ClinVar for MedGen (Select 2065) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570672	NM_022113.6(KIF13A):c.3364A>G (p.Lys1122Glu)	KIF13A (K1122E +1 more)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
Select item 827775	NM_003070.5(SMARCA2):c.2156T>C (p.Leu719Pro)	SMARCA2 (L719P)	Single nucleotide variant (missense variant)	Chiari malformation	GUncertain significance
Select item 267862	46;XY;t(1;3)(p22;q21)dn		Translocation	Corpus callosum, agenesis of +24 more	GUncertain significance

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