"PreventionGenetics, part of Exact Sciences"[submitter] AND "SLC3A1"[g - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3034811	NM_000341.4(SLC3A1):c.198G>A (p.Ala66=)	SLC3A1	Single nucleotide variant (synonymous variant)	SLC3A1-related disorder	GLikely benign
Select item 712263	NM_000341.4(SLC3A1):c.300C>T (p.Leu100=)	SLC3A1	Single nucleotide variant (synonymous variant)	SLC3A1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 943110	NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)	SLC3A1 (T216M)	Single nucleotide variant (missense variant)	Cystinuria +2 more	GPathogenic/Likely pathogenic
Select item 3045976	NM_000341.4(SLC3A1):c.766-6T>C	SLC3A1	Single nucleotide variant (intron variant)	SLC3A1-related disorder	GLikely benign
Select item 781945	NM_000341.4(SLC3A1):c.797T>C (p.Phe266Ser)	SLC3A1 (F266S)	Single nucleotide variant (missense variant)	SLC3A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 746372	NM_000341.4(SLC3A1):c.892-9C>T	SLC3A1	Single nucleotide variant (intron variant)	SLC3A1-related disorder +1 more	GLikely benign
Select item 2631746	NM_000341.4(SLC3A1):c.1052C>T (p.Thr351Ile)	SLC3A1 (T351I)	Single nucleotide variant (missense variant)	SLC3A1-related disorder	GUncertain significance
Select item 804176	NM_000341.4(SLC3A1):c.1084C>T (p.Arg362Cys)	SLC3A1 (R362C)	Single nucleotide variant (missense variant)	SLC3A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2636765	NM_000341.4(SLC3A1):c.1108C>T (p.Gln370Ter)	SLC3A1 (Q370*)	Single nucleotide variant (nonsense)	SLC3A1-related disorder	GPathogenic
Select item 3046942	NM_000341.4(SLC3A1):c.1221dup (p.Pro408fs)	SLC3A1 (P408fs)	Duplication (frameshift variant)	SLC3A1-related disorder	GPathogenic
Select item 1897757	NM_000341.4(SLC3A1):c.1364C>G (p.Ser455Trp)	SLC3A1 (S455W)	Single nucleotide variant (missense variant)	SLC3A1-related disorder +1 more	GUncertain significance
Select item 747687	NM_000341.4(SLC3A1):c.1389C>T (p.Asn463=)	SLC3A1	Single nucleotide variant (synonymous variant)	SLC3A1-related disorder +1 more	GLikely benign
Select item 18116	NM_000341.4(SLC3A1):c.1400T>A (p.Met467Lys)	SLC3A1 (M467K)	Single nucleotide variant (missense variant)	SLC3A1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2904920	NM_000341.4(SLC3A1):c.1756C>T (p.Leu586=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	SLC3A1-related disorder +1 more	GLikely benign
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 3048747	NM_000341.4(SLC3A1):c.2007C>T (p.Ser669=)	PREPL, SLC3A1	Single nucleotide variant (synonymous variant +1 more)	SLC3A1-related disorder	GLikely benign
Select item 3030251	NM_001171613.2(PREPL):c.1827+4T>C	PREPL, SLC3A1	Single nucleotide variant (intron variant)	PREPL-related disorder	GLikely benign