Total 8 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	16 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 Maffucci syndrome Chuvash polycythemia Chuvash polycythemia Nonpapillary renal cell carcinoma Pheochromocytoma Von Hippel-Lindau syndrome not specified	Criteria Provided Conflicting Classifications	CA041992	rs_774380450	11 SubmittersRCV000204248 RCV000568942 RCV000662950 RCV001582712 RCV002467673 RCV003468958 RCV005031778 RCV005230083
NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	SNV Germline/somatic	Chr2:208248389	Pathogenic/Likely pathogenic	Acute myeloid leukemia Condition: not provided Enchondromatosis Enchondromatosis Maffucci syndrome Glioma susceptibility 1 Maffucci syndrome Neoplasm Juvenile type testicular granulosa cell tumor Medulloblastoma	Criteria Provided Multiple Submitters No Conflicts	CA16602374	rs_121913499	13 SubmittersRCV000445302 RCV000997650 RCV002227473 RCV002291276 RCV003323531 RCV003458426 RCV004668921 RCV006253951 RCV006253950
NM_002168.4(IDH2):c.514A>G (p.Arg172Gly)	SNV Somatic	Chr15:90088607	Likely pathogenic	Neoplasm Maffucci syndrome	Criteria Provided Single Submitter	CA16602874	rs_1057519906	2 SubmittersRCV004668945 RCV005251124
NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly)	SNV Germline	Chr12:47983723	Likely pathogenic	Maffucci syndrome	Criteria Provided Single Submitter	CA384548546	rs_2136556852	1 SubmittersRCV002227902
NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)	SNV Germline	Chr14:61720494	Conflicting classifications of pathogenicity	Maffucci syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA7215638	rs_61755705	2 SubmittersRCV002468421 RCV005232988
NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)	SNV Germline	Chr14:61741056	Likely pathogenic	Maffucci syndrome	Criteria Provided Single Submitter	CA389929044	rs_2044704486	1 SubmittersRCV002468428
NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)	SNV Unknown	Chr14:61738206	Likely pathogenic	Maffucci syndrome	Criteria Provided Single Submitter	CA389927270	rs_2503149952	1 SubmittersRCV002468430