ClinVar for MedGen (Select 215296) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570664	NM_172230.3(SYVN1):c.68A>G (p.Tyr23Cys)	SYVN1 (Y23C)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 2570663	NM_172230.3(SYVN1):c.38C>T (p.Ala13Val)	SYVN1 (A13V)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 267927	46;XY;t(4;14)(p14;q11.2)dn		Translocation	Short philtrum +28 more	GUncertain significance
Select item 267884	46;XY;t(3;5)(q23;q13)dn		Translocation	Tracheomalacia +3 more	GLikely pathogenic

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