C5681536[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627528	NM_000789.4(ACE):c.2T>G (p.Met1Arg)	ACE (M1R)	Single nucleotide variant (missense variant +2 more)	Renal tubular dysgenesis of genetic origin	GUncertain significance
Select item 1215324	NM_000789.4(ACE):c.2T>C (p.Met1Thr)	ACE (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2585611	NM_000789.4(ACE):c.3G>T (p.Met1Ile)	ACE (M1I)	Single nucleotide variant (missense variant +2 more)	Renal tubular dysgenesis of genetic origin	GLikely pathogenic
Select item 2585227	NM_000789.4(ACE):c.109G>C (p.Gly37Arg)	ACE (G37R)	Single nucleotide variant (missense variant +1 more)	Renal tubular dysgenesis of genetic origin	GUncertain significance
Select item 2627964	NM_000789.4(ACE):c.973del (p.Val325fs)	ACE (V325fs +1 more)	Deletion (frameshift variant +1 more)	Renal tubular dysgenesis of genetic origin	GLikely pathogenic
Select item 3234989	NM_000789.4(ACE):c.1342+1G>T	ACE	Single nucleotide variant (splice donor variant)	Renal tubular dysgenesis of genetic origin	GLikely pathogenic

ClinVar