ClinVar for MedGen (Select 854385) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 931804	NM_002381.5(MATN3):c.59TGC[3] (p.Leu23del)	MATN3 (L23del)	Microsatellite (inframe_deletion)	Osteoarthritis susceptibility 2	GLikely pathogenic
Select item 930909	NM_002381.5(MATN3):c.868G>A (p.Glu290Lys)	MATN3, WDR35-DT (E290K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7542	NM_002381.5(MATN3):c.908C>T (p.Thr303Met)	MATN3, WDR35-DT (T303M)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 5 +3 more	GBenign

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