Related gene-specific medical variations for Gene (Select 5184) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242636	NC_000019.9:g.(?_33999648)_(34001938_?)del	PEPD	Deletion	not provided	GLikely pathogenic
Select item 3242634	NC_000019.9:g.(?_33953881)_(33954988_?)del	PEPD	Deletion	not provided	GPathogenic
Select item 3242633	NC_000019.9:g.(?_33892607)_(33904569_?)del	PEPD	Deletion	not provided	GPathogenic
Select item 3242632	NC_000019.9:g.(?_33991824)_(33991927_?)del	PEPD	Deletion	not provided	GPathogenic
Select item 3242631	NC_000019.9:g.(?_33882181)_(33882405_?)del	PEPD	Deletion	not provided	GPathogenic
Select item 808508	NM_000285.4(PEPD):c.1345-1G>A	PEPD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 686349	GRCh37/hg19 19q13.11(chr19:33963521-33975799)x1	PEPD	Copy number loss	not provided	GPathogenic
Select item 522945	NM_000285.4(PEPD):c.393+4G>A	PEPD	Single nucleotide variant (intron variant)	Prolidase deficiency	GUncertain significance

ClinVar