ClinVar for MedGen (Select 1741713) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627385	NM_006554.5(MTX2):c.135+2T>C	MTX2	Single nucleotide variant (splice donor variant)	Mandibuloacral dysplasia progeroid syndrome	GLikely pathogenic
Select item 827676	NM_006554.5(MTX2):c.295_296del (p.Ser98_Leu99insTer)	MTX2	Microsatellite (nonsense)	Hypertensive disorder +10 more	GPathogenic
Select item 805940	NM_006554.5(MTX2):c.603del (p.Tyr202fs)	MTX2 (Y179fs +2 more)	Deletion (frameshift variant +1 more)	Progeroid mandibuloacral dysplasia +1 more	GPathogenic
Select item 805939	NM_006554.5(MTX2):c.544-1G>C	MTX2	Single nucleotide variant (splice acceptor variant +1 more)	Mandibuloacral dysplasia progeroid syndrome +1 more	GPathogenic
Select item 805938	NM_006554.5(MTX2):c.208+3_208+6del	MTX2	Deletion (splice donor variant)	Mandibuloacral dysplasia progeroid syndrome +1 more	GPathogenic
Select item 805937	NM_006554.5(MTX2):c.2T>A (p.Met1Lys)	MTX2 (M1K)	Single nucleotide variant (5 prime UTR variant +2 more)	Mandibuloacral dysplasia progeroid syndrome +1 more	GPathogenic

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