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	Von Hippel-Lindau syndrome Chuvash polycythemia Hereditary cancer-predisposing syndrome Von Hippel-Lindau syndrome Condition: not provided Maffucci syndrome Chuvash polycythemia	Criteria Provided Conflicting Classifications	CA041992	rs_774380450	7 SubmittersRCV000204248 RCV000568942 RCV000662950 RCV001582712 RCV002467673 RCV003468958
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	SNV Germline/somatic	Chr2:208248389	Pathogenic/Likely pathogenic	Acute myeloid leukemia Condition: not provided Maffucci syndrome Enchondromatosis Enchondromatosis Glioma susceptibility 1 Maffucci syndrome Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA16602374	rs_121913499	11 SubmittersRCV000445302 RCV000997650 RCV002291276 RCV002227473 RCV003323531 RCV003458426 RCV004668921
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