No assertion criteria piebaldism
p.Glu839Lys No assertion criteria mastocytosis
p.Glu85fs No assertion criteria piebaldism
p.Gly664Arg No assertion criteria piebaldism
p.Lys550_Val555delinsIle No assertion criteria gastrointestinal stromal tumor
p.Lys642fs No assertion criteria piebaldism
p.Phe584Cys No assertion criteria piebaldism
p.Pro551_Val555del No assertion criteria gastrointestinal stromal tumor
p.Thr847Pro No assertion criteria piebaldism
p.Val559_Val560del No assertion criteria gastrointestinal stromal tumor
p.Val559Asp No assertion criteria gastrointestinal stromal tumor
p.Val560del No assertion criteria Gastrointestinal stromal tumor, familial
p.Val620Ala No assertion criteria Piebaldism, progressive

Pathogenic/Likely pathogenic 6

p.Ala621Thr Multiple submitters gastrointestinal stromal tumor
p.Asn819fs Multiple submitters gastrointestinal stromal tumor
p.Asp579del Multiple submitters hereditary neoplastic syndrome
p.Leu576Pro Multiple submitters hereditary neoplastic syndrome
p.Trp557Arg Multiple submitters hereditary neoplastic syndrome
p.Val559Ala Multiple submitters hereditary neoplastic syndrome

Likely pathogenic 33

c.1232-1G>A Single submitter gastrointestinal stromal tumor
c.1540+1G>A Single submitter gastrointestinal stromal tumor
c.1540+1G>T Single submitter gastrointestinal stromal tumor
c.1540+2del Single submitter gastrointestinal stromal tumor
c.1540+2T>C Single submitter gastrointestinal stromal tumor
c.1541-1G>A Single submitter gastrointestinal stromal tumor
c.1774+1G>T Single submitter gastrointestinal stromal tumor
c.1775-2A>G Single submitter gastrointestinal stromal tumor
c.2142-1G>A Single submitter gastrointestinal stromal tumor
c.2142-2A>G Single submitter gastrointestinal stromal tumor
c.2362-1G>A Single submitter gastrointestinal stromal tumor
c.757-2A>T Single submitter gastrointestinal stromal tumor
c.840_925+649del Single submitter gastrointestinal stromal tumor
p.Ala608Asp Single submitter gastrointestinal stromal tumor
p.Arg588_Leu589insProGlnLeuProTyrAspHisLysTrpGluPheProArgAsnArg Single submitter gastrointestinal stromal tumor
p.Gln427Ter Single submitter
p.Gln549His Single submitter piebaldism
p.Gln556_Trp557insTer Single submitter gastrointestinal stromal tumor
p.Gln575_Leu589dup Single submitter gastrointestinal stromal tumor
p.Glu249fs Single submitter piebaldism
p.Glu583Lys Single submitter gastrointestinal stromal tumor
p.Gly601Arg Single submitter gastrointestinal stromal tumor
p.Ile808Phe Single submitter
p.Ile883Thr Single submitter gastrointestinal stromal tumor
p.Leu667Arg Single submitter piebaldism
p.Met552_Glu554delinsLys Single submitter gastrointestinal stromal tumor
p.Pro551_Lys558delinsGln Single submitter gastrointestinal stromal tumor
p.Pro585_Arg586insAsnProThrGlnLeuProTyrAspHisLysTrpGluPhePro Single submitter gastrointestinal stromal tumor
p.Pro832Ser Single submitter gastrointestinal stromal tumor
p.Thr437_Ile438insTer Single submitter piebaldism
p.Trp557_Lys558del Single submitter gastrointestinal stromal tumor
p.Val559_Thr574delinsAla Single submitter gastrointestinal stromal tumor
p.Val560Asp Single submitter hereditary neoplastic syndrome

Conflicting classifications of pathogenicity 204

c.1116-5T>C Single submitter gastrointestinal stromal tumor
c.1231+13A>T Single submitter gastrointestinal stromal tumor
c.1232-5T>C Single submitter hereditary neoplastic syndrome
c.1347-12T>C Single submitter gastrointestinal stromal tumor
c.1541-5T>C Single submitter hereditary neoplastic syndrome
c.1775-5T>C Single submitter hereditary neoplastic syndrome
c.1990+1del Single submitter hereditary neoplastic syndrome ⚠
c.2142-5C>G Single submitter gastrointestinal stromal tumor
c.2142-5C>T Single submitter hereditary neoplastic syndrome
c.2234-3C>T Single submitter hereditary neoplastic syndrome
c.2234-5C>T Single submitter hereditary neoplastic syndrome
c.2597-51T>C Single submitter Hereditary cancer
c.2802+9A>G Single submitter piebaldism
c.338-5T>G Single submitter hereditary neoplastic syndrome
c.67+12C>T Single submitter mastocytosis
c.68-8C>G Single submitter gastrointestinal stromal tumor
c.756+3G>A Single submitter gastrointestinal stromal tumor
c.757-1G>A Single submitter gastrointestinal stromal tumor ⚠
c.-14T>A Single submitter mastocytosis
c.-5C>T Single submitter hereditary neoplastic syndrome
c.*1834A>G Single submitter piebaldism
c.*252G>T Single submitter gastrointestinal stromal tumor
c.*299G>C Single submitter piebaldism
c.*929G>A Single submitter mastocytosis
p.Ala168Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala178Ser Single submitter KIT-related disorder ⚠
p.Ala178Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala178Val Single submitter hereditary neoplastic syndrome ⚠
p.Ala219Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala280Val Single submitter KIT-related disorder ⚠
p.Ala401Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala404Thr Single submitter gastrointestinal stromal tumor ⚠
p.Ala431Ser Single submitter hereditary neoplastic syndrome ⚠
p.Ala431Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala698Gly Single submitter gastrointestinal stromal tumor ⚠
p.Ala755Thr Single submitter hereditary neoplastic syndrome ⚠
p.Ala784Thr Single submitter gastrointestinal stromal tumor ⚠
p.Arg19Ser Single submitter gastrointestinal stromal tumor ⚠
p.Arg281Lys Single submitter hereditary neoplastic syndrome ⚠
p.Arg281Thr Single submitter hereditary neoplastic syndrome ⚠
p.Arg49Cys Single submitter gastrointestinal stromal tumor ⚠
p.Arg49His Single submitter hereditary neoplastic syndrome ⚠
p.Arg888Gln Single submitter gastrointestinal stromal tumor ⚠
p.Arg946Gln Single submitter hereditary neoplastic syndrome ⚠
p.Arg946Pro Single submitter hereditary neoplastic syndrome ⚠
p.Arg946Ter Single submitter piebaldism ⚠
p.Arg956Trp Single submitter gastrointestinal stromal tumor ⚠
p.Asn105Ser Single submitter gastrointestinal stromal tumor ⚠
p.Asn130= Single submitter gastrointestinal stromal tumor
p.Asn145Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn250Ser Single submitter gastrointestinal stromal tumor ⚠
p.Asn293Ser Single submitter piebaldism ⚠
p.Asn326= Single submitter hereditary neoplastic syndrome
p.Asn370Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn410Thr Single submitter gastrointestinal stromal tumor ⚠
p.Asn463His Single submitter hereditary neoplastic syndrome ⚠
p.Asn511= Single submitter hereditary neoplastic syndrome
p.Asn512Asp Single submitter hereditary neoplastic syndrome ⚠
p.Asn512Ser Single submitter gastrointestinal stromal tumor ⚠
p.Asn77Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn77Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn80Lys Single submitter ovarian cancer ⚠
p.Asn80Ser Single submitter gastrointestinal stromal tumor ⚠
p.Asn822Lys Single submitter hereditary neoplastic syndrome ⚠
p.Asn828= Single submitter hereditary neoplastic syndrome
p.Asn933Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn958Ser Single submitter hereditary neoplastic syndrome ⚠
p.Asn99= Single submitter gastrointestinal stromal tumor
p.Asp129Glu Single submitter hereditary neoplastic syndrome ⚠
p.Asp129Gly Single submitter gastrointestinal stromal tumor ⚠
p.Asp327Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp458Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp496Asn Single submitter KIT-related disorder ⚠
p.Asp52Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp52Gly Single submitter gastrointestinal stromal tumor ⚠
p.Asp816= Single submitter gastrointestinal stromal tumor
p.Asp816Val Single submitter cutaneous mastocytosis ⚠
p.Asp910Tyr Single submitter hereditary neoplastic syndrome ⚠
p.Asp974Asn Single submitter gastrointestinal stromal tumor ⚠
p.Asp975Asn Single submitter hereditary neoplastic syndrome ⚠
p.Asp9Asn Single submitter hereditary neoplastic syndrome ⚠
p.Cys136Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln152Glu Single submitter gastrointestinal stromal tumor ⚠
p.Gln190Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gln21Arg Single submitter gastrointestinal stromal tumor ⚠
p.Gln26His Single submitter mastocytosis ⚠
p.Gln448Ter Single submitter hereditary neoplastic syndrome ⚠
p.Glu142= Single submitter hereditary neoplastic syndrome
p.Glu249Gly Single submitter hereditary neoplastic syndrome ⚠
p.Glu306Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu360Asp Single submitter hereditary neoplastic syndrome ⚠
p.Glu514Ter Single submitter hereditary neoplastic syndrome ⚠
p.Glu53Lys Single submitter hereditary neoplastic syndrome ⚠
p.Glu861= Single submitter hereditary neoplastic syndrome
p.Glu930Asp Single submitter hereditary neoplastic syndrome ⚠
p.Gly102Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly424= Single submitter KIT-related disorder
p.Gly42fs Single submitter gastrointestinal stromal tumor ⚠
p.Gly466Arg Single submitter hereditary neoplastic syndrome ⚠
p.Gly470Glu Single submitter hereditary neoplastic syndrome ⚠
p.Gly487= Single submitter hereditary neoplastic syndrome
p.Gly528Ser Single submitter hereditary neoplastic syndrome ⚠
p.Gly565Val Single submitter hereditary neoplastic syndrome ⚠
p.His101Arg Single submitter hereditary neoplastic syndrome ⚠
p.His101Tyr Single submitter piebaldism ⚠
p.His185Arg Single submitter hereditary neoplastic syndrome ⚠
p.His185Gln Single submitter piebaldism ⚠
p.His264Arg Single submitter gastrointestinal stromal tumor ⚠
p.His264Gln Single submitter hereditary neoplastic syndrome ⚠
p.His517Tyr Single submitter gastrointestinal stromal tumor ⚠
p.His697Tyr Single submitter hereditary neoplastic syndrome ⚠
p.His934= Single submitter gastrointestinal stromal tumor
p.His934Arg Single submitter hereditary neoplastic syndrome ⚠
p.His934Gln Single submitter hereditary neoplastic syndrome ⚠
p.Ile235Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile349Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile403Val Single submitter gastrointestinal stromal tumor ⚠
p.Ile438Val Single submitter gastrointestinal stromal tumor ⚠
p.Ile539Leu Single submitter gastrointestinal stromal tumor ⚠
p.Ile539Val Single submitter gastrointestinal stromal tumor ⚠
p.Ile542Met Single submitter gastrointestinal stromal tumor ⚠
p.Ile662Val Single submitter gastrointestinal stromal tumor ⚠
p.Ile744Thr Single submitter gastrointestinal stromal tumor ⚠
p.Ile748fs Single submitter piebaldism ⚠
p.Ile748Thr Single submitter gastrointestinal stromal tumor ⚠
p.Ile928Val Single submitter hereditary neoplastic syndrome ⚠
p.Ile935Val Single submitter gastrointestinal stromal tumor ⚠
p.Leu117Ile Single submitter gastrointestinal stromal tumor ⚠
p.Leu11fs Single submitter hereditary neoplastic syndrome ⚠
p.Leu160Met Single submitter hereditary neoplastic syndrome ⚠
p.Leu421Phe Single submitter hereditary neoplastic syndrome ⚠
p.Leu426Val Single submitter gastrointestinal stromal tumor ⚠
p.Leu702Val Single submitter gastrointestinal stromal tumor ⚠
p.Leu706= Single submitter hereditary neoplastic syndrome
p.Leu783= Single submitter gastrointestinal stromal tumor
p.Leu890= Single submitter hereditary neoplastic syndrome
p.Lys167Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys176Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys193Gln Single submitter hereditary neoplastic syndrome ⚠
p.Lys236Thr Single submitter hereditary neoplastic syndrome ⚠
p.Lys364Arg Single submitter gastrointestinal stromal tumor ⚠
p.Lys471Gln Single submitter hereditary neoplastic syndrome ⚠
p.Lys499= Single submitter hereditary neoplastic syndrome
p.Lys558= Single submitter hereditary neoplastic syndrome
p.Lys626= Single submitter gastrointestinal stromal tumor
p.Lys738Arg Single submitter hereditary neoplastic syndrome ⚠
p.Lys926Gln Single submitter gastrointestinal stromal tumor ⚠
p.Met171Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met171Val Single submitter hereditary neoplastic syndrome ⚠
p.Met289Ile Single submitter gastrointestinal stromal tumor ⚠
p.Met318Val Single submitter hereditary neoplastic syndrome ⚠
p.Met535Ile Single submitter gastrointestinal stromal tumor ⚠
p.Met535Thr Single submitter hereditary neoplastic syndrome ⚠
p.Met651Leu Single submitter gastrointestinal stromal tumor ⚠
p.Phe316= Single submitter gastrointestinal stromal tumor
p.Phe483Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro155Leu Single submitter Gastrointestinal stromal tumor, familial ⚠
p.Pro34Leu Single submitter testicular cancer ⚠
p.Pro36Ser Single submitter gastrointestinal stromal tumor ⚠
p.Pro467Ser Single submitter hereditary neoplastic syndrome ⚠
p.Pro468Leu Single submitter hereditary neoplastic syndrome ⚠
p.Pro61Leu Single submitter ovarian cancer ⚠
p.Pro627= Single submitter hereditary neoplastic syndrome
p.Pro949His Single submitter hereditary neoplastic syndrome ⚠
p.Ser123Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ser197Leu Single submitter piebaldism ⚠
p.Ser24Cys Single submitter gastrointestinal stromal tumor ⚠
p.Ser251fs Single submitter hereditary neoplastic syndrome ⚠
p.Ser28= Single submitter hereditary neoplastic syndrome
p.Ser38Thr Single submitter gastrointestinal stromal tumor ⚠
p.Ser395= Single submitter gastrointestinal stromal tumor
p.Ser451Pro Single submitter hereditary neoplastic syndrome ⚠
p.Ser451Thr Single submitter gastrointestinal stromal tumor ⚠
p.Ser465Pro Single submitter gastrointestinal stromal tumor ⚠
p.Ser477Phe Single submitter hereditary neoplastic syndrome ⚠
p.Ser713Phe Single submitter gastrointestinal stromal tumor ⚠
p.Ser715Asn Single submitter hereditary neoplastic syndrome ⚠
p.Thr144Ser Single submitter gastrointestinal stromal tumor ⚠
p.Thr232Met Single submitter hereditary neoplastic syndrome ⚠
p.Thr245Ala Single submitter gastrointestinal stromal tumor ⚠
p.Thr245Met Single submitter gastrointestinal stromal tumor ⚠
p.Thr274Met Single submitter hereditary neoplastic syndrome ⚠
p.Thr304= Single submitter gastrointestinal stromal tumor
p.Thr304Ala Single submitter hereditary neoplastic syndrome ⚠
p.Thr461= Single submitter hereditary neoplastic syndrome
p.Thr500Ser Single submitter hereditary neoplastic syndrome ⚠
p.Thr594Ile Single submitter gastrointestinal stromal tumor ⚠
p.Thr67Ser Single submitter hereditary neoplastic syndrome ⚠
p.Thr74Met Single submitter hereditary neoplastic syndrome ⚠
p.Thr92Ser Single submitter gastrointestinal stromal tumor ⚠
p.Thr963Ser Single submitter hereditary neoplastic syndrome ⚠
p.Tyr553Ser Single submitter hereditary neoplastic syndrome ⚠
p.Tyr855Cys Single submitter cutaneous mastocytosis ⚠
p.Val13Ile Single submitter hereditary neoplastic syndrome ⚠
p.Val188Ala Single submitter hereditary neoplastic syndrome ⚠
p.Val331= Single submitter gastrointestinal stromal tumor
p.Val399Ile Single submitter hereditary neoplastic syndrome ⚠
p.Val422Met Single submitter piebaldism ⚠
p.Val457Met Single submitter hereditary neoplastic syndrome ⚠
p.Val50Leu Single submitter hereditary neoplastic syndrome ⚠
p.Val530Ile Single submitter hereditary neoplastic syndrome ⚠
p.Val532Ile Single submitter hereditary neoplastic syndrome ⚠
p.Val776= Single submitter hereditary neoplastic syndrome
p.Val950Met Single submitter hereditary neoplastic syndrome ⚠

Benign 47

c.1115+240G>A Multiple submitters
c.1540+82A>G Multiple submitters
c.2142-36A>G Multiple submitters gastrointestinal stromal tumor
c.2234-8C>T Multiple submitters hereditary neoplastic syndrome
c.2362-107T>A Multiple submitters
c.2362-77G>A Multiple submitters
c.2484+298A>G Multiple submitters
c.2484+78T>C Multiple submitters squamous cell lung carcinoma
c.2697-124A>G Multiple submitters
c.337+185A>G Multiple submitters
c.67+56T>C Multiple submitters
c.67+90A>G Multiple submitters
c.68-130T>C Multiple submitters
c.*149C>T Multiple submitters piebaldism
c.*1704G>T Multiple submitters gastrointestinal stromal tumor
p.Lys546= Multiple submitters hereditary neoplastic syndrome
p.Pro949= Multiple submitters hereditary neoplastic syndrome
c.1115+16del Single submitter gastrointestinal stromal tumor
c.1116-191C>T Single submitter
c.1116-316C>G Single submitter
c.1232-8dup Single submitter gastrointestinal stromal tumor
c.1346+17del Single submitter gastrointestinal stromal tumor
c.1347-12del Single submitter gastrointestinal stromal tumor
c.1347-17del Single submitter gastrointestinal stromal tumor
c.1347-207C>T Single submitter
c.1347-252G>C Single submitter
c.1540+109T>C Single submitter
c.1775-124G>A Single submitter
c.1991-150T>C Single submitter
c.1991-16del Single submitter gastrointestinal stromal tumor
c.2362-333A>T Single submitter
c.2485-213C>T Single submitter
c.2803-339A>G Single submitter
c.337+14T>G Single submitter gastrointestinal stromal tumor
c.338-17del Single submitter gastrointestinal stromal tumor
c.338-266A>G Single submitter
c.619+244G>C Single submitter
c.620-66A>G Single submitter
c.620-9del Single submitter gastrointestinal stromal tumor
c.620-9dup Single submitter gastrointestinal stromal tumor
c.67+216A>G Single submitter
c.67+285C>G Single submitter
c.756+143A>G Single submitter
c.757-230C>T Single submitter
c.925+145C>T Single submitter
c.925+9C>T Single submitter gastrointestinal stromal tumor
c.926-294T>A Single submitter

Benign/Likely benign 26

c.67+4G>A Multiple submitters hereditary neoplastic syndrome
c.*1791G>A Multiple submitters gastrointestinal stromal tumor
c.*217G>A Multiple submitters gastrointestinal stromal tumor
c.*352A>G Multiple submitters mastocytosis
c.*66T>G Multiple submitters mastocytosis
p.Ala430= Multiple submitters gastrointestinal stromal tumor
p.Arg177= Multiple submitters gastrointestinal stromal tumor
p.Asn400Ser Multiple submitters hereditary neoplastic syndrome
p.Asn787= Multiple submitters hereditary neoplastic syndrome
p.Ile798= Multiple submitters hereditary neoplastic syndrome
p.Ile935= Multiple submitters hereditary neoplastic syndrome
p.Leu124= Multiple submitters hereditary neoplastic syndrome
p.Met541Leu Multiple submitters hereditary neoplastic syndrome
p.Pro41= Multiple submitters hereditary neoplastic syndrome
p.Pro754= Multiple submitters gastrointestinal stromal tumor
p.Thr84= Multiple submitters hereditary neoplastic syndrome
p.Thr84Met Multiple submitters hereditary neoplastic syndrome
p.Tyr373= Multiple submitters hereditary neoplastic syndrome
p.Val374Ile Multiple submitters mastocytosis
c.-21G>T Single submitter mastocytosis
c.*1220C>T Single submitter mastocytosis
c.*1241G>A Single submitter mastocytosis
c.*1524A>G Single submitter gastrointestinal stromal tumor
c.*2017T>C Single submitter mastocytosis
c.*790A>G Single submitter piebaldism
c.*888T>C Single submitter mastocytosis

Likely benign 1173

Showing the top 300 by review status; the full set is in the sitemap.

c.1115+12A>G Multiple submitters gastrointestinal stromal tumor
c.1115+80C>T Multiple submitters
c.1232-4G>A Multiple submitters hereditary neoplastic syndrome
c.1232-6C>G Multiple submitters gastrointestinal stromal tumor
c.1232-92C>G Multiple submitters
c.1541-4G>A Multiple submitters hereditary neoplastic syndrome
c.1648-4A>G Multiple submitters hereditary neoplastic syndrome
c.1775-4A>G Multiple submitters gastrointestinal stromal tumor
c.1775-70C>G Multiple submitters
c.2142-4C>A Multiple submitters hereditary neoplastic syndrome
c.2234-51T>A Multiple submitters
c.2234-87C>T Multiple submitters
c.2362-4A>T Multiple submitters hereditary neoplastic syndrome
c.2484+71C>T Multiple submitters
c.338-4A>G Multiple submitters hereditary neoplastic syndrome
c.338-4A>T Multiple submitters gastrointestinal stromal tumor
c.620-4C>T Multiple submitters gastrointestinal stromal tumor
c.67+5_67+18dup Multiple submitters gastrointestinal stromal tumor
c.68-4G>A Multiple submitters gastrointestinal stromal tumor
p.Ala168= Multiple submitters gastrointestinal stromal tumor
p.Ala207= Multiple submitters hereditary neoplastic syndrome
p.Ala219= Multiple submitters hereditary neoplastic syndrome
p.Ala280= Multiple submitters hereditary neoplastic syndrome
p.Ala292= Multiple submitters hereditary neoplastic syndrome
p.Ala339= Multiple submitters hereditary neoplastic syndrome
p.Ala452= Multiple submitters gastrointestinal stromal tumor
p.Ala482= Multiple submitters hereditary neoplastic syndrome
p.Ala597= Multiple submitters gastrointestinal stromal tumor
p.Ala606= Multiple submitters gastrointestinal stromal tumor
p.Ala616= Multiple submitters gastrointestinal stromal tumor
p.Ala621= Multiple submitters gastrointestinal stromal tumor
p.Ala636= Multiple submitters hereditary neoplastic syndrome
p.Ala701= Multiple submitters hereditary neoplastic syndrome
p.Ala736= Multiple submitters hereditary neoplastic syndrome
p.Ala755= Multiple submitters hereditary neoplastic syndrome
p.Ala763= Multiple submitters gastrointestinal stromal tumor
p.Ala781= Multiple submitters hereditary neoplastic syndrome
p.Ala87= Multiple submitters gastrointestinal stromal tumor
p.Ala89= Multiple submitters hereditary neoplastic syndrome
p.Arg122= Multiple submitters gastrointestinal stromal tumor
p.Arg161= Multiple submitters hereditary neoplastic syndrome
p.Arg248= Multiple submitters hereditary neoplastic syndrome
p.Arg49= Multiple submitters hereditary neoplastic syndrome
p.Arg5= Multiple submitters hereditary neoplastic syndrome
p.Arg55= Multiple submitters hereditary neoplastic syndrome
p.Arg588= Multiple submitters hereditary neoplastic syndrome
p.Asn250= Multiple submitters gastrointestinal stromal tumor
p.Asn260= Multiple submitters hereditary neoplastic syndrome
p.Asn294= Multiple submitters gastrointestinal stromal tumor
p.Asn330= Multiple submitters gastrointestinal stromal tumor
p.Asn352= Multiple submitters hereditary neoplastic syndrome
p.Asn367= Multiple submitters hereditary neoplastic syndrome
p.Asn410= Multiple submitters hereditary neoplastic syndrome
p.Asn486= Multiple submitters hereditary neoplastic syndrome
p.Asn495= Multiple submitters gastrointestinal stromal tumor
p.Asn512= Multiple submitters hereditary neoplastic syndrome
p.Asn564= Multiple submitters gastrointestinal stromal tumor
p.Asn566= Multiple submitters hereditary neoplastic syndrome
p.Asn587= Multiple submitters gastrointestinal stromal tumor
p.Asn649= Multiple submitters hereditary neoplastic syndrome
p.Asn719= Multiple submitters hereditary neoplastic syndrome
p.Asn77= Multiple submitters hereditary neoplastic syndrome
p.Asn91= Multiple submitters gastrointestinal stromal tumor
p.Asn938= Multiple submitters hereditary neoplastic syndrome
p.Asn941= Multiple submitters gastrointestinal stromal tumor
p.Asp131= Multiple submitters hereditary neoplastic syndrome
p.Asp165= Multiple submitters gastrointestinal stromal tumor
p.Asp284= Multiple submitters hereditary neoplastic syndrome
p.Asp327= Multiple submitters gastrointestinal stromal tumor
p.Asp398= Multiple submitters hereditary neoplastic syndrome
p.Asp439= Multiple submitters gastrointestinal stromal tumor
p.Asp458= Multiple submitters hereditary neoplastic syndrome
p.Asp496= Multiple submitters hereditary neoplastic syndrome
p.Asp52= Multiple submitters hereditary neoplastic syndrome
p.Asp737= Multiple submitters gastrointestinal stromal tumor
p.Asp751= Multiple submitters hereditary neoplastic syndrome
p.Asp759= Multiple submitters gastrointestinal stromal tumor
p.Asp760= Multiple submitters hereditary neoplastic syndrome
p.Asp765= Multiple submitters gastrointestinal stromal tumor
p.Asp768= Multiple submitters hereditary neoplastic syndrome
p.Asp851= Multiple submitters hereditary neoplastic syndrome
p.Asp908= Multiple submitters hereditary neoplastic syndrome
p.Asp952= Multiple submitters hereditary neoplastic syndrome
p.Asp974= Multiple submitters hereditary neoplastic syndrome
p.Cys12= Multiple submitters hereditary neoplastic syndrome
p.Cys233= Multiple submitters hereditary neoplastic syndrome
p.Cys443= Multiple submitters hereditary neoplastic syndrome
p.Cys58= Multiple submitters hereditary neoplastic syndrome
p.Cys942= Multiple submitters hereditary neoplastic syndrome
p.Cys97= Multiple submitters hereditary neoplastic syndrome
p.Gln190= Multiple submitters hereditary neoplastic syndrome
p.Gln21= Multiple submitters gastrointestinal stromal tumor
p.Gln26= Multiple submitters gastrointestinal stromal tumor
p.Gln272= Multiple submitters hereditary neoplastic syndrome
p.Gln347= Multiple submitters gastrointestinal stromal tumor
p.Gln427= Multiple submitters gastrointestinal stromal tumor
p.Gln575= Multiple submitters hereditary neoplastic syndrome
p.Gln927= Multiple submitters hereditary neoplastic syndrome
p.Glu191= Multiple submitters hereditary neoplastic syndrome
p.Glu249= Multiple submitters hereditary neoplastic syndrome
p.Glu257= Multiple submitters hereditary neoplastic syndrome
p.Glu306= Multiple submitters gastrointestinal stromal tumor
p.Glu336= Multiple submitters hereditary neoplastic syndrome
p.Glu344= Multiple submitters hereditary neoplastic syndrome
p.Glu366= Multiple submitters hereditary neoplastic syndrome
p.Glu376= Multiple submitters gastrointestinal stromal tumor
p.Glu53= Multiple submitters hereditary neoplastic syndrome
p.Glu554= Multiple submitters hereditary neoplastic syndrome
p.Glu561= Multiple submitters gastrointestinal stromal tumor
p.Glu711= Multiple submitters gastrointestinal stromal tumor
p.Glu720= Multiple submitters hereditary neoplastic syndrome
p.Glu761= Multiple submitters gastrointestinal stromal tumor
p.Glu767= Multiple submitters hereditary neoplastic syndrome
p.Glu81= Multiple submitters gastrointestinal stromal tumor
p.Glu893= Multiple submitters hereditary neoplastic syndrome
p.Glu930= Multiple submitters gastrointestinal stromal tumor
p.Gly150= Multiple submitters gastrointestinal stromal tumor
p.Gly192= Multiple submitters gastrointestinal stromal tumor
p.Gly297= Multiple submitters gastrointestinal stromal tumor
p.Gly3= Multiple submitters hereditary neoplastic syndrome
p.Gly32= Multiple submitters gastrointestinal stromal tumor
p.Gly328= Multiple submitters hereditary neoplastic syndrome
p.Gly432= Multiple submitters gastrointestinal stromal tumor
p.Gly445= Multiple submitters gastrointestinal stromal tumor
p.Gly51= Multiple submitters hereditary neoplastic syndrome
p.Gly528= Multiple submitters hereditary neoplastic syndrome
p.Gly598= Multiple submitters hereditary neoplastic syndrome
p.Gly601= Multiple submitters hereditary neoplastic syndrome
p.Gly610= Multiple submitters hereditary neoplastic syndrome
p.Gly658= Multiple submitters gastrointestinal stromal tumor
p.Gly745= Multiple submitters hereditary neoplastic syndrome
p.Gly856= Multiple submitters hereditary neoplastic syndrome
p.Gly886= Multiple submitters hereditary neoplastic syndrome
p.Gly961= Multiple submitters hereditary neoplastic syndrome
p.His101= Multiple submitters hereditary neoplastic syndrome
p.His185= Multiple submitters gastrointestinal stromal tumor
p.His264= Multiple submitters hereditary neoplastic syndrome
p.His485= Multiple submitters gastrointestinal stromal tumor
p.His519= Multiple submitters gastrointestinal stromal tumor
p.His630= Multiple submitters hereditary neoplastic syndrome
p.His697= Multiple submitters gastrointestinal stromal tumor
p.His790= Multiple submitters hereditary neoplastic syndrome
p.His802= Multiple submitters hereditary neoplastic syndrome
p.His894= Multiple submitters gastrointestinal stromal tumor
p.His973= Multiple submitters hereditary neoplastic syndrome
p.Ile172= Multiple submitters gastrointestinal stromal tumor
p.Ile313= Multiple submitters gastrointestinal stromal tumor
p.Ile315= Multiple submitters gastrointestinal stromal tumor
p.Ile349= Multiple submitters hereditary neoplastic syndrome
p.Ile39= Multiple submitters hereditary neoplastic syndrome
p.Ile403= Multiple submitters hereditary neoplastic syndrome
p.Ile539= Multiple submitters gastrointestinal stromal tumor
p.Ile653= Multiple submitters hereditary neoplastic syndrome
p.Ile756= Multiple submitters hereditary neoplastic syndrome
p.Ile805= Multiple submitters hereditary neoplastic syndrome
p.Ile817= Multiple submitters hereditary neoplastic syndrome
p.Ile920= Multiple submitters gastrointestinal stromal tumor
p.Ile957= Multiple submitters gastrointestinal stromal tumor
p.Leu119= Multiple submitters gastrointestinal stromal tumor
p.Leu14= Multiple submitters gastrointestinal stromal tumor
p.Leu148= Multiple submitters hereditary neoplastic syndrome
p.Leu15= Multiple submitters hereditary neoplastic syndrome
p.Leu16= Multiple submitters hereditary neoplastic syndrome
p.Leu17= Multiple submitters hereditary neoplastic syndrome
p.Leu184= Multiple submitters hereditary neoplastic syndrome
p.Leu202= Multiple submitters gastrointestinal stromal tumor
p.Leu255= Multiple submitters hereditary neoplastic syndrome
p.Leu275= Multiple submitters hereditary neoplastic syndrome
p.Leu379= Multiple submitters gastrointestinal stromal tumor
p.Leu382= Multiple submitters hereditary neoplastic syndrome
p.Leu393= Multiple submitters hereditary neoplastic syndrome
p.Leu455= Multiple submitters hereditary neoplastic syndrome
p.Leu472= Multiple submitters hereditary neoplastic syndrome
p.Leu525= Multiple submitters hereditary neoplastic syndrome
p.Leu56= Multiple submitters gastrointestinal stromal tumor
p.Leu611= Multiple submitters hereditary neoplastic syndrome
p.Leu644= Multiple submitters gastrointestinal stromal tumor
p.Leu647= Multiple submitters hereditary neoplastic syndrome
p.Leu667= Multiple submitters hereditary neoplastic syndrome
p.Leu679= Multiple submitters hereditary neoplastic syndrome
p.Leu71= Multiple submitters gastrointestinal stromal tumor
p.Leu766= Multiple submitters gastrointestinal stromal tumor
p.Leu769= Multiple submitters hereditary neoplastic syndrome
p.Leu800= Multiple submitters hereditary neoplastic syndrome
p.Leu831= Multiple submitters hereditary neoplastic syndrome
p.Leu859= Multiple submitters hereditary neoplastic syndrome
p.Leu923= Multiple submitters hereditary neoplastic syndrome
p.Leu939= Multiple submitters hereditary neoplastic syndrome
p.Leu970= Multiple submitters gastrointestinal stromal tumor
p.Lys100= Multiple submitters hereditary neoplastic syndrome
p.Lys116= Multiple submitters gastrointestinal stromal tumor
p.Lys127= Multiple submitters gastrointestinal stromal tumor
p.Lys167= Multiple submitters hereditary neoplastic syndrome
p.Lys176= Multiple submitters hereditary neoplastic syndrome
p.Lys236= Multiple submitters hereditary neoplastic syndrome
p.Lys258= Multiple submitters hereditary neoplastic syndrome
p.Lys383= Multiple submitters gastrointestinal stromal tumor
p.Lys471= Multiple submitters gastrointestinal stromal tumor
p.Lys623= Multiple submitters gastrointestinal stromal tumor
p.Lys65= Multiple submitters hereditary neoplastic syndrome
p.Lys78= Multiple submitters hereditary neoplastic syndrome
p.Lys818= Multiple submitters hereditary neoplastic syndrome
p.Lys834= Multiple submitters gastrointestinal stromal tumor
p.Lys86= Multiple submitters hereditary neoplastic syndrome
p.Lys884= Multiple submitters gastrointestinal stromal tumor
p.Lys926= Multiple submitters hereditary neoplastic syndrome
p.Phe110= Multiple submitters hereditary neoplastic syndrome
p.Phe118= Multiple submitters hereditary neoplastic syndrome
p.Phe162= Multiple submitters hereditary neoplastic syndrome
p.Phe200= Multiple submitters gastrointestinal stromal tumor
p.Phe229= Multiple submitters hereditary neoplastic syndrome
p.Phe433= Multiple submitters hereditary neoplastic syndrome
p.Phe504= Multiple submitters hereditary neoplastic syndrome
p.Phe506= Multiple submitters hereditary neoplastic syndrome
p.Phe529= Multiple submitters hereditary neoplastic syndrome
p.Phe584= Multiple submitters gastrointestinal stromal tumor
p.Phe600= Multiple submitters hereditary neoplastic syndrome
p.Phe811= Multiple submitters hereditary neoplastic syndrome
p.Phe887= Multiple submitters hereditary neoplastic syndrome
p.Phe917= Multiple submitters hereditary neoplastic syndrome
p.Pro164= Multiple submitters gastrointestinal stromal tumor
p.Pro166= Multiple submitters hereditary neoplastic syndrome
p.Pro317= Multiple submitters hereditary neoplastic syndrome
p.Pro34= Multiple submitters hereditary neoplastic syndrome
p.Pro341= Multiple submitters hereditary neoplastic syndrome
p.Pro36= Multiple submitters gastrointestinal stromal tumor
p.Pro363= Multiple submitters gastrointestinal stromal tumor
p.Pro413= Multiple submitters hereditary neoplastic syndrome
p.Pro434= Multiple submitters gastrointestinal stromal tumor
p.Pro456= Multiple submitters hereditary neoplastic syndrome
p.Pro468= Multiple submitters hereditary neoplastic syndrome
p.Pro518= Multiple submitters gastrointestinal stromal tumor
p.Pro585= Multiple submitters hereditary neoplastic syndrome
p.Pro61= Multiple submitters gastrointestinal stromal tumor
p.Pro869= Multiple submitters hereditary neoplastic syndrome
p.Pro874= Multiple submitters hereditary neoplastic syndrome
p.Pro892= Multiple submitters hereditary neoplastic syndrome
p.Pro911= Multiple submitters hereditary neoplastic syndrome
p.Pro944= Multiple submitters hereditary neoplastic syndrome
p.Ser147= Multiple submitters gastrointestinal stromal tumor
p.Ser174= Multiple submitters gastrointestinal stromal tumor
p.Ser197= Multiple submitters hereditary neoplastic syndrome
p.Ser239= Multiple submitters hereditary neoplastic syndrome
p.Ser241= Multiple submitters gastrointestinal stromal tumor
p.Ser251= Multiple submitters hereditary neoplastic syndrome
p.Ser365= Multiple submitters gastrointestinal stromal tumor
p.Ser38= Multiple submitters hereditary neoplastic syndrome
p.Ser44= Multiple submitters hereditary neoplastic syndrome
p.Ser453= Multiple submitters hereditary neoplastic syndrome
p.Ser464= Multiple submitters hereditary neoplastic syndrome
p.Ser477= Multiple submitters gastrointestinal stromal tumor
p.Ser481= Multiple submitters hereditary neoplastic syndrome
p.Ser688= Multiple submitters hereditary neoplastic syndrome
p.Ser692= Multiple submitters hereditary neoplastic syndrome
p.Ser709= Multiple submitters hereditary neoplastic syndrome
p.Ser713= Multiple submitters gastrointestinal stromal tumor
p.Ser715= Multiple submitters gastrointestinal stromal tumor
p.Ser717= Multiple submitters hereditary neoplastic syndrome
p.Ser746= Multiple submitters hereditary neoplastic syndrome
p.Ser785= Multiple submitters hereditary neoplastic syndrome
p.Ser840= Multiple submitters hereditary neoplastic syndrome
p.Ser929= Multiple submitters hereditary neoplastic syndrome
p.Ser931= Multiple submitters hereditary neoplastic syndrome
p.Ser937= Multiple submitters gastrointestinal stromal tumor
p.Ser962= Multiple submitters gastrointestinal stromal tumor
p.Ser966= Multiple submitters hereditary neoplastic syndrome
p.Thr132= Multiple submitters gastrointestinal stromal tumor
p.Thr144= Multiple submitters gastrointestinal stromal tumor
p.Thr232= Multiple submitters hereditary neoplastic syndrome
p.Thr234= Multiple submitters hereditary neoplastic syndrome
p.Thr245= Multiple submitters gastrointestinal stromal tumor
p.Thr253= Multiple submitters hereditary neoplastic syndrome
p.Thr274= Multiple submitters hereditary neoplastic syndrome
p.Thr295= Multiple submitters hereditary neoplastic syndrome
p.Thr302= Multiple submitters gastrointestinal stromal tumor
p.Thr303= Multiple submitters gastrointestinal stromal tumor
p.Thr322= Multiple submitters hereditary neoplastic syndrome
p.Thr380= Multiple submitters hereditary neoplastic syndrome
p.Thr385= Multiple submitters hereditary neoplastic syndrome
p.Thr391= Multiple submitters gastrointestinal stromal tumor
p.Thr437= Multiple submitters gastrointestinal stromal tumor
p.Thr500= Multiple submitters gastrointestinal stromal tumor
p.Thr520= Multiple submitters gastrointestinal stromal tumor
p.Thr544= Multiple submitters gastrointestinal stromal tumor
p.Thr59= Multiple submitters hereditary neoplastic syndrome
p.Thr594= Multiple submitters hereditary neoplastic syndrome
p.Thr607= Multiple submitters hereditary neoplastic syndrome
p.Thr661= Multiple submitters hereditary neoplastic syndrome
p.Thr666= Multiple submitters gastrointestinal stromal tumor
p.Thr718Ala Multiple submitters hereditary neoplastic syndrome
p.Thr74= Multiple submitters hereditary neoplastic syndrome
p.Thr753= Multiple submitters gastrointestinal stromal tumor
p.Thr801= Multiple submitters hereditary neoplastic syndrome
p.Thr847= Multiple submitters gastrointestinal stromal tumor
p.Thr916= Multiple submitters gastrointestinal stromal tumor
p.Thr92= Multiple submitters gastrointestinal stromal tumor
p.Thr96= Multiple submitters hereditary neoplastic syndrome
p.Thr963= Multiple submitters gastrointestinal stromal tumor
p.Thr98= Multiple submitters gastrointestinal stromal tumor
p.Tyr108= Multiple submitters hereditary neoplastic syndrome

Uncertain significance 1603

Showing the top 300 by review status; the full set is in the sitemap.

c.1232-3T>C Multiple submitters gastrointestinal stromal tumor
c.1540+3A>G Multiple submitters gastrointestinal stromal tumor
c.1647+5C>A Multiple submitters gastrointestinal stromal tumor
c.1647+5C>G Multiple submitters gastrointestinal stromal tumor
c.1647+5C>T Multiple submitters hereditary neoplastic syndrome
c.1774+3C>A Multiple submitters gastrointestinal stromal tumor
c.1774+4A>G Multiple submitters gastrointestinal stromal tumor
c.1880-3T>C Multiple submitters hereditary neoplastic syndrome
c.1990+4A>G Multiple submitters hereditary neoplastic syndrome
c.2141+3A>G Multiple submitters gastrointestinal stromal tumor
c.2142-3C>G Multiple submitters hereditary neoplastic syndrome
c.2233+4A>T Multiple submitters gastrointestinal stromal tumor
c.2362-3T>C Multiple submitters hereditary neoplastic syndrome
c.2597-5C>G Multiple submitters gastrointestinal stromal tumor
c.2696+5G>A Multiple submitters hereditary neoplastic syndrome
c.2802+3G>A Multiple submitters gastrointestinal stromal tumor
c.67+3G>A Multiple submitters hereditary neoplastic syndrome
c.67+5G>T Multiple submitters acute myeloid leukemia
c.68-3C>T Multiple submitters gastrointestinal stromal tumor
c.757-7C>G Multiple submitters gastrointestinal stromal tumor
c.757-9A>G Multiple submitters gastrointestinal stromal tumor
c.925+5A>C Multiple submitters hereditary neoplastic syndrome
c.925+5A>G Multiple submitters hereditary neoplastic syndrome
c.-1G>A Multiple submitters hereditary neoplastic syndrome
p.Ala168Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala168Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala168Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala210Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala273Thr Multiple submitters gastrointestinal stromal tumor ⚠
p.Ala292Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala292Val Multiple submitters gastrointestinal stromal tumor ⚠
p.Ala402Thr Multiple submitters gastrointestinal stromal tumor ⚠
p.Ala430Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala430Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala482Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala482Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala482Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala482Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala4Phe Multiple submitters gastrointestinal stromal tumor
p.Ala4Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala4Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala4Val Multiple submitters gastrointestinal stromal tumor ⚠
p.Ala502Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala507Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala533Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala533Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala597Thr Multiple submitters gastrointestinal stromal tumor ⚠
p.Ala616Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala616Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala617Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala629Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala698Glu Multiple submitters gastrointestinal stromal tumor ⚠
p.Ala698Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala698Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala700Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala755Val Multiple submitters KIT-related disorder ⚠
p.Ala763Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala781Thr Multiple submitters gastrointestinal stromal tumor ⚠
p.Ala795Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala7Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Ala7Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala7Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala895Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala895Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala897Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala909Leu Multiple submitters hereditary neoplastic syndrome
p.Ala909Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Ala940Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Ala964Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg112Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg135Cys Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg135His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg135Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg161Gly Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg161Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg177Cys Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg181Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg19His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg224Gly Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg271Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg271His Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg420Met Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg49Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg55Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg5Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg634Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg634Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg634Trp Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg684Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg686Cys Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg686His Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg686Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg739Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg750Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg804Gln Multiple submitters gastrointestinal stromal tumor ⚠
p.Arg804Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg804Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg830Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg830Pro Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg888Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Arg956Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn130Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn250Asp Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn294Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn300Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn314Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn320Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn326Lys Multiple submitters cutaneous mastocytosis ⚠
p.Asn326Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn352Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn352Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn396Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn406Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn410Tyr Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn423Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn486Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn511Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn512Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn564Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn566Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn567His Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn567Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn587Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn652His Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn655Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn680Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn719Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn822Thr Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn828Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn828Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn933Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn938His Multiple submitters gastrointestinal stromal tumor ⚠
p.Asn938Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asn945fs Multiple submitters gastrointestinal stromal tumor
p.Asn99Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp113Gly Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp129His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp131Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp159His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp165His Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp165Phe Multiple submitters gastrointestinal stromal tumor
p.Asp266His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp332Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp357Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp357Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp361Asn Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp361Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp398_Val399delinsGluPhe Multiple submitters hereditary neoplastic syndrome
p.Asp419Asn Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp419Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp419His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp419Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp439Gly Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp458_Val459del Multiple submitters hereditary neoplastic syndrome
p.Asp458Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp45Asn Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp579Val Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp696Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp696Val Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp716Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp716Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp716Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp723His Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp72Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp737Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp759Asn Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp759Gly Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp759Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp760Val Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp765Glu Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp765Gly Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp765Tyr Multiple submitters KIT-related disorder ⚠
p.Asp816Asn Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp876Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp876Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp910Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp952Asn Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp975Glu Multiple submitters gastrointestinal stromal tumor ⚠
p.Asp975Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Asp975His Multiple submitters mastocytosis ⚠
p.Cys443Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Cys537Tyr Multiple submitters gastrointestinal stromal tumor ⚠
p.Cys691Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys714Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys788Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys844Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys844Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys906Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Cys942Ter Multiple submitters gastrointestinal stromal tumor
p.Gln152Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln190Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln21Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln252= Multiple submitters hereditary neoplastic syndrome
p.Gln256Arg Multiple submitters acute myeloid leukemia ⚠
p.Gln26Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln26Glu Multiple submitters gastrointestinal stromal tumor ⚠
p.Gln272Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln346Glu Multiple submitters gastrointestinal stromal tumor ⚠
p.Gln427Arg Multiple submitters gastrointestinal stromal tumor ⚠
p.Gln427His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln427Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln448His Multiple submitters gastrointestinal stromal tumor ⚠
p.Gln775His Multiple submitters gastrointestinal stromal tumor ⚠
p.Gln919Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln919His Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln919Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln922Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gln927His Multiple submitters gastrointestinal stromal tumor ⚠
p.Gln947Ter Multiple submitters gastrointestinal stromal tumor
p.Glu225Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu306Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu376Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu414Gln Multiple submitters gastrointestinal stromal tumor ⚠
p.Glu435Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu53Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu561Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Glu562del Multiple submitters gastrointestinal stromal tumor
p.Glu605Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu695Gln Multiple submitters gastrointestinal stromal tumor ⚠
p.Glu695Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Glu711Asp Multiple submitters gastrointestinal stromal tumor ⚠
p.Glu711Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu711Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu711Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Glu749Val Multiple submitters gastrointestinal stromal tumor ⚠
p.Glu758Gly Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu761Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu767Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu767Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Glu81Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Glu849Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu861Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu861Lys Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu893Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu898Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu898Lys Multiple submitters cutaneous mastocytosis ⚠
p.Glu925Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.Glu925Gly Multiple submitters gastrointestinal stromal tumor ⚠
p.Glu930Lys Multiple submitters gastrointestinal stromal tumor ⚠
p.Gly192Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly226Glu Multiple submitters piebaldism ⚠
p.Gly265Ala Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly265Ser Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly311Ala Multiple submitters gastrointestinal stromal tumor ⚠
p.Gly32Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly387Arg Multiple submitters gastrointestinal stromal tumor ⚠
p.Gly3Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly42Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly445Glu Multiple submitters gastrointestinal stromal tumor ⚠
p.Gly466Trp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly470Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly51Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly51Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.Gly528Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly565Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly62Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly664Glu Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly727Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly727Val Multiple submitters gastrointestinal stromal tumor ⚠
p.Gly745Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly779= Multiple submitters gastrointestinal stromal tumor
p.Gly827Arg Multiple submitters gastrointestinal stromal tumor ⚠
p.Gly866Glu Multiple submitters gastrointestinal stromal tumor ⚠
p.Gly961Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Gly961Asp Multiple submitters gastrointestinal stromal tumor ⚠
p.Gly961Ser Multiple submitters gastrointestinal stromal tumor ⚠
p.His180Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His264Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His345Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.His40Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His485Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.His485Pro Multiple submitters gastrointestinal stromal tumor ⚠
p.His519Gln Multiple submitters hereditary neoplastic syndrome ⚠
p.His519Tyr Multiple submitters gastrointestinal stromal tumor ⚠
p.His580Asp Multiple submitters hereditary neoplastic syndrome ⚠
p.His580Tyr Multiple submitters hereditary neoplastic syndrome ⚠
p.His630Arg Multiple submitters piebaldism ⚠
p.His697Leu Multiple submitters hereditary neoplastic syndrome ⚠
p.His697Pro Multiple submitters gastrointestinal stromal tumor ⚠
p.His708Tyr Multiple submitters gastrointestinal stromal tumor ⚠
p.His802Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.His894Tyr Multiple submitters gastrointestinal stromal tumor ⚠
p.His934Leu Multiple submitters gastrointestinal stromal tumor ⚠
p.His953Arg Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile107Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile163Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile170Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile201Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile201Val Multiple submitters gastrointestinal stromal tumor ⚠
p.Ile277Leu Multiple submitters gastrointestinal stromal tumor ⚠
p.Ile277Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile315Asn Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile315Thr Multiple submitters gastrointestinal stromal tumor ⚠
p.Ile315Val Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile319Met Multiple submitters gastrointestinal stromal tumor ⚠
p.Ile319Val Multiple submitters gastrointestinal stromal tumor ⚠
p.Ile349Thr Multiple submitters hereditary neoplastic syndrome ⚠
p.Ile478Val Multiple submitters gastrointestinal stromal tumor ⚠
p.Ile47Thr Multiple submitters gastrointestinal stromal tumor ⚠
p.Ile527Met Multiple submitters hereditary neoplastic syndrome ⚠