ClinVar (all) for Orgtrack (Select 507129) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978423	NM_016343.4(CENPF):c.997_1012del (p.Glu333fs)	CENPF (E333fs)	Deletion (frameshift variant)	Cystinuria	GLikely pathogenic
Select item 978422	NM_014270.5(SLC7A9):c.460_471del (p.Leu154_Ala157del)	SLC7A9	Deletion (inframe_deletion)	Cystinuria	GUncertain significance
Select item 978421	NM_000341.4(SLC3A1):c.1230C>A (p.Asn410Lys)	SLC3A1 (N410K)	Single nucleotide variant (missense variant)	Cystinuria	GLikely pathogenic
Select item 978420	NM_000341.4(SLC3A1):c.1617+1097T>A	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GUncertain significance
Select item 690279	NM_016343.4(CENPF):c.1195-2A>G	CENPF	Single nucleotide variant (splice acceptor variant)	Stromme syndrome	GLikely pathogenic
Select item 548674	NM_000341.4(SLC3A1):c.592del (p.Ala198fs)	SLC3A1 (A198fs)	Deletion (frameshift variant)	Cystinuria	GPathogenic/Likely pathogenic

ClinVar