ClinVar for MedGen (Select 57535) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977143	NM_003482.4(KMT2D):c.10624C>G (p.Leu3542Val)	KMT2D (L3542V)	Single nucleotide variant (missense variant)	Amblyopia +6 more	GConflicting classifications of pathogenicity
Select item 417914	NM_017514.5(PLXNA3):c.214G>A (p.Glu72Lys)	PLXNA3 (E72K)	Single nucleotide variant (missense variant)	Autism +1 more	GUncertain significance
Select item 267946	46;XX;inv(4)(q34.2q35.2).ish		Inversion	Microtia +1 more	GUncertain significance
Select item 267936	46;XY;t(12;14)(q15;q13)mat		Translocation	Attention deficit hyperactivity disorder +14 more	GUncertain significance
Select item 267905	46;XY;t(4;14;4;1)(q28.2;q13.1;28.2q21;p32.3)dn		Translocation	Posteriorly placed tongue +17 more	GLikely pathogenic
Select item 267857	46;XX;inv(5)(q14q35)dn		Inversion	Global developmental delay +14 more	GPathogenic
Select item 267846	46;X;t(X;17)(q22;p13.3)dn		Translocation	Round face +8 more	GPathogenic
Select item 163878	NM_170707.4(LMNA):c.1634G>A (p.Arg545His)	LMNA (R545H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal semi-dominant severe lipodystrophic laminopathy +24 more	GConflicting classifications of pathogenicity

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