"Revvity Omics, Revvity"[submitter] AND "SLC3A1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2436031	NM_000341.4(SLC3A1):c.533A>C (p.Glu178Ala)	SLC3A1 (E178A)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 548674	NM_000341.4(SLC3A1):c.592del (p.Ala198fs)	SLC3A1 (A198fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 895658	NM_000341.4(SLC3A1):c.680G>A (p.Arg227Gln)	SLC3A1 (R227Q)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 336195	NM_000341.4(SLC3A1):c.808C>T (p.Arg270Ter)	SLC3A1 (R270*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2433461	NM_000341.4(SLC3A1):c.891+4A>G	SLC3A1	Single nucleotide variant (intron variant)	Cystinuria	GLikely pathogenic
Select item 1325092	NM_000341.4(SLC3A1):c.1012-9_1012del	SLC3A1	Deletion (splice acceptor variant)	Cystinuria	GLikely pathogenic
Select item 2436032	NM_000341.4(SLC3A1):c.1219T>G (p.Phe407Val)	SLC3A1 (F407V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 804196	NM_000341.4(SLC3A1):c.1332+2T>A	SLC3A1	Single nucleotide variant (splice donor variant)	Cystinuria	GPathogenic
Select item 225474	NM_000341.4(SLC3A1):c.1334T>C (p.Ile445Thr)	SLC3A1 (I445T)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2436033	NM_000341.4(SLC3A1):c.1390G>A (p.Val464Met)	SLC3A1 (V464M)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 18115	NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)	SLC3A1 (M467T)	Single nucleotide variant (missense variant)	Cystinuria +3 more	GPathogenic/Likely pathogenic
Select item 1500255	NM_000341.4(SLC3A1):c.1403T>G (p.Leu468Arg)	SLC3A1 (L468R)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 1026394	NM_000341.4(SLC3A1):c.1823ATA[1] (p.Asn609del)	PREPL, SLC3A1 (N609del)	Microsatellite (inframe_deletion +1 more)	Cystinuria	GUncertain significance