Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000222.3(KIT):c.1990G>A (p.Gly664Arg)	SNV Germline	Chr4:54728121	Pathogenic	Piebaldism	No Assertion Criteria Provided	CA123500	rs_121913679	1 SubmittersRCV000014855
NM_000222.3(KIT):c.1747G>A (p.Glu583Lys)	SNV Germline	Chr4:54727515	Likely pathogenic	Piebaldism Gastrointestinal stromal tumor	Criteria Provided Single Submitter	CA123509	rs_121913680	2 SubmittersRCV000014861 RCV003525858
NM_000222.3(KIT):c.1879+1G>A	SNV Germline	Chr4:54727928	Pathogenic	Piebaldism Gastrointestinal stromal tumor	Criteria Provided Single Submitter	CA123512	rs_794726675	2 SubmittersRCV000014863 RCV001379752
NM_000222.3(KIT):c.2386A>G (p.Arg796Gly)	SNV Germline	Chr4:54733094	Pathogenic	Piebaldism with sensorineural deafness	No Assertion Criteria Provided	CA123527	rs_121913684	1 SubmittersRCV000014872
NM_000222.3(KIT):c.2539A>C (p.Thr847Pro)	SNV Germline	Chr4:54736552	Pathogenic	Piebaldism	No Assertion Criteria Provided	CA123535	rs_121913687	1 SubmittersRCV000014875
NM_000222.3(KIT):c.1751T>G (p.Phe584Cys)	SNV Germline	Chr4:54727519	Pathogenic	Piebaldism	No Assertion Criteria Provided	CA123543	rs_28933371	1 SubmittersRCV000014878
NM_000222.3(KIT):c.1859T>C (p.Val620Ala)	SNV Germline	Chr4:54727907	Pathogenic	Piebaldism, progressive	No Assertion Criteria Provided	CA129932	rs_387907217	1 SubmittersRCV000029170
NM_000222.3(KIT):c.1694G>T (p.Gly565Val)	SNV Germline	Chr4:54727462	Conflicting classifications of pathogenicity	Condition: not provided Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis Piebaldism KIT-related disorder	Criteria Provided Conflicting Classifications	CA215587	rs_200945282	9 SubmittersRCV000034505 RCV001080921 RCV001012676 RCV001145417 RCV001145419 RCV003944877
NM_000222.3(KIT):c.2263G>A (p.Ala755Thr)	SNV Germline	Chr4:54731900	Conflicting classifications of pathogenicity	Condition: not provided Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis Piebaldism	Criteria Provided Conflicting Classifications	CA215590	rs_201165084	6 SubmittersRCV000034506 RCV000460230 RCV001014978 RCV001147356 RCV001148290
NM_000222.3(KIT):c.821C>T (p.Thr274Met)	SNV Germline	Chr4:54703788	Conflicting classifications of pathogenicity	Condition: not provided Gastrointestinal stromal tumor, familial Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Mastocytosis Piebaldism not specified	Criteria Provided Conflicting Classifications	CA215599	rs_138585275	9 SubmittersRCV000034509 RCV000210905 RCV001027295 RCV001079392 RCV001147185 RCV001147186 RCV001818211
NM_000222.3(KIT):c.910A>G (p.Thr304Ala)	SNV Germline	Chr4:54703877	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Piebaldism Mastocytosis Ovarian cancer	Criteria Provided Conflicting Classifications	CA215605	rs_202052259	7 SubmittersRCV000034511 RCV001018858 RCV001081377 RCV001147190 RCV001148078 RCV003153322
NM_000222.3(KIT):c.1588G>A (p.Val530Ile)	SNV Germline	Chr4:54727265	Conflicting classifications of pathogenicity	not specified Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis Piebaldism Condition: not provided KIT-related disorder	Criteria Provided Conflicting Classifications	CA160350	rs_72550822	11 SubmittersRCV000121314 RCV000234206 RCV001012201 RCV001148177 RCV001147271 RCV001358169 RCV003915210
NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)	SNV Germline	Chr4:54738492	Conflicting classifications of pathogenicity	not specified Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Acute myeloid leukemia Gastrointestinal stromal tumor Germ cell tumor of testis Piebaldism Cutaneous mastocytosis	Criteria Provided Conflicting Classifications	CA160368	rs_587778433	5 SubmittersRCV000121320 RCV000458514 RCV001016829 RCV002483219
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)	SNV Germline	Chr4:54709503	Conflicting classifications of pathogenicity	not specified Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Piebaldism Mastocytosis Condition: not provided KIT-related disorder	Criteria Provided Conflicting Classifications	CA160374	rs_143707288	11 SubmittersRCV000121322 RCV000231519 RCV001010178 RCV001145325 RCV001149637 RCV001567847 RCV003905156
NM_000222.3(KIT):c.532G>A (p.Ala178Thr)	SNV Germline	Chr4:54698478	Conflicting classifications of pathogenicity	Piebaldism Condition: not provided Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome KIT-related disorder	Criteria Provided Conflicting Classifications	CA211566	rs_115585711	9 SubmittersRCV000148560 RCV000514124 RCV001079840 RCV001023936 RCV003952706
NM_000222.3(KIT):c.952A>G (p.Met318Val)	SNV Germline	Chr4:54707124	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis Piebaldism Condition: not provided KIT-related disorder	Criteria Provided Conflicting Classifications	CA211569	rs_143388949	7 SubmittersRCV000228971 RCV001019462 RCV001148079 RCV001148080 RCV003126544 RCV004748598
NM_000222.3(KIT):c.1674G>A (p.Lys558=)	SNV Germline	Chr4:54727442	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Mastocytosis Piebaldism Hereditary cancer-predisposing syndrome Condition: not provided KIT-related disorder	Criteria Provided Conflicting Classifications	CA349845	rs_200375589	7 SubmittersRCV000205733 RCV001149740 RCV001149739 RCV001012605 RCV003221859 RCV003917843
NM_000222.3(KIT):c.2622G>A (p.Pro874=)	SNV Germline	Chr4:54736746	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis Piebaldism Condition: not provided	Criteria Provided Conflicting Classifications	CA348367	rs_55817813	12 SubmittersRCV000204120 RCV001016130 RCV001145418 RCV001145520 RCV001529682
NM_000222.3(KIT):c.464C>T (p.Pro155Leu)	SNV Germline	Chr4:54698410	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor, familial Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Piebaldism Mastocytosis Condition: not provided Acute myeloid leukemia Piebaldism Gastrointestinal stromal tumor Germ cell tumor of testis Cutaneous mastocytosis	Criteria Provided Conflicting Classifications	CA358329	rs_367719489	7 SubmittersRCV000210894 RCV000456468 RCV001022842 RCV001145219 RCV001145220 RCV003480557 RCV005025344
NM_000222.3(KIT):c.200C>G (p.Thr67Ser)	SNV Germline	Chr4:54695644	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Piebaldism Mastocytosis not specified Piebaldism Gastrointestinal stromal tumor Malignant tumor of testis Mastocytosis Acute myeloid leukemia Hereditary cancer-predisposing syndrome Condition: not provided Piebaldism Gastrointestinal stromal tumor KIT-related disorder Hereditary skin disorder	Criteria Provided Conflicting Classifications	CA2923187	rs_144933028	14 SubmittersRCV000234428 RCV000332028 RCV000282556 RCV000503289 RCV000764541 RCV001014023 RCV001753684 RCV001535624 RCV003919917 RCV005625463
NM_000222.3(KIT):c.878A>G (p.Asn293Ser)	SNV Germline	Chr4:54703845	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Piebaldism Mastocytosis Condition: not provided KIT-related disorder	Criteria Provided Conflicting Classifications	CA2923332	rs_137909416	7 SubmittersRCV000231125 RCV001018319 RCV001147187 RCV001147188 RCV001355985 RCV003967615
NM_000222.3(KIT):c.1109A>G (p.Asn370Ser)	SNV Germline	Chr4:54707281	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Piebaldism Cutaneous mastocytosis Gastrointestinal stromal tumor Germ cell tumor of testis Acute myeloid leukemia Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10582257	rs_878853758	4 SubmittersRCV000229114 RCV005025379 RCV005365176
NM_000222.3(KIT):c.1383A>G (p.Thr461=)	SNV Germline	Chr4:54725893	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis Piebaldism Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA2923480	rs_151016327	9 SubmittersRCV000232720 RCV001011293 RCV001147269 RCV001147270 RCV001312041 RCV001818565
NM_000222.3(KIT):c.1594G>A (p.Val532Ile)	SNV Germline	Chr4:54727271	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis Piebaldism not specified Condition: not provided KIT-related disorder	Criteria Provided Conflicting Classifications	CA2923528	rs_55792975	8 SubmittersRCV000227916 RCV001012312 RCV001148178 RCV001148179 RCV003150989 RCV003237783 RCV004748673
NM_000222.3(KIT):c.2118T>G (p.Leu706=)	SNV Germline	Chr4:54729462	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis Piebaldism Condition: not provided	Criteria Provided Conflicting Classifications	CA2923650	rs_766840704	4 SubmittersRCV000232109 RCV001014321 RCV001147352 RCV001147353 RCV005243164
NM_000222.3(KIT):c.2349C>T (p.Leu783=)	SNV Germline	Chr4:54731986	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis Piebaldism Condition: not provided KIT-related disorder	Criteria Provided Conflicting Classifications	CA2923718	rs_151046591	6 SubmittersRCV000233602 RCV001015251 RCV001148291 RCV001148292 RCV003437015 RCV003947743
NM_000222.3(KIT):c.2484C>T (p.Asn828=)	SNV Germline	Chr4:54733192	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Piebaldism Mastocytosis not specified Condition: not provided	Criteria Provided Conflicting Classifications	CA2923774	rs_141347955	5 SubmittersRCV000226947 RCV001015710 RCV001149854 RCV001149855 RCV003150990 RCV003992240
NM_000222.3(KIT):c.2670C>T (p.Leu890=)	SNV Germline	Chr4:54736794	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Piebaldism Mastocytosis Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2923821	rs_745967881	5 SubmittersRCV000234366 RCV000313788 RCV000354568 RCV001016271 RCV005641550
NM_000222.3(KIT):c.2802+9A>G	SNV Germline	Chr4:54737289	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Mastocytosis Piebaldism KIT-related disorder	Criteria Provided Conflicting Classifications	CA2923857	rs_369450271	3 SubmittersRCV000232187 RCV000263344 RCV000299829 RCV003967614
NM_000222.3(KIT):c.-14T>A	SNV Germline	Chr4:54658001	Conflicting classifications of pathogenicity	not specified Mastocytosis Gastrointestinal stromal tumor Piebaldism Condition: not provided	Criteria Provided Conflicting Classifications	CA2923108	rs_140909964	3 SubmittersRCV000244072 RCV000295737 RCV000385308 RCV000330786 RCV003237804
NM_000222.3(KIT):c.*252G>T	SNV Germline	Chr4:54738809	Conflicting classifications of pathogenicity	Piebaldism Gastrointestinal stromal tumor Mastocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA10618857	rs_376694515	2 SubmittersRCV000303585 RCV000338742 RCV000393784 RCV003430890
NM_000222.3(KIT):c.301C>T (p.His101Tyr)	SNV Germline	Chr4:54695745	Conflicting classifications of pathogenicity	Piebaldism Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis	Criteria Provided Conflicting Classifications	CA2923199	rs_781130745	4 SubmittersRCV000308520 RCV000343525 RCV002436209 RCV000408357
NM_000222.3(KIT):c.2000T>G (p.Leu667Arg)	SNV Germline	Chr4:54729344	Likely pathogenic	Piebaldism	Criteria Provided Single Submitter	CA356909166	rs_1560419312	1 SubmittersRCV000522612
NM_000222.3(KIT):c.1618G>C (p.Val540Leu)	SNV Germline	Chr4:54727295	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Piebaldism Mastocytosis Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2923536	rs_756179543	5 SubmittersRCV000456229 RCV001148180 RCV001148181 RCV005348127 RCV004722785
NM_000222.3(KIT):c.2104C>G (p.Leu702Val)	SNV Germline	Chr4:54729448	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Gastrointestinal stromal tumor Piebaldism Acute myeloid leukemia Mastocytosis Malignant tumor of testis Hereditary cancer-predisposing syndrome KIT-related disorder Condition: not provided	Criteria Provided Conflicting Classifications	CA2923646	rs_768847037	5 SubmittersRCV000458317 RCV000764545 RCV001014447 RCV004748776 RCV004722787
NM_000222.3(KIT):c.148G>T (p.Val50Leu)	SNV Germline	Chr4:54695592	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Piebaldism Mastocytosis Condition: not provided not specified Piebaldism Acute myeloid leukemia Germ cell tumor of testis Gastrointestinal stromal tumor Cutaneous mastocytosis	Criteria Provided Conflicting Classifications	CA2923171	rs_200950545	8 SubmittersRCV000471765 RCV001011866 RCV001147968 RCV001147969 RCV003153627 RCV005434937 RCV005027520
NM_000222.3(KIT):c.2663G>A (p.Arg888Gln)	SNV Germline	Chr4:54736787	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Condition: not provided Piebaldism Acute myeloid leukemia Germ cell tumor of testis Gastrointestinal stromal tumor Cutaneous mastocytosis	Criteria Provided Conflicting Classifications	CA2923820	rs_776681643	5 SubmittersRCV000463362 RCV001016151 RCV002461194 RCV005033985
NM_000222.3(KIT):c.2848G>A (p.Val950Met)	SNV Germline	Chr4:54738474	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Piebaldism Mastocytosis Condition: not provided Cutaneous mastocytosis Gastrointestinal stromal tumor Piebaldism Acute myeloid leukemia Germ cell tumor of testis	Criteria Provided Conflicting Classifications	CA2923882	rs_146374006	6 SubmittersRCV000466972 RCV001016778 RCV001147478 RCV001148395 RCV003313074 RCV005033984
NM_000222.3(KIT):c.252G>A (p.Thr84=)	SNV Germline	Chr4:54695696	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Mastocytosis Piebaldism Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2923194	rs_56411694	3 SubmittersRCV000458149 RCV001149524 RCV001149525 RCV002455882
NM_000222.3(KIT):c.2234-3C>T	SNV Germline	Chr4:54731868	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Mastocytosis Piebaldism Hereditary cancer-predisposing syndrome KIT-related disorder	Criteria Provided Conflicting Classifications	CA2923701	rs_370131461	4 SubmittersRCV000460427 RCV001147354 RCV001147355 RCV002429518 RCV003942490
NM_000222.3(KIT):c.2920G>A (p.Asp974Asn)	SNV Germline	Chr4:54738546	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Condition: not provided Cutaneous mastocytosis Gastrointestinal stromal tumor Piebaldism Acute myeloid leukemia Germ cell tumor of testis	Criteria Provided Conflicting Classifications	CA2923902	rs_72549297	7 SubmittersRCV000460323 RCV002258913 RCV003313073 RCV005027519
NM_000222.3(KIT):c.978C>T (p.Asn326=)	SNV Germline	Chr4:54707150	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Piebaldism Mastocytosis Condition: not provided KIT-related disorder	Criteria Provided Conflicting Classifications	CA2923354	rs_148594615	5 SubmittersRCV000549192 RCV001019744 RCV001148081 RCV001148082 RCV005243273 RCV003942753
NM_000222.3(KIT):c.302A>G (p.His101Arg)	SNV Germline	Chr4:54695746	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Gastrointestinal stromal tumor Mastocytosis Malignant tumor of testis Piebaldism Acute myeloid leukemia Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA356897283	rs_1274601103	4 SubmittersRCV000548226 RCV000764542 RCV001018180 RCV004592557
NM_000222.3(KIT):c.749A>G (p.Asn250Ser)	SNV Germline	Chr4:54699759	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Cutaneous mastocytosis Piebaldism Acute myeloid leukemia Germ cell tumor of testis	Criteria Provided Conflicting Classifications	CA2923302	rs_748527429	4 SubmittersRCV000540047 RCV001026500 RCV005034089
NM_000222.3(KIT):c.2562C>G (p.Ser854=)	SNV Germline	Chr4:54736575	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Piebaldism Mastocytosis Hereditary cancer-predisposing syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA2923793	rs_750039813	4 SubmittersRCV000633777 RCV001149857 RCV001149856 RCV002458012 RCV004768485
NM_000222.3(KIT):c.1185C>A (p.Ser395=)	SNV Germline	Chr4:54709493	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Mastocytosis Piebaldism Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA439288776	rs_755864184	3 SubmittersRCV000633857 RCV001145323 RCV001145324 RCV002331126
NM_000222.3(KIT):c.1861G>A (p.Ala621Thr)	SNV Germline/somatic	Chr4:54727909	Pathogenic/Likely pathogenic	Gastrointestinal stromal tumor Piebaldism IDH-wildtype glioblastoma	Criteria Provided Multiple Submitters No Conflicts	CA356908197	rs_1560418178	3 SubmittersRCV000685166 RCV004819229 RCV006254136
NM_000222.3(KIT):c.1264G>A (p.Val422Met)	SNV Germline	Chr4:54723616	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Mastocytosis Piebaldism	Criteria Provided Conflicting Classifications	CA356905446	rs_1560414398	3 SubmittersRCV000699413 RCV001010625 RCV001145326 RCV001145327
NM_000222.3(KIT):c.2836C>T (p.Arg946Ter)	SNV Germline	Chr4:54738462	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Mastocytosis Piebaldism Gastrointestinal stromal tumor Malignant tumor of testis Acute myeloid leukemia Hereditary cancer-predisposing syndrome KIT-related disorder Condition: not provided Piebaldism Germ cell tumor of testis Cutaneous mastocytosis Gastrointestinal stromal tumor Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA2923879	rs_139000082	7 SubmittersRCV000699144 RCV000764547 RCV002440498 RCV003403623 RCV004546555 RCV005027868
NM_000222.3(KIT):c.78A>C (p.Gln26His)	SNV Germline	Chr4:54695522	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Piebaldism Mastocytosis KIT-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA2923152	rs_764782713	5 SubmittersRCV001063511 RCV001147077 RCV001147078 RCV004749598 RCV006387138
NM_000222.3(KIT):c.867G>A (p.Met289Ile)	SNV Germline	Chr4:54703834	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Condition: not provided Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Piebaldism Germ cell tumor of testis Cutaneous mastocytosis Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA356899969	rs_1297145844	4 SubmittersRCV001064446 RCV003329373 RCV002445333 RCV005029651
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)	SNV Germline	Chr4:54736577	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Condition: not provided Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Acute myeloid leukemia Piebaldism Cutaneous mastocytosis Germ cell tumor of testis	Criteria Provided Conflicting Classifications	CA356913296	rs_1722933723	4 SubmittersRCV001063359 RCV002255175 RCV002429705 RCV003224519
NM_000222.3(KIT):c.*299G>C	SNV Germline	Chr4:54738856	Conflicting classifications of pathogenicity	Piebaldism Gastrointestinal stromal tumor Mastocytosis Condition: not provided	Criteria Provided Conflicting Classifications	CA96884102	rs_185479436	3 SubmittersRCV001145737 RCV001145738 RCV001145739 RCV001593291
NM_000222.3(KIT):c.*929G>A	SNV Germline	Chr4:54739486	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Piebaldism Mastocytosis	Criteria Provided Conflicting Classifications	CA96884611	rs_572274912	1 SubmittersRCV001145846 RCV001145847 RCV001145848
NM_000222.3(KIT):c.*1834A>G	SNV Germline	Chr4:54740391	Conflicting classifications of pathogenicity	Piebaldism Mastocytosis Gastrointestinal stromal tumor Condition: not provided	Criteria Provided Conflicting Classifications	CA96885164	rs_186953545	2 SubmittersRCV001148738 RCV001148739 RCV001148740 RCV003438680
NM_000222.3(KIT):c.67+12C>T	SNV Germline	Chr4:54658093	Conflicting classifications of pathogenicity	Mastocytosis Gastrointestinal stromal tumor Piebaldism	Criteria Provided Conflicting Classifications	CA2923128	rs_374618962	2 SubmittersRCV001147074 RCV001147075 RCV001147076
NM_000222.3(KIT):c.2138C>T (p.Ser713Phe)	SNV Germline	Chr4:54729482	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Piebaldism Germ cell tumor of testis Gastrointestinal stromal tumor Cutaneous mastocytosis Acute myeloid leukemia	Criteria Provided Conflicting Classifications	CA2923654	rs_775274159	3 SubmittersRCV001218924 RCV002429933 RCV005029780
NM_000222.3(KIT):c.555T>G (p.His185Gln)	SNV Germline	Chr4:54698501	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Hereditary cancer-predisposing syndrome Gastrointestinal stromal tumor Cutaneous mastocytosis Acute myeloid leukemia Germ cell tumor of testis Piebaldism	Criteria Provided Conflicting Classifications	CA356897895	rs_1227095960	3 SubmittersRCV001225730 RCV002348760 RCV005029788
NM_000222.3(KIT):c.1231+13A>T	SNV Germline	Chr4:54709552	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Germ cell tumor of testis Gastrointestinal stromal tumor Piebaldism Acute myeloid leukemia Cutaneous mastocytosis	Criteria Provided Conflicting Classifications	CA2923415	rs_765419741	2 SubmittersRCV002015714 RCV005025624
NM_000222.3(KIT):c.590C>T (p.Ser197Leu)	SNV Germline	Chr4:54698536	Conflicting classifications of pathogenicity	Gastrointestinal stromal tumor Cutaneous mastocytosis Piebaldism Condition: not provided	Criteria Provided Conflicting Classifications	CA356898064	rs_2109674601	2 SubmittersRCV002262178 RCV004763347
NM_000222.3(KIT):c.2700T>A (p.Tyr900Ter)	SNV Unknown	Chr4:54737178	Pathogenic	Piebaldism	Criteria Provided Single Submitter	CA356914177	rs_2475585321	1 SubmittersRCV003991087
NM_000222.3(KIT):c.1647G>C (p.Gln549His)	SNV Germline	Chr4:54727324	Likely pathogenic	Piebaldism	Criteria Provided Single Submitter			1 SubmittersRCV005416176
NM_000222.3(KIT):c.1880-1G>A	SNV Germline	Chr4:54728010	Pathogenic	Piebaldism	Criteria Provided Single Submitter			1 SubmittersRCV005885681
NM_000222.3(KIT):c.2424T>G (p.Ile808Met)	SNV Germline	Chr4:54733132	Pathogenic	Piebaldism	Criteria Provided Single Submitter			1 SubmittersRCV006272234

NM_000222.3(KIT):c.1990G>A (p.Gly664Arg)

SNV
Germline

Chr4:54728121

Pathogenic

Piebaldism

No Assertion Criteria Provided

CA123500

rs_121913679

1 SubmittersRCV000014855

NM_000222.3(KIT):c.1747G>A (p.Glu583Lys)

SNV
Germline

Chr4:54727515

Likely pathogenic

Piebaldism
Gastrointestinal stromal tumor

Criteria Provided
Single Submitter

CA123509

rs_121913680

2 SubmittersRCV000014861 RCV003525858

NM_000222.3(KIT):c.1879+1G>A

SNV
Germline

Chr4:54727928

Pathogenic

Piebaldism
Gastrointestinal stromal tumor

Criteria Provided
Single Submitter

CA123512

rs_794726675

2 SubmittersRCV000014863 RCV001379752

NM_000222.3(KIT):c.2386A>G (p.Arg796Gly)

SNV
Germline

Chr4:54733094

Pathogenic

Piebaldism with sensorineural deafness

No Assertion Criteria Provided

CA123527

rs_121913684

1 SubmittersRCV000014872

NM_000222.3(KIT):c.2539A>C (p.Thr847Pro)

SNV
Germline

Chr4:54736552

Pathogenic

Piebaldism

No Assertion Criteria Provided

CA123535

rs_121913687

1 SubmittersRCV000014875

NM_000222.3(KIT):c.1751T>G (p.Phe584Cys)

SNV
Germline

Chr4:54727519

Pathogenic

Piebaldism

No Assertion Criteria Provided

CA123543

rs_28933371

1 SubmittersRCV000014878

NM_000222.3(KIT):c.1859T>C (p.Val620Ala)

SNV
Germline

Chr4:54727907

Pathogenic

Piebaldism, progressive

No Assertion Criteria Provided

CA129932

rs_387907217

1 SubmittersRCV000029170

NM_000222.3(KIT):c.1694G>T (p.Gly565Val)

SNV
Germline

Chr4:54727462

Conflicting classifications of pathogenicity

Condition: not provided
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA215587

rs_200945282

9 SubmittersRCV000034505 RCV001080921 RCV001012676 RCV001145417 RCV001145419 RCV003944877

NM_000222.3(KIT):c.2263G>A (p.Ala755Thr)

SNV
Germline

Chr4:54731900

Conflicting classifications of pathogenicity

Condition: not provided
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism

Criteria Provided
Conflicting Classifications

CA215590

rs_201165084

6 SubmittersRCV000034506 RCV000460230 RCV001014978 RCV001147356 RCV001148290

NM_000222.3(KIT):c.821C>T (p.Thr274Met)

SNV
Germline

Chr4:54703788

Conflicting classifications of pathogenicity

Condition: not provided
Gastrointestinal stromal tumor, familial
Hereditary cancer-predisposing syndrome
Gastrointestinal stromal tumor
Mastocytosis
Piebaldism
not specified

Criteria Provided
Conflicting Classifications

CA215599

rs_138585275

9 SubmittersRCV000034509 RCV000210905 RCV001027295 RCV001079392 RCV001147185 RCV001147186 RCV001818211

NM_000222.3(KIT):c.910A>G (p.Thr304Ala)

SNV
Germline

Chr4:54703877

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Gastrointestinal stromal tumor
Piebaldism
Mastocytosis
Ovarian cancer

Criteria Provided
Conflicting Classifications

CA215605

rs_202052259

7 SubmittersRCV000034511 RCV001018858 RCV001081377 RCV001147190 RCV001148078 RCV003153322

NM_000222.3(KIT):c.1588G>A (p.Val530Ile)

SNV
Germline

Chr4:54727265

Conflicting classifications of pathogenicity

not specified
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism
Condition: not provided
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA160350

rs_72550822

11 SubmittersRCV000121314 RCV000234206 RCV001012201 RCV001148177 RCV001147271 RCV001358169 RCV003915210

NM_000222.3(KIT):c.2866C>T (p.Arg956Trp)

SNV
Germline

Chr4:54738492

Conflicting classifications of pathogenicity

not specified
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Acute myeloid leukemia
Gastrointestinal stromal tumor
Germ cell tumor of testis
Piebaldism
Cutaneous mastocytosis

Criteria Provided
Conflicting Classifications

CA160368

rs_587778433

5 SubmittersRCV000121320 RCV000458514 RCV001016829 RCV002483219

NM_000222.3(KIT):c.1195G>A (p.Val399Ile)

SNV
Germline

Chr4:54709503

Conflicting classifications of pathogenicity

not specified
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Piebaldism
Mastocytosis
Condition: not provided
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA160374

rs_143707288

11 SubmittersRCV000121322 RCV000231519 RCV001010178 RCV001145325 RCV001149637 RCV001567847 RCV003905156

NM_000222.3(KIT):c.532G>A (p.Ala178Thr)

SNV
Germline

Chr4:54698478

Conflicting classifications of pathogenicity

Piebaldism
Condition: not provided
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA211566

rs_115585711

9 SubmittersRCV000148560 RCV000514124 RCV001079840 RCV001023936 RCV003952706

NM_000222.3(KIT):c.952A>G (p.Met318Val)

SNV
Germline

Chr4:54707124

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism
Condition: not provided
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA211569

rs_143388949

7 SubmittersRCV000228971 RCV001019462 RCV001148079 RCV001148080 RCV003126544 RCV004748598

NM_000222.3(KIT):c.1674G>A (p.Lys558=)

SNV
Germline

Chr4:54727442

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Mastocytosis
Piebaldism
Hereditary cancer-predisposing syndrome
Condition: not provided
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA349845

rs_200375589

7 SubmittersRCV000205733 RCV001149740 RCV001149739 RCV001012605 RCV003221859 RCV003917843

NM_000222.3(KIT):c.2622G>A (p.Pro874=)

SNV
Germline

Chr4:54736746

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA348367

rs_55817813

12 SubmittersRCV000204120 RCV001016130 RCV001145418 RCV001145520 RCV001529682

NM_000222.3(KIT):c.464C>T (p.Pro155Leu)

SNV
Germline

Chr4:54698410

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor, familial
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Piebaldism
Mastocytosis
Condition: not provided
Acute myeloid leukemia
Piebaldism
Gastrointestinal stromal tumor
Germ cell tumor of testis
Cutaneous mastocytosis

Criteria Provided
Conflicting Classifications

CA358329

rs_367719489

7 SubmittersRCV000210894 RCV000456468 RCV001022842 RCV001145219 RCV001145220 RCV003480557 RCV005025344

NM_000222.3(KIT):c.200C>G (p.Thr67Ser)

SNV
Germline

Chr4:54695644

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Piebaldism
Mastocytosis
not specified
Piebaldism
Gastrointestinal stromal tumor
Malignant tumor of testis
Mastocytosis
Acute myeloid leukemia
Hereditary cancer-predisposing syndrome
Condition: not provided
Piebaldism
Gastrointestinal stromal tumor
KIT-related disorder
Hereditary skin disorder

Criteria Provided
Conflicting Classifications

CA2923187

rs_144933028

14 SubmittersRCV000234428 RCV000332028 RCV000282556 RCV000503289 RCV000764541 RCV001014023 RCV001753684 RCV001535624 RCV003919917 RCV005625463

NM_000222.3(KIT):c.878A>G (p.Asn293Ser)

SNV
Germline

Chr4:54703845

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Piebaldism
Mastocytosis
Condition: not provided
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA2923332

rs_137909416

7 SubmittersRCV000231125 RCV001018319 RCV001147187 RCV001147188 RCV001355985 RCV003967615

NM_000222.3(KIT):c.1109A>G (p.Asn370Ser)

SNV
Germline

Chr4:54707281

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Piebaldism
Cutaneous mastocytosis
Gastrointestinal stromal tumor
Germ cell tumor of testis
Acute myeloid leukemia
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA10582257

rs_878853758

4 SubmittersRCV000229114 RCV005025379 RCV005365176

NM_000222.3(KIT):c.1383A>G (p.Thr461=)

SNV
Germline

Chr4:54725893

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

CA2923480

rs_151016327

9 SubmittersRCV000232720 RCV001011293 RCV001147269 RCV001147270 RCV001312041 RCV001818565

NM_000222.3(KIT):c.1594G>A (p.Val532Ile)

SNV
Germline

Chr4:54727271

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism
not specified
Condition: not provided
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA2923528

rs_55792975

8 SubmittersRCV000227916 RCV001012312 RCV001148178 RCV001148179 RCV003150989 RCV003237783 RCV004748673

NM_000222.3(KIT):c.2118T>G (p.Leu706=)

SNV
Germline

Chr4:54729462

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2923650

rs_766840704

4 SubmittersRCV000232109 RCV001014321 RCV001147352 RCV001147353 RCV005243164

NM_000222.3(KIT):c.2349C>T (p.Leu783=)

SNV
Germline

Chr4:54731986

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism
Condition: not provided
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA2923718

rs_151046591

6 SubmittersRCV000233602 RCV001015251 RCV001148291 RCV001148292 RCV003437015 RCV003947743

NM_000222.3(KIT):c.2484C>T (p.Asn828=)

SNV
Germline

Chr4:54733192

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Piebaldism
Mastocytosis
not specified
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2923774

rs_141347955

5 SubmittersRCV000226947 RCV001015710 RCV001149854 RCV001149855 RCV003150990 RCV003992240

NM_000222.3(KIT):c.2670C>T (p.Leu890=)

SNV
Germline

Chr4:54736794

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Piebaldism
Mastocytosis
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2923821

rs_745967881

5 SubmittersRCV000234366 RCV000313788 RCV000354568 RCV001016271 RCV005641550

NM_000222.3(KIT):c.2802+9A>G

SNV
Germline

Chr4:54737289

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Mastocytosis
Piebaldism
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA2923857

rs_369450271

3 SubmittersRCV000232187 RCV000263344 RCV000299829 RCV003967614

NM_000222.3(KIT):c.-14T>A

SNV
Germline

Chr4:54658001

Conflicting classifications of pathogenicity

not specified
Mastocytosis
Gastrointestinal stromal tumor
Piebaldism
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2923108

rs_140909964

3 SubmittersRCV000244072 RCV000295737 RCV000385308 RCV000330786 RCV003237804

NM_000222.3(KIT):c.*252G>T

SNV
Germline

Chr4:54738809

Conflicting classifications of pathogenicity

Piebaldism
Gastrointestinal stromal tumor
Mastocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10618857

rs_376694515

2 SubmittersRCV000303585 RCV000338742 RCV000393784 RCV003430890

NM_000222.3(KIT):c.301C>T (p.His101Tyr)

SNV
Germline

Chr4:54695745

Conflicting classifications of pathogenicity

Piebaldism
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis

Criteria Provided
Conflicting Classifications

CA2923199

rs_781130745

4 SubmittersRCV000308520 RCV000343525 RCV002436209 RCV000408357

NM_000222.3(KIT):c.2000T>G (p.Leu667Arg)

SNV
Germline

Chr4:54729344

Likely pathogenic

Piebaldism

Criteria Provided
Single Submitter

CA356909166

rs_1560419312

1 SubmittersRCV000522612

NM_000222.3(KIT):c.1618G>C (p.Val540Leu)

SNV
Germline

Chr4:54727295

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Piebaldism
Mastocytosis
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2923536

rs_756179543

5 SubmittersRCV000456229 RCV001148180 RCV001148181 RCV005348127 RCV004722785

NM_000222.3(KIT):c.2104C>G (p.Leu702Val)

SNV
Germline

Chr4:54729448

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Gastrointestinal stromal tumor
Piebaldism
Acute myeloid leukemia
Mastocytosis
Malignant tumor of testis
Hereditary cancer-predisposing syndrome
KIT-related disorder
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2923646

rs_768847037

5 SubmittersRCV000458317 RCV000764545 RCV001014447 RCV004748776 RCV004722787

NM_000222.3(KIT):c.148G>T (p.Val50Leu)

SNV
Germline

Chr4:54695592

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Piebaldism
Mastocytosis
Condition: not provided
not specified
Piebaldism
Acute myeloid leukemia
Germ cell tumor of testis
Gastrointestinal stromal tumor
Cutaneous mastocytosis

Criteria Provided
Conflicting Classifications

CA2923171

rs_200950545

8 SubmittersRCV000471765 RCV001011866 RCV001147968 RCV001147969 RCV003153627 RCV005434937 RCV005027520

NM_000222.3(KIT):c.2663G>A (p.Arg888Gln)

SNV
Germline

Chr4:54736787

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Condition: not provided
Piebaldism
Acute myeloid leukemia
Germ cell tumor of testis
Gastrointestinal stromal tumor
Cutaneous mastocytosis

Criteria Provided
Conflicting Classifications

CA2923820

rs_776681643

5 SubmittersRCV000463362 RCV001016151 RCV002461194 RCV005033985

NM_000222.3(KIT):c.2848G>A (p.Val950Met)

SNV
Germline

Chr4:54738474

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Piebaldism
Mastocytosis
Condition: not provided
Cutaneous mastocytosis
Gastrointestinal stromal tumor
Piebaldism
Acute myeloid leukemia
Germ cell tumor of testis

Criteria Provided
Conflicting Classifications

CA2923882

rs_146374006

6 SubmittersRCV000466972 RCV001016778 RCV001147478 RCV001148395 RCV003313074 RCV005033984

NM_000222.3(KIT):c.252G>A (p.Thr84=)

SNV
Germline

Chr4:54695696

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Mastocytosis
Piebaldism
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2923194

rs_56411694

3 SubmittersRCV000458149 RCV001149524 RCV001149525 RCV002455882

NM_000222.3(KIT):c.2234-3C>T

SNV
Germline

Chr4:54731868

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Mastocytosis
Piebaldism
Hereditary cancer-predisposing syndrome
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA2923701

rs_370131461

4 SubmittersRCV000460427 RCV001147354 RCV001147355 RCV002429518 RCV003942490

NM_000222.3(KIT):c.2920G>A (p.Asp974Asn)

SNV
Germline

Chr4:54738546

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Condition: not provided
Cutaneous mastocytosis
Gastrointestinal stromal tumor
Piebaldism
Acute myeloid leukemia
Germ cell tumor of testis

Criteria Provided
Conflicting Classifications

CA2923902

rs_72549297

7 SubmittersRCV000460323 RCV002258913 RCV003313073 RCV005027519

NM_000222.3(KIT):c.978C>T (p.Asn326=)

SNV
Germline

Chr4:54707150

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Piebaldism
Mastocytosis
Condition: not provided
KIT-related disorder

Criteria Provided
Conflicting Classifications

CA2923354

rs_148594615

5 SubmittersRCV000549192 RCV001019744 RCV001148081 RCV001148082 RCV005243273 RCV003942753

NM_000222.3(KIT):c.302A>G (p.His101Arg)

SNV
Germline

Chr4:54695746

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Gastrointestinal stromal tumor
Mastocytosis
Malignant tumor of testis
Piebaldism
Acute myeloid leukemia
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA356897283

rs_1274601103

4 SubmittersRCV000548226 RCV000764542 RCV001018180 RCV004592557

NM_000222.3(KIT):c.749A>G (p.Asn250Ser)

SNV
Germline

Chr4:54699759

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Gastrointestinal stromal tumor
Cutaneous mastocytosis
Piebaldism
Acute myeloid leukemia
Germ cell tumor of testis

Criteria Provided
Conflicting Classifications

CA2923302

rs_748527429

4 SubmittersRCV000540047 RCV001026500 RCV005034089

NM_000222.3(KIT):c.2562C>G (p.Ser854=)

SNV
Germline

Chr4:54736575

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Piebaldism
Mastocytosis
Hereditary cancer-predisposing syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA2923793

rs_750039813

4 SubmittersRCV000633777 RCV001149857 RCV001149856 RCV002458012 RCV004768485

NM_000222.3(KIT):c.1185C>A (p.Ser395=)

SNV
Germline

Chr4:54709493

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Mastocytosis
Piebaldism
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA439288776

rs_755864184

3 SubmittersRCV000633857 RCV001145323 RCV001145324 RCV002331126

NM_000222.3(KIT):c.1861G>A (p.Ala621Thr)

SNV
Germline/somatic

Chr4:54727909

Pathogenic/Likely pathogenic

Gastrointestinal stromal tumor
Piebaldism
IDH-wildtype glioblastoma

Criteria Provided
Multiple Submitters
No Conflicts

CA356908197

rs_1560418178

3 SubmittersRCV000685166 RCV004819229 RCV006254136

NM_000222.3(KIT):c.1264G>A (p.Val422Met)

SNV
Germline

Chr4:54723616

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism

Criteria Provided
Conflicting Classifications

CA356905446

rs_1560414398

3 SubmittersRCV000699413 RCV001010625 RCV001145326 RCV001145327

NM_000222.3(KIT):c.2836C>T (p.Arg946Ter)

SNV
Germline

Chr4:54738462

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Mastocytosis
Piebaldism
Gastrointestinal stromal tumor
Malignant tumor of testis
Acute myeloid leukemia
Hereditary cancer-predisposing syndrome
KIT-related disorder
Condition: not provided
Piebaldism
Germ cell tumor of testis
Cutaneous mastocytosis
Gastrointestinal stromal tumor
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA2923879

rs_139000082

7 SubmittersRCV000699144 RCV000764547 RCV002440498 RCV003403623 RCV004546555 RCV005027868

NM_000222.3(KIT):c.78A>C (p.Gln26His)

SNV
Germline

Chr4:54695522

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Piebaldism
Mastocytosis
KIT-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA2923152

rs_764782713

5 SubmittersRCV001063511 RCV001147077 RCV001147078 RCV004749598 RCV006387138

NM_000222.3(KIT):c.867G>A (p.Met289Ile)

SNV
Germline

Chr4:54703834

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Condition: not provided
Hereditary cancer-predisposing syndrome
Gastrointestinal stromal tumor
Piebaldism
Germ cell tumor of testis
Cutaneous mastocytosis
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA356899969

rs_1297145844

4 SubmittersRCV001064446 RCV003329373 RCV002445333 RCV005029651

NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)

SNV
Germline

Chr4:54736577

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Condition: not provided
Hereditary cancer-predisposing syndrome
Gastrointestinal stromal tumor
Acute myeloid leukemia
Piebaldism
Cutaneous mastocytosis
Germ cell tumor of testis

Criteria Provided
Conflicting Classifications

CA356913296

rs_1722933723

4 SubmittersRCV001063359 RCV002255175 RCV002429705 RCV003224519

NM_000222.3(KIT):c.*299G>C

SNV
Germline

Chr4:54738856

Conflicting classifications of pathogenicity

Piebaldism
Gastrointestinal stromal tumor
Mastocytosis
Condition: not provided

Criteria Provided
Conflicting Classifications

CA96884102

rs_185479436

3 SubmittersRCV001145737 RCV001145738 RCV001145739 RCV001593291

NM_000222.3(KIT):c.*929G>A

SNV
Germline

Chr4:54739486

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Piebaldism
Mastocytosis

Criteria Provided
Conflicting Classifications

CA96884611

rs_572274912

1 SubmittersRCV001145846 RCV001145847 RCV001145848

NM_000222.3(KIT):c.*1834A>G

SNV
Germline

Chr4:54740391

Conflicting classifications of pathogenicity

Piebaldism
Mastocytosis
Gastrointestinal stromal tumor
Condition: not provided

Criteria Provided
Conflicting Classifications

CA96885164

rs_186953545

2 SubmittersRCV001148738 RCV001148739 RCV001148740 RCV003438680

NM_000222.3(KIT):c.67+12C>T

SNV
Germline

Chr4:54658093

Conflicting classifications of pathogenicity

Mastocytosis
Gastrointestinal stromal tumor
Piebaldism

Criteria Provided
Conflicting Classifications

CA2923128

rs_374618962

2 SubmittersRCV001147074 RCV001147075 RCV001147076

NM_000222.3(KIT):c.2138C>T (p.Ser713Phe)

SNV
Germline

Chr4:54729482

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Piebaldism
Germ cell tumor of testis
Gastrointestinal stromal tumor
Cutaneous mastocytosis
Acute myeloid leukemia

Criteria Provided
Conflicting Classifications

CA2923654

rs_775274159

3 SubmittersRCV001218924 RCV002429933 RCV005029780

NM_000222.3(KIT):c.555T>G (p.His185Gln)

SNV
Germline

Chr4:54698501

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Gastrointestinal stromal tumor
Cutaneous mastocytosis
Acute myeloid leukemia
Germ cell tumor of testis
Piebaldism

Criteria Provided
Conflicting Classifications

CA356897895

rs_1227095960

3 SubmittersRCV001225730 RCV002348760 RCV005029788

NM_000222.3(KIT):c.1231+13A>T

SNV
Germline

Chr4:54709552

Conflicting classifications of pathogenicity

Gastrointestinal stromal tumor
Germ cell tumor of testis
Gastrointestinal stromal tumor
Piebaldism
Acute myeloid leukemia
Cutaneous mastocytosis

Criteria Provided
Conflicting Classifications

CA2923415

rs_765419741