Total 52 pathogenic variants reported for Piebaldism 
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 SubmittersRCV000014861RCV003525858
NM_000222.3(KIT):c.1879+1G>A SNV
Germline		 Chr4:54727928 Likely pathogenic Piebaldism
Gastrointestinal stromal tumor		 Criteria Provided
Single Submitter
 CA123512 rs_794726675

2 SubmittersRCV000014863RCV001379752
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
Hereditary cancer-predisposing syndrome
Gastrointestinal stromal tumor
Mastocytosis
Piebaldism
KIT-related disorder		 Criteria Provided
Conflicting Classifications
 CA215587 rs_200945282

9 SubmittersRCV000034505RCV001012676RCV001080921RCV001145417RCV001145419RCV003944877
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

5 SubmittersRCV000034506RCV000460230RCV001014978RCV001147356RCV001148290
NM_000222.3(KIT):c.821C>T (p.Thr274Met) SNV
Germline		 Chr4:54703788 Conflicting classifications of pathogenicity Condition: not provided
Gastrointestinal stromal tumor, familial
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism
not specified		 Criteria Provided
Conflicting Classifications
 CA215599 rs_138585275

9 SubmittersRCV000034509RCV000210905RCV001079392RCV001027295RCV001147185RCV001147186RCV001818211
NM_000222.3(KIT):c.910A>G (p.Thr304Ala) SNV
Germline		 Chr4:54703877 Conflicting classifications of pathogenicity Condition: not provided
Piebaldism
Mastocytosis
Hereditary cancer-predisposing syndrome
Gastrointestinal stromal tumor
Ovarian cancer		 Criteria Provided
Conflicting Classifications
 CA215605 rs_202052259

7 SubmittersRCV000034511RCV001147190RCV001148078RCV001018858RCV001081377RCV003153322
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
Piebaldism
Mastocytosis
Condition: not provided
KIT-related disorder		 Criteria Provided
Conflicting Classifications
 CA160350 rs_72550822

11 SubmittersRCV000121314RCV000234206RCV001012201RCV001147271RCV001148177RCV001358169RCV003915210
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 SubmittersRCV000121322RCV000231519RCV001010178RCV001145325RCV001149637RCV001567847RCV003905156
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

8 SubmittersRCV000148560RCV000514124RCV001079840RCV001023936RCV003952706
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		 Criteria Provided
Conflicting Classifications
 CA211569 rs_143388949

6 SubmittersRCV000228971RCV001019462RCV001148079RCV001148080RCV003126544
NM_000222.3(KIT):c.1674G>A (p.Lys558=) SNV
Germline		 Chr4:54727442 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Piebaldism
Mastocytosis
Condition: not provided
KIT-related disorder		 Criteria Provided
Conflicting Classifications
 CA349845 rs_200375589

6 SubmittersRCV000205733RCV001012605RCV001149739RCV001149740RCV003221859RCV003917843
NM_000222.3(KIT):c.2622G>A (p.Pro874=) SNV
Germline		 Chr4:54736746 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Condition: not provided
Piebaldism
Mastocytosis
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA348367 rs_55817813

10 SubmittersRCV000204120RCV001529682RCV001145520RCV001145418RCV001016130
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		 Criteria Provided
Conflicting Classifications
 CA358329 rs_367719489

5 SubmittersRCV000210894RCV000456468RCV001022842RCV001145219RCV001145220RCV003480557
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
Malignant tumor of testis
Acute myeloid leukemia
Mastocytosis
Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Condition: not provided
Piebaldism
Gastrointestinal stromal tumor
KIT-related disorder		 Criteria Provided
Conflicting Classifications
 CA2923187 rs_144933028

11 SubmittersRCV000234428RCV000332028RCV000282556RCV000503289RCV000764541RCV001014023RCV001753684RCV001535624RCV003919917
NM_000222.3(KIT):c.878A>G (p.Asn293Ser) SNV
Germline		 Chr4:54703845 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Piebaldism
Mastocytosis
Hereditary cancer-predisposing syndrome
Condition: not provided
KIT-related disorder		 Criteria Provided
Conflicting Classifications
 CA2923332 rs_137909416

7 SubmittersRCV000231125RCV001147187RCV001147188RCV001018319RCV001355985RCV003967615
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

8 SubmittersRCV000232720RCV001011293RCV001147269RCV001147270RCV001312041RCV001818565
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		 Criteria Provided
Conflicting Classifications
 CA2923528 rs_55792975

5 SubmittersRCV000227916RCV001012312RCV001148178RCV001148179RCV003150989RCV003237783
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		 Criteria Provided
Conflicting Classifications
 CA2923650 rs_766840704

3 SubmittersRCV000232109RCV001014321RCV001147352RCV001147353
NM_000222.3(KIT):c.2349C>T (p.Leu783=) SNV
Germline		 Chr4:54731986 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Piebaldism
Mastocytosis
KIT-related disorder
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2923718 rs_151046591

5 SubmittersRCV000233602RCV001015251RCV001148292RCV001148291RCV003947743RCV003437015
NM_000222.3(KIT):c.2484C>T (p.Asn828=) SNV
Germline		 Chr4:54733192 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Hereditary cancer-predisposing syndrome
Mastocytosis
Piebaldism
not specified
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA2923774 rs_141347955

5 SubmittersRCV000226947RCV001015710RCV001149855RCV001149854RCV003150990RCV003992240
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		 Criteria Provided
Conflicting Classifications
 CA2923821 rs_745967881

3 SubmittersRCV000234366RCV000313788RCV000354568RCV001016271
NM_000222.3(KIT):c.2802+9A>G SNV
Germline		 Chr4:54737289 Conflicting classifications of pathogenicity Mastocytosis
Piebaldism
Gastrointestinal stromal tumor
KIT-related disorder		 Criteria Provided
Conflicting Classifications
 CA2923857 rs_369450271

3 SubmittersRCV000263344RCV000299829RCV000232187RCV003967614
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 SubmittersRCV000244072RCV000295737RCV000385308RCV000330786RCV003237804
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 SubmittersRCV000303585RCV000338742RCV000393784RCV003430890
NM_000222.3(KIT):c.301C>T (p.His101Tyr) SNV
Germline		 Chr4:54695745 Conflicting classifications of pathogenicity Piebaldism
Gastrointestinal stromal tumor
Mastocytosis
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA2923199 rs_781130745

4 SubmittersRCV000308520RCV000343525RCV000408357RCV002436209
NM_000222.3(KIT):c.2000T>G (p.Leu667Arg) SNV
Germline		 Chr4:54729344 Likely pathogenic Piebaldism Criteria Provided
Single Submitter
 rs_1560419312

1 SubmittersRCV000522612
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		 Criteria Provided
Conflicting Classifications
 CA2923882 rs_146374006

5 SubmittersRCV000466972RCV001016778RCV001147478RCV001148395RCV003313074
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 SubmittersRCV000458149RCV001149524RCV001149525RCV002455882
NM_000222.3(KIT):c.2234-3C>T SNV
Germline		 Chr4:54731868 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Piebaldism
Mastocytosis
Hereditary cancer-predisposing syndrome
KIT-related disorder		 Criteria Provided
Conflicting Classifications
 CA2923701 rs_370131461

4 SubmittersRCV000460427RCV001147355RCV001147354RCV002429518RCV003942490
NM_000222.3(KIT):c.978C>T (p.Asn326=) SNV
Germline		 Chr4:54707150 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Piebaldism
Hereditary cancer-predisposing syndrome
Mastocytosis
KIT-related disorder		 Criteria Provided
Conflicting Classifications
 CA2923354 rs_148594615

4 SubmittersRCV000549192RCV001148081RCV001019744RCV001148082RCV003942753
NM_000222.3(KIT):c.2562C>G (p.Ser854=) SNV
Germline		 Chr4:54736575 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Mastocytosis
Piebaldism
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA2923793 rs_750039813

3 SubmittersRCV000633777RCV001149856RCV001149857RCV002458012
NM_000222.3(KIT):c.1185C>A (p.Ser395=) SNV
Germline		 Chr4:54709493 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Piebaldism
Mastocytosis
Hereditary cancer-predisposing syndrome		 Criteria Provided
Conflicting Classifications
 CA439288776 rs_755864184

3 SubmittersRCV000633857RCV001145324RCV001145323RCV002331126
NM_000222.3(KIT):c.1264G>A (p.Val422Met) SNV
Germline		 Chr4:54723616 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Mastocytosis
Hereditary cancer-predisposing syndrome
Piebaldism		 Criteria Provided
Conflicting Classifications
 rs_1560414398

3 SubmittersRCV000699413RCV001145326RCV001010625RCV001145327
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
Cutaneous mastocytosis
Germ cell tumor of testis
Piebaldism
Acute myeloid leukemia
Gastrointestinal stromal tumor		 Criteria Provided
Conflicting Classifications
 rs_1722933723

4 SubmittersRCV001063359RCV002255175RCV002429705RCV003224519
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
 rs_185479436

3 SubmittersRCV001145737RCV001145738RCV001145739RCV001593291
NM_000222.3(KIT):c.*929G>A SNV
Germline		 Chr4:54739486 Conflicting classifications of pathogenicity Gastrointestinal stromal tumor
Piebaldism
Mastocytosis		 Criteria Provided
Conflicting Classifications
 rs_572274912

1 SubmittersRCV001145846RCV001145847RCV001145848
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
 rs_186953545

2 SubmittersRCV001148738RCV001148739RCV001148740RCV003438680
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
 rs_374618962

2 SubmittersRCV001147074RCV001147075RCV001147076
NM_000222.3(KIT):c.590C>T (p.Ser197Leu) SNV
Germline		 Chr4:54698536 Likely pathogenic Piebaldism
Gastrointestinal stromal tumor
Cutaneous mastocytosis		 Criteria Provided
Single Submitter
 rs_2109674601

1 SubmittersRCV002262178
NM_000222.3(KIT):c.2700T>A (p.Tyr900Ter) SNV
Unknown		 Chr4:54737178 Pathogenic Piebaldism Criteria Provided
Single Submitter

1 SubmittersRCV003991087