ClinVar for MedGen (Select 341396) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 268005	46;XX;t(8;14)(q21.2;q12)dn		Translocation	Hypoplasia of the frontal lobes +11 more	GLikely pathogenic
Select item 267956	46;XY;t(3;18)(q13.3;q21.3)dn		Translocation	Abnormal facial shape +3 more	GPathogenic
Select item 267828	46;XY;t(7;19)(q32;q13.1)dn		Translocation	Ear malformation +13 more	GPathogenic
Select item 224144	NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)	LOC129935026, TBR1 (T532fs)	Microsatellite (frameshift variant)	Seizure +12 more	GPathogenic/Likely pathogenic

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