"PreventionGenetics, part of Exact Sciences"[submitter] AND "PEPD"[gen - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3044382	NM_000285.4(PEPD):c.*2G>T	PEPD	Single nucleotide variant (3 prime UTR variant)	PEPD-related disorder	GLikely benign
Select item 328783	NM_000285.4(PEPD):c.1470T>C (p.Ser490=)	PEPD	Single nucleotide variant (synonymous variant)	Prolidase deficiency +2 more	GBenign/Likely benign
Select item 787004	NM_000285.4(PEPD):c.1294G>A (p.Ala432Thr)	PEPD (A432T +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 328800	NM_000285.4(PEPD):c.1098C>T (p.His366=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1304027	NM_000285.4(PEPD):c.940C>T (p.Arg314Cys)	PEPD (R250C +2 more)	Single nucleotide variant (missense variant)	PEPD-related disorder +1 more	GUncertain significance
Select item 1306763	NM_000285.4(PEPD):c.901G>T (p.Asp301Tyr)	PEPD (D237Y +2 more)	Single nucleotide variant (missense variant)	PEPD-related disorder +1 more	GUncertain significance
Select item 781447	NM_000285.4(PEPD):c.863T>C (p.Ile288Thr)	PEPD (I247T +2 more)	Single nucleotide variant (missense variant)	Prolidase deficiency +2 more	GBenign
Select item 2630874	NM_000285.4(PEPD):c.818+2T>G	PEPD	Single nucleotide variant (splice donor variant)	PEPD-related disorder +1 more	GLikely pathogenic
Select item 733546	NM_000285.4(PEPD):c.810G>A (p.Gly270=)	PEPD	Single nucleotide variant (synonymous variant)	PEPD-related disorder +1 more	GBenign/Likely benign
Select item 1548540	NM_000285.4(PEPD):c.774C>T (p.His258=)	PEPD	Single nucleotide variant (synonymous variant)	PEPD-related disorder +1 more	GBenign/Likely benign
Select item 2047168	NM_000285.4(PEPD):c.740+5G>A	PEPD	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 791721	NM_000285.4(PEPD):c.509A>T (p.Glu170Val)	PEPD (E106V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 328815	NM_000285.4(PEPD):c.492C>T (p.Asp164=)	PEPD	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 791722	NM_000285.4(PEPD):c.442C>T (p.Arg148Cys)	PEPD (R84C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign