Unique variants in the KIT gene

Information The variants shown are described using the NM_000222.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. 2 - c.67+4G>A r.spl? p.? - benign g.55524252G>A g.54658085G>A KIT(NM_000222.2):c.67+4G>A (p.?), KIT(NM_000222.3):c.67+4G>A - KIT_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-/. 1 - c.67+12766T>C r.(=) p.(=) - benign g.55537014T>C - - - KIT_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.68-3C>T r.spl? p.? - likely benign g.55561675C>T g.54695509C>T KIT(NM_000222.2):c.68-3C>T - KIT_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.84T>C r.(?) p.(Ser28=) - likely benign g.55561694T>C g.54695528T>C KIT(NM_000222.2):c.84T>C (p.S28=) - KIT_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.173G>A r.(?) p.(Cys58Tyr) - likely pathogenic g.55561783G>A - - - KIT_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.200C>G r.(?) p.(Thr67Ser) - likely benign g.55561810C>G g.54695644C>G KIT(NM_000222.2):c.200C>G (p.(Thr67Ser)) - KIT_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.575G>A r.(?) p.(Gly192Asp) - VUS g.55564687G>A g.54698521G>A KIT(NM_000222.2):c.575G>A (p.G192D) - KIT_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.817G>A r.(?) p.(Ala273Thr) - likely benign g.55569950G>A g.54703784G>A KIT(NM_000222.2):c.817G>A (p.A273T) - KIT_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.821C>T r.(?) p.(Thr274Met) - likely benign g.55569954C>T g.54703788C>T KIT(NM_000222.2):c.821C>T (p.T274M) - KIT_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.885_893del r.(?) p.(Phe296_Ser298del) - VUS g.55570018_55570026del g.54703852_54703860del KIT(NM_000222.2):c.884_892del (p.(Phe296_Ser298del)) - KIT_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.909A>C r.(?) p.(Thr303=) - likely benign g.55570042A>C g.54703876A>C KIT(NM_000222.2):c.909A>C (p.T303=) - KIT_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1043G>A r.(?) p.(Trp348*) - pathogenic g.55573381G>A - - - KIT_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1045A>G r.(?) p.(Ile349Val) - likely benign g.55573383A>G g.54707217A>G KIT(NM_000222.2):c.1045A>G (p.I349V) - KIT_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.1195G>A r.(?) p.(Val399Ile) - likely benign g.55575669G>A g.54709503G>A KIT(NM_000222.2):c.1195G>A (p.V399I) - KIT_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.1238C>A r.(?) p.(Pro413Gln) - VUS g.55589756C>A g.54723590C>A - - KIT_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1453C>T r.(?) p.(His485Tyr) - likely benign g.55592129C>T g.54725963C>T KIT(NM_000222.2):c.1453C>T (p.(His485Tyr)) - KIT_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1526A>T r.(?) p.(Lys509Ile) - pathogenic g.55592202A>T g.54726036A>T K509I - KIT_000027 1 more item PubMed: Otani 2018 - - Somatic ? - - - - Rosemary Ekong
-?/. 1 - c.1588G>A r.(?) p.(Val530Ile) - likely benign g.55593431G>A g.54727265G>A KIT(NM_000222.2):c.1588G>A (p.V530I) - KIT_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.1621A>C r.(?) p.(Met541Leu) - benign g.55593464A>C g.54727298A>C KIT(NM_000222.2):c.1621A>C (p.M541L) - KIT_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-/. 2 - c.1638A>G r.(?) p.(Lys546=) - benign g.55593481A>G g.54727315A>G KIT(NM_000222.2):c.1638A>G (p.(Lys546=)), KIT(NM_000222.3):c.1638A>G (p.K546=) - KIT_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_VUmc
-?/. 1 - c.1674G>A r.(?) p.(Lys558=) - likely benign g.55593608G>A g.54727442G>A KIT(NM_000222.2):c.1674G>A (p.K558=) - KIT_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1676T>G r.(?) p.(Val559Gly) - likely pathogenic g.55593610T>G g.54727444T>G - - KIT_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1793G>C r.(?) p.(Gly598Ala) - VUS g.55594007G>C - KIT(NM_000222.2):c.1793G>C (p.G598A) - KIT_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1794A>T r.(?) p.(Gly598=) - benign g.55594008A>T - KIT(NM_000222.2):c.1794A>T (p.G598=) - KIT_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.1828G>A r.(?) p.(Gly610Ser) - VUS g.55594042G>A - - - KIT_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2001G>C r.(?) p.(Leu667=) - likely benign g.55595511G>C g.54729345G>C KIT(NM_000222.3):c.2001G>C (p.L667=) - KIT_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.2234-51T>A r.(=) p.(=) - benign g.55597986T>A - KIT(NM_000222.2):c.2234-51T>A - KIT_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
+/. 1 - c.2371A>G r.(?) p.(Arg791Gly) - pathogenic g.55599245A>G - - - KIT_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2381C>A r.(?) p.(Ala794Glu) - VUS g.55599255C>A g.54733089C>A - - KIT_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.2394C>T r.(?) p.(Ile798=) - benign, likely benign g.55599268C>T g.54733102C>T KIT(NM_000222.2):c.2394C>T (p.(Ile798=), p.I798=) - KIT_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 - c.2415_2422del r.(?) p.(Thr806LeufsTer2) ACMG pathogenic (dominant) g.55599289_55599296del g.54733123_54733130del c.2415_2422delCACAAAGA - KIT_000038 ACMG PVS1, PM1, PM2, PP3 PubMed: Marinakis 2021 - - Germline/De novo (untested) - - - - - Jan Traeger-Synodinos
+?/. 1 - c.2459A>G r.(?) p.(Asp820Gly) - likely pathogenic g.55599333A>G g.54733167A>G - - KIT_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2484C>T r.(?) p.(Asn828=) - likely benign g.55599358C>T g.54733192C>T KIT(NM_000222.2):c.2484C>T (p.N828=) - KIT_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2531G>A r.(?) p.(Cys844Tyr) - VUS g.55602710G>A - - - KIT_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.2586G>C r.(?) p.(Leu862=) - benign g.55602765G>C g.54736599G>C - - KIT_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 4 - c.2622G>A r.(?) p.(Pro874=) - likely benign g.55602912G>A g.54736746G>A KIT(NM_000222.2):c.2622G>A (p.P874=, p.(Pro874=)), KIT(NM_000222.3):c.2622G>A (p.P874=) - KIT_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 1 - c.2670C>T r.(?) p.(Leu890=) - likely benign g.55602960C>T g.54736794C>T KIT(NM_000222.2):c.2670C>T (p.L890=) - KIT_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2802+6T>C r.(=) p.(=) - likely benign g.55603452T>C g.54737286T>C KIT(NM_000222.2):c.2802+6T>C (p.(=)) - KIT_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 4 - c.2805T>A r.(?) p.(Ile935=) - likely benign g.55604597T>A g.54738431T>A KIT(NM_000222.2):c.2805T>A (p.(Ile935=), p.I935=), KIT(NM_000222.3):c.2805T>A (p.I935=) - KIT_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/. 1 - c.2847C>T r.(?) p.(Pro949=) - benign g.55604639C>T g.54738473C>T KIT(NM_000222.2):c.2847C>T (p.P949=) - KIT_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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