Total 7 pathogenic variants reported for Maffucci syndrome

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)	SNV Germline	Chr9:21971041	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Condition: not provided Melanoma-pancreatic cancer syndrome Familial melanoma Maffucci syndrome	Criteria Provided Conflicting Classifications	CA299041	rs_199888003	15 SubmittersRCV000160416 RCV000212401 RCV000590444 RCV000988150 RCV001050185 RCV002467577
NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	SNV Germline	Chr3:10149951	Conflicting classifications of pathogenicity	Chuvash polycythemia Von Hippel-Lindau syndrome Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided Chuvash polycythemia Maffucci syndrome	Criteria Provided Conflicting Classifications	CA041992	rs_774380450	7 SubmittersRCV000204248 RCV000568942 RCV000662950 RCV001582712 RCV003468958 RCV002467673
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	SNV Germline/somatic	Chr2:208248389	Pathogenic/Likely pathogenic	Lung adenocarcinoma Breast neoplasm Medulloblastoma Malignant melanoma of skin Transitional cell carcinoma of the bladder Brainstem glioma Adenoid cystic carcinoma Hepatocellular carcinoma Neoplasm of brain Acute myeloid leukemia Astrocytoma Neoplasm of the large intestine Prostate adenocarcinoma Glioblastoma Myelodysplastic syndrome Multiple myeloma Condition: not provided Maffucci syndrome Enchondromatosis Enchondromatosis Glioma susceptibility 1 Maffucci syndrome	Criteria Provided Multiple Submitters No Conflicts	CA16602374	rs_121913499	11 SubmittersRCV000419656 RCV000420988 RCV000428207 RCV000430360 RCV000434107 RCV000438918 RCV000435816 RCV000426141 RCV000418601 RCV000445302 RCV000421691 RCV000436904 RCV000437909 RCV000439965 RCV000441917 RCV000429279 RCV000997650 RCV002291276 RCV002227473 RCV003323531 RCV003458426
NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly)	SNV Germline	Chr12:47983723	Likely pathogenic	Maffucci syndrome	Criteria Provided Single Submitter		rs_2136556852	1 SubmittersRCV002227902
NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)	SNV Germline	Chr14:61720494	Likely pathogenic	Maffucci syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002468421
NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)	SNV Germline	Chr14:61741056	Likely pathogenic	Maffucci syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002468428
NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)	SNV Unknown	Chr14:61738206	Likely pathogenic	Maffucci syndrome	Criteria Provided Single Submitter			1 SubmittersRCV002468430