Total 19 pathogenic variants reported for Pilomatrixoma 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) SNV
Germline		 Chr1:45331556 Pathogenic/Likely pathogenic Endometrial cancer
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Carcinoma of colon
Familial adenomatous polyposis 2
Neoplasm of stomach
Small intestine carcinoid
Familial adenomatous polyposis 2
Neoplasm of stomach
Pilomatrixoma
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
Ovarian carcinoma
Colon cancer
Breast carcinoma
Familial colorectal cancer
Diffuse midline glioma, H3 K27-altered
Inherited polyposis and early onset colorectal cancer - germline testing
MUTYH-related disorder
Familial adenomatous polyposis 2
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA011561 rs_36053993

73 SubmittersRCV000005615RCV000005614RCV000115748RCV000079501RCV000121598RCV000144637RCV000477907RCV000493920RCV000515320RCV000501239RCV001262769RCV001580144RCV001574076RCV002051775RCV004785246RCV004808548RCV004528084RCV005016243
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) SNV
Somatic		 Chr3:41224610 Pathogenic Carcinoma of colon
Pilomatrixoma		 No Assertion Criteria Provided
 CA127263 rs_121913400

1 SubmittersRCV000019138RCV000019139
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) SNV
Somatic		 Chr3:41224607 Pathogenic/Likely pathogenic Pilomatrixoma
Condition: not provided		 No Assertion Criteria Provided
 CA127265 rs_121913396

2 SubmittersRCV000019140RCV000087199
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) SNV
Somatic		 Chr3:41224622 Pathogenic/Likely pathogenic Ovarian neoplasm
Pilomatrixoma
Condition: not provided		 No Assertion Criteria Provided
 CA127267 rs_121913403

2 SubmittersRCV000019141RCV000030945RCV000087195
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) SNV
Somatic		 Chr3:41224606 Pathogenic; other Pilomatrixoma
Neoplasm
Medulloblastoma
Hepatoblastoma		 No Assertion Criteria Provided
 CA127271 rs_28931588

3 SubmittersRCV000128842RCV004668737RCV000437074RCV000019144
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) SNV
Somatic		 Chr3:41224610 Pathogenic; other Pilomatrixoma
Medulloblastoma
Adrenal cortex neoplasm
Neoplasm
Malignant tumor of urinary bladder		 No Assertion Criteria Provided
 CA127275 rs_121913400

4 SubmittersRCV000019147RCV000019148RCV004808527RCV005229819RCV003332083
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) SNV
Somatic		 Chr3:41224613 Pathogenic; other Medulloblastoma
Pilomatrixoma		 No Assertion Criteria Provided
 CA127277 rs_28931589

2 SubmittersRCV000443977RCV000019149
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) SNV
Somatic		 Chr3:41224622 Pathogenic Pilomatrixoma No Assertion Criteria Provided
 CA127279 rs_121913403

1 SubmittersRCV000019151
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) SNV
Somatic		 Chr3:41224634 Likely pathogenic Desmoid disease, hereditary
Pilomatrixoma		 Criteria Provided
Single Submitter
 CA127281 rs_121913413

2 SubmittersRCV004562216RCV000019152
NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg) SNV
Germline		 Chr1:45330541 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Condition: not provided
Familial adenomatous polyposis 2
Pilomatrixoma
Familial adenomatous polyposis 2
Neoplasm of stomach		 Criteria Provided
Conflicting Classifications
 CA012941 rs_587780085

10 SubmittersRCV000115760RCV000212721RCV000640383RCV000765173
NM_001048174.2(MUTYH):c.13C>T (p.Arg5Ter) SNV
Germline		 Chr1:45334493 Pathogenic/Likely pathogenic Condition: not provided
Carcinoma of colon
Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Pilomatrixoma
Familial adenomatous polyposis 2
Neoplasm of stomach
Gastric cancer
Familial adenomatous polyposis 2
Gastric cancer		 Criteria Provided
Multiple Submitters
No Conflicts
 CA013854 rs_587780088

12 SubmittersRCV000115767RCV000144639RCV000206117RCV000447652RCV000763343RCV005394393RCV003162540
NM_001048174.2(MUTYH):c.488G>A (p.Arg163Gln) SNV
Germline		 Chr1:45332767 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Pilomatrixoma
Neoplasm of stomach
Familial adenomatous polyposis 2
not specified		 Criteria Provided
Conflicting Classifications
 CA013903 rs_369677603

13 SubmittersRCV000115768RCV000168022RCV000212702RCV000765176RCV001192928
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) SNV
Germline		 Chr1:45332035 Conflicting classifications of pathogenicity not specified
Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Pilomatrixoma
Neoplasm of stomach
Familial adenomatous polyposis 2		 Criteria Provided
Conflicting Classifications
 CA014772 rs_147718169

18 SubmittersRCV000121592RCV000129011RCV000205715RCV000656910RCV000515294
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) SNV
Germline		 Chr1:45331488 Conflicting classifications of pathogenicity Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Pilomatrixoma
Neoplasm of stomach
Familial adenomatous polyposis 2
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA012424 rs_587780744

13 SubmittersRCV000123142RCV000130485RCV000515285RCV000590647RCV001175350
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) SNV
Germline		 Chr1:45332443 Likely pathogenic Familial adenomatous polyposis 2
Hereditary cancer-predisposing syndrome
Condition: not provided
Pilomatrixoma
Gastric cancer
Familial adenomatous polyposis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA014236 rs_587780749

16 SubmittersRCV000123154RCV000131615RCV000212707RCV001292933RCV005025203
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) SNV
Germline		 Chr1:45332445 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Condition: not provided
Pilomatrixoma
Neoplasm of stomach
Familial adenomatous polyposis 2
Breast carcinoma
Carcinoma of colon
Diffuse midline glioma, H3 K27-altered
MUTYH-related disorder
Gastric cancer
Familial adenomatous polyposis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA014226 rs_140342925

28 SubmittersRCV000129105RCV000196778RCV000212706RCV000515198RCV001262379RCV001353906RCV003313780RCV004532545RCV005016430
NM_001048174.2(MUTYH):c.263G>A (p.Arg88Gln) SNV
Germline		 Chr1:45333414 Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Pilomatrixoma
Familial adenomatous polyposis 2
Neoplasm of stomach
Condition: not provided
not specified		 Criteria Provided
Conflicting Classifications
 CA013393 rs_587782683

8 SubmittersRCV000132110RCV000197990RCV000515197RCV000479477RCV000780501
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys) SNV
Germline		 Chr1:45332795 Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Ovarian cancer
Condition: not provided
Pilomatrixoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA013785 rs_747993448

18 SubmittersRCV000166998RCV000229525RCV003153454RCV000236750RCV002272151
NM_001048174.2(MUTYH):c.305-1G>C SNV
Germline		 Chr1:45333171 Pathogenic Hereditary cancer-predisposing syndrome
Familial adenomatous polyposis 2
Carcinoma of colon
Familial adenomatous polyposis 2
Pilomatrixoma
Neoplasm of stomach
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10577740 rs_372267274

14 SubmittersRCV000221410RCV000230931RCV001353991RCV000763342RCV000478994