"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PREPL"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 804198	NM_000341.4(SLC3A1):c.1640C>T (p.Ser547Leu)	PREPL, SLC3A1 (S547L)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GConflicting classifications of pathogenicity
Select item 1687510	NM_000341.4(SLC3A1):c.1657C>G (p.Gln553Glu)	PREPL, SLC3A1 (Q553E)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GUncertain significance
Select item 1071553	NM_000341.4(SLC3A1):c.1699_1700del (p.Arg567fs)	PREPL, SLC3A1 (R567fs)	Deletion (frameshift variant +1 more)	Cystinuria	GPathogenic
Select item 791071	NM_000341.4(SLC3A1):c.1809A>C (p.Thr603=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Cystinuria +1 more	GLikely benign
Select item 897602	NM_000341.4(SLC3A1):c.1826A>G (p.Asn609Ser)	PREPL, SLC3A1 (N609S)	Single nucleotide variant (missense variant +1 more)	Cystinuria	GConflicting classifications of pathogenicity
Select item 1524575	NM_000341.4(SLC3A1):c.1870A>G (p.Thr624Ala)	PREPL, SLC3A1 (T624A)	Single nucleotide variant (missense variant +1 more)	SLC3A1-related disorder +1 more	GUncertain significance
Select item 336215	NM_000341.4(SLC3A1):c.1973G>A (p.Arg658His)	SLC3A1, PREPL (R658H)	Single nucleotide variant (missense variant +1 more)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 642723	NM_000341.4(SLC3A1):c.2020dup (p.Tyr674fs)	PREPL, SLC3A1 (Y674fs)	Duplication (frameshift variant +1 more)	Cystinuria	GPathogenic/Likely pathogenic
Select item 569764	NM_001171613.2(PREPL):c.888+1G>A	PREPL	Single nucleotide variant (splice donor variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GConflicting classifications of pathogenicity