Total 18 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 Neoplasm of stomach Familial adenomatous polyposis 2 Small intestine carcinoid Neoplasm of stomach Pilomatrixoma Familial adenomatous polyposis 2 Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas Ovarian carcinoma Colon cancer Breast carcinoma Familial colorectal cancer MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA011561	rs_36053993	66 SubmittersRCV000005615 RCV000005614 RCV000115748 RCV000079501 RCV000121598 RCV000144637 RCV000477907 RCV000493920 RCV000515320 RCV000501239 RCV001262769 RCV001580144 RCV001574076 RCV002051775 RCV004528084
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)	SNV Somatic	Chr3:41224610	Pathogenic/Likely pathogenic	Carcinoma of colon Pilomatrixoma Carcinoma of esophagus Medulloblastoma Hepatocellular carcinoma Endometrium neoplasm Malignant neoplasm of body of uterus Prostate adenocarcinoma Gastric adenocarcinoma Malignant melanoma of skin Pancreatic adenocarcinoma Transitional cell carcinoma of the bladder Neoplasm of the large intestine Lung adenocarcinoma	No Assertion Criteria Provided	CA127263	rs_121913400	2 SubmittersRCV000019138 RCV000019139 RCV000423917 RCV000435233 RCV000426112 RCV000443472 RCV000435972 RCV000418289 RCV000430278 RCV000434171 RCV000424968 RCV000437025 RCV000443834 RCV000444481
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly)	SNV Somatic	Chr3:41224607	Pathogenic/Likely pathogenic	Pilomatrixoma Condition: not provided Medulloblastoma Malignant neoplasm of body of uterus Malignant melanoma of skin Prostate adenocarcinoma Neoplasm of uterine cervix Transitional cell carcinoma of the bladder Melanoma Hepatocellular carcinoma Gastric adenocarcinoma	No Assertion Criteria Provided	CA127265	rs_121913396	3 SubmittersRCV000019140 RCV000087199 RCV000427896 RCV000435333 RCV000417687 RCV000433199 RCV000427454 RCV000425010 RCV000443883 RCV000437703 RCV000443060
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys)	SNV Somatic	Chr3:41224622	Pathogenic/Likely pathogenic	Neoplasm of ovary Pilomatrixoma Condition: not provided Malignant neoplasm of body of uterus Lung adenocarcinoma Prostate adenocarcinoma Transitional cell carcinoma of the bladder Hepatocellular carcinoma Carcinoma of esophagus Medulloblastoma Gastric adenocarcinoma Neoplasm of uterine cervix	No Assertion Criteria Provided	CA127267	rs_121913403	3 SubmittersRCV000019141 RCV000030945 RCV000087195 RCV000421574 RCV000432924 RCV000441696 RCV000445258 RCV000423597 RCV000422240 RCV000431366 RCV000438791 RCV000430788
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr)	SNV Somatic	Chr3:41224606	Pathogenic/Likely pathogenic; other	Hepatoblastoma Pilomatrixoma Neoplasm of uterine cervix Gastric adenocarcinoma Malignant neoplasm of body of uterus Craniopharyngioma Malignant melanoma of skin Hepatocellular carcinoma Transitional cell carcinoma of the bladder Medulloblastoma Prostate adenocarcinoma	No Assertion Criteria Provided	CA127271	rs_28931588	3 SubmittersRCV000019144 RCV000128842 RCV000420526 RCV000418154 RCV000419388 RCV000426162 RCV000426839 RCV000430774 RCV000438170 RCV000437074 RCV000441036
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)	SNV Somatic	Chr3:41224610	Pathogenic/Likely pathogenic; other	Pilomatrixoma Medulloblastoma Neoplasm of the large intestine Hepatocellular carcinoma Gastric adenocarcinoma Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus ADRENAL CORTICAL NEOPLASM Prostate adenocarcinoma Malignant melanoma of skin Pancreatic adenocarcinoma Lung adenocarcinoma Carcinoma of esophagus Malignant tumor of urinary bladder	No Assertion Criteria Provided	CA127275	rs_121913400	4 SubmittersRCV000019147 RCV000019148 RCV000418596 RCV000438845 RCV000439964 RCV000428161 RCV000420986 RCV000505658 RCV000443180 RCV000421635 RCV000423964 RCV000434049 RCV000437352 RCV003332083
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu)	SNV Somatic	Chr3:41224613	Pathogenic/Likely pathogenic; other	Pilomatrixoma Medulloblastoma Squamous cell carcinoma of the head and neck Adrenal cortex carcinoma Malignant neoplasm of body of uterus Malignant melanoma of skin Hepatocellular carcinoma Lung adenocarcinoma Gastric adenocarcinoma Neoplasm of ovary	No Assertion Criteria Provided	CA127277	rs_28931589	3 SubmittersRCV000019149 RCV000443977 RCV000422250 RCV000432939 RCV000433938 RCV000434538 RCV000443851 RCV000439589 RCV000423249 RCV000426491
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe)	SNV Somatic	Chr3:41224622	Pathogenic/Likely pathogenic	Pilomatrixoma Neoplasm of uterine cervix Prostate adenocarcinoma Gastric adenocarcinoma Hepatocellular carcinoma Neoplasm of ovary Transitional cell carcinoma of the bladder Malignant neoplasm of body of uterus Medulloblastoma Melanoma Carcinoma of esophagus Lung adenocarcinoma	No Assertion Criteria Provided	CA127279	rs_121913403	2 SubmittersRCV000019151 RCV000427490 RCV000433883 RCV000444520 RCV000426489 RCV000420061 RCV000437726 RCV000425340 RCV000428583 RCV000442576 RCV000436738 RCV000445320
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile)	SNV Somatic	Chr3:41224634	Likely pathogenic	Pilomatrixoma Prostate adenocarcinoma Pancreatic adenocarcinoma Malignant neoplasm of body of uterus Neoplasm of the large intestine Lung adenocarcinoma Hepatocellular carcinoma Adrenal cortex carcinoma Malignant melanoma of skin Desmoid disease, hereditary	Criteria Provided Single Submitter	CA127281	rs_121913413	3 SubmittersRCV000019152 RCV000422057 RCV000427656 RCV000426659 RCV000432291 RCV000436836 RCV000442963 RCV000442251 RCV000443038 RCV004562216
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 Familial adenomatous polyposis 2 Pilomatrixoma Neoplasm of stomach Gastric cancer	Criteria Provided Multiple Submitters No Conflicts	CA013854	rs_587780088	11 SubmittersRCV000115767 RCV000144639 RCV000206117 RCV000447652 RCV000763343 RCV003162540
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 Familial adenomatous polyposis 2 Neoplasm of stomach not specified	Criteria Provided Conflicting Classifications	CA013903	rs_369677603	12 SubmittersRCV000115768 RCV000168022 RCV000212702 RCV000765176 RCV001192928
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 Familial adenomatous polyposis 2 Pilomatrixoma Neoplasm of stomach	Criteria Provided Conflicting Classifications	CA014772	rs_147718169	18 SubmittersRCV000121592 RCV000129011 RCV000205715 RCV000656910 RCV000515294
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 Neoplasm of stomach Pilomatrixoma Familial adenomatous polyposis 2 Condition: not provided not specified	Criteria Provided Conflicting Classifications	CA012424	rs_587780744	11 SubmittersRCV000123142 RCV000130485 RCV000515285 RCV000590647 RCV001175350
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)	SNV Germline	Chr1:45332443	Conflicting classifications of pathogenicity	Familial adenomatous polyposis 2 Hereditary cancer-predisposing syndrome Condition: not provided Pilomatrixoma	Criteria Provided Conflicting Classifications	CA014236	rs_587780749	13 SubmittersRCV000123154 RCV000131615 RCV000212707 RCV001292933
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 Neoplasm of stomach Familial adenomatous polyposis 2 Pilomatrixoma Breast carcinoma Carcinoma of colon Diffuse midline glioma, H3 K27-altered MUTYH-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA014226	rs_140342925	27 SubmittersRCV000129105 RCV000196778 RCV000212706 RCV000515198 RCV001262379 RCV001353906 RCV003313780 RCV004532545
NM_001048174.2(MUTYH):c.460C>T (p.Arg154Cys)	SNV Germline	Chr1:45332795	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Condition: not provided Ovarian cancer Pilomatrixoma	Criteria Provided Conflicting Classifications	CA013785	rs_747993448	18 SubmittersRCV000166998 RCV000229525 RCV000236750 RCV003153454 RCV002272151
NM_001048174.2(MUTYH):c.305-1G>C	SNV Germline	Chr1:45333171	Pathogenic	Hereditary cancer-predisposing syndrome Familial adenomatous polyposis 2 Familial adenomatous polyposis 2 Pilomatrixoma Neoplasm of stomach Condition: not provided Carcinoma of colon	Criteria Provided Multiple Submitters No Conflicts	CA10577740	rs_372267274	14 SubmittersRCV000221410 RCV000230931 RCV000763342 RCV000478994 RCV001353991
NM_001904.4(CTNNB1):c.100G>A (p.Gly34Arg)	SNV Somatic	Chr3:41224612	Pathogenic/Likely pathogenic	Craniopharyngioma Pilomatrixoma Malignant tumor of urinary bladder	No Assertion Criteria Provided	CA16602685	rs_121913399	2 SubmittersRCV000426895 RCV000444074 RCV003332169