ClinVar for MedGen (Select 140848) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 917488	NM_181336.4(LEMD2):c.1436C>T (p.Ser479Phe)	LEMD2 (S177F +2 more)	Single nucleotide variant (missense variant)	Multiple unerupted teeth +18 more	GLikely pathogenic
Select item 523536	NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu)	MAP2K2 (K172E)	Single nucleotide variant (missense variant)	MAP2K2-related disorder +10 more	GUncertain significance
Select item 431697	NM_006311.4(NCOR1):c.97C>T (p.Arg33Cys)	NCOR1 (R33C)	Single nucleotide variant (missense variant)	Hyperlaxity +2 more	GLikely pathogenic

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