ClinVar for MedGen (Select 4613) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599002	NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg)	NR2F1, NR2F1-AS1 (C89R)	Single nucleotide variant (missense variant)	Polyphagia +12 more	GUncertain significance
Select item 267942	46;XY;t(1;14)(q42;q13)		Translocation	Exotropia +7 more	GUncertain significance
Select item 267883	46;X;inv(X)(p11.4q24)dn		Inversion	Thrombocytopenia +9 more	GPathogenic
Select item 267823	46;XY;t(6;11)(q23;q21)or(q25;q21)dn		Translocation	Abnormal facial skeleton morphology +10 more	GUncertain significance

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