"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "SLC3A1"[ge - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 526034	NM_000341.4(SLC3A1):c.231T>A (p.Ser77=)	SLC3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 709359	NM_000341.4(SLC3A1):c.566C>T (p.Thr189Met)	SLC3A1 (T189M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 791683	NM_000341.4(SLC3A1):c.1035G>A (p.Glu345=)	SLC3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 785747	NM_000341.4(SLC3A1):c.1398C>T (p.Asn466=)	SLC3A1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 725403	NM_000341.4(SLC3A1):c.1473C>T (p.Ala491=)	SLC3A1	Single nucleotide variant (synonymous variant)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 18120	NM_000341.4(SLC3A1):c.1843C>A (p.Pro615Thr)	PREPL, SLC3A1 (P615T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 744990	NM_001171613.2(PREPL):c.1854C>T (p.Tyr618=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	Myasthenic syndrome, congenital, 22 +1 more	GBenign/Likely benign