ClinVar for MedGen (Select 7437) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3238635	NM_005896.4(IDH1):c.943C>T (p.His315Tyr)	IDH1 (H315Y)	Single nucleotide variant (missense variant)	Maffucci syndrome	GUncertain significance
Select item 1803805	NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)	HIF1A, HIF1A-AS3 (E457K +1 more)	Single nucleotide variant (missense variant)	Maffucci syndrome	GLikely pathogenic
Select item 1803803	NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)	HIF1A, HIF1A-AS3 (A654V +1 more)	Single nucleotide variant (missense variant)	Maffucci syndrome	GLikely pathogenic
Select item 1803801	NM_000077.5(CDKN2A):c.50C>G (p.Ala17Gly)	CDKN2A (A17G)	Single nucleotide variant (missense variant +1 more)	Maffucci syndrome	GUncertain significance
Select item 1803799	NM_015061.6(KDM4C):c.1112G>A (p.Arg371Gln)	KDM4C (R190Q +2 more)	Single nucleotide variant (missense variant +2 more)	KDM4C-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1803796	NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)	HIF1A, HIF1A-AS3 (V50L +1 more)	Single nucleotide variant (missense variant)	Maffucci syndrome	GLikely pathogenic
Select item 1679886	NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly)	COL2A1 (E583G +1 more)	Single nucleotide variant (missense variant)	Maffucci syndrome	GLikely pathogenic
Select item 375891	NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	IDH1 (R132C)	Single nucleotide variant (missense variant)	Maffucci syndrome +4 more	GPathogenic/Likely pathogenic
Select item 220627	NM_000551.4(VHL):c.628C>T (p.Arg210Trp)	LOC107303340, VHL (R210W +1 more)	Single nucleotide variant (missense variant +1 more)	Maffucci syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135826	NM_000077.5(CDKN2A):c.318G>A (p.Val106=)	CDKN2A (A121T)	Single nucleotide variant (synonymous variant +2 more)	Maffucci syndrome +5 more	GConflicting classifications of pathogenicity
Select item 93330	NM_000551.4(VHL):c.74C>T (p.Pro25Leu)	VHL (P25L)	Single nucleotide variant (missense variant)	Chuvash polycythemia +4 more	GBenign/Likely benign