"OMIM"[submitter] AND "EMP2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 139531	NM_001424.6(EMP2):c.184C>T (p.Gln62Ter)	EMP2 (Q62*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 10	GPathogenic
Select item 139533	NM_001424.6(EMP2):c.28G>A (p.Ala10Thr)	EMP2 (A10T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 139532	NM_001424.6(EMP2):c.21C>G (p.Phe7Leu)	EMP2 (F7L)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 10	GPathogenic

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