ClinVar for MedGen (Select 862944) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237408	NM_001424.6(EMP2):c.78+1G>C	EMP2	Single nucleotide variant (splice donor variant)	Nephrotic syndrome, type 10	GLikely pathogenic
Select item 2180054	NM_001424.6(EMP2):c.427T>C (p.Tyr143His)	EMP2 (Y143H)	Single nucleotide variant (missense variant)	Nephrotic syndrome, type 10 +1 more	GUncertain significance
Select item 2038102	NM_001424.6(EMP2):c.188C>T (p.Ala63Val)	EMP2 (A63V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1312429	NM_001424.6(EMP2):c.497G>A (p.Arg166His)	EMP2 (R166H)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 258093	NM_001424.6(EMP2):c.170-14C>T	EMP2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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
Select item 139531	NM_001424.6(EMP2):c.184C>T (p.Gln62Ter)	EMP2 (Q62*)	Single nucleotide variant (nonsense)	Nephrotic syndrome, type 10	GPathogenic

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