ClinVar for MedGen (Select 167090) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1031240	NM_016553.5(NUP62):c.700A>G (p.Thr234Ala)	NUP62, IL4I1 (T234A)	Single nucleotide variant (missense variant +1 more)	Infantile bilateral striatal necrosis +1 more	GUncertain significance
Select item 800771	NM_016553.5(NUP62):c.548C>T (p.Thr183Met)	IL4I1, NUP62 (T183M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 129849	NM_016553.5(NUP62):c.848G>C (p.Ser283Thr)	IL4I1, NUP62 (S283T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 129848	NM_016553.5(NUP62):c.648C>T (p.Ser216=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	Infantile bilateral striatal necrosis +2 more	GBenign
Select item 129846	NM_016553.5(NUP62):c.1323T>C (p.Asp441=)	IL4I1, NUP62	Single nucleotide variant (synonymous variant +1 more)	Infantile bilateral striatal necrosis +2 more	GBenign
Select item 4752	NM_016553.5(NUP62):c.1172A>C (p.Gln391Pro)	IL4I1, NUP62 (Q391P)	Single nucleotide variant (missense variant +1 more)	Infantile bilateral striatal necrosis	GPathogenic

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