"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC7A9"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323616	NM_014270.5(SLC7A9):c.1400-2A>G	SLC7A9	Single nucleotide variant (splice acceptor variant)	Cystinuria	GPathogenic
Select item 889688	NM_014270.5(SLC7A9):c.1369T>C (p.Tyr457His)	SLC7A9 (Y457H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 562455	NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)	SLC7A9 (Y451*)	Single nucleotide variant (nonsense)	Cystinuria +1 more	GPathogenic
Select item 1179151	NM_014270.5(SLC7A9):c.1262_1263del (p.Ser421fs)	SLC7A9 (S421fs)	Microsatellite (frameshift variant)	Cystinuria +1 more	GPathogenic
Select item 1600745	NM_014270.5(SLC7A9):c.1182C>T (p.Ile394=)	SLC7A9	Single nucleotide variant (synonymous variant)	Cystinuria +1 more	GBenign/Likely benign
Select item 784640	NM_014270.5(SLC7A9):c.1119G>A (p.Ser373=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 5787	NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)	SLC7A9 (R333W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 988237	NM_014270.5(SLC7A9):c.992C>T (p.Ala331Val)	SLC7A9 (A331V)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 161392	NM_014270.5(SLC7A9):c.988G>A (p.Val330Met)	SLC7A9 (V330M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1165737	NM_014270.5(SLC7A9):c.978-17G>A	SLC7A9	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1166532	NM_014270.5(SLC7A9):c.978-18C>T	SLC7A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1643578	NM_014270.5(SLC7A9):c.977+17G>A	SLC7A9	Single nucleotide variant (intron variant)	Cystinuria +1 more	GLikely benign
Select item 328750	NM_014270.5(SLC7A9):c.922T>C (p.Phe308Leu)	SLC7A9 (F308L)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 1560794	NM_014270.5(SLC7A9):c.874-14G>A	SLC7A9	Single nucleotide variant (intron variant)	Cystinuria +1 more	GLikely benign
Select item 1645530	NM_014270.5(SLC7A9):c.864G>A (p.Ala288=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1404534	NM_014270.5(SLC7A9):c.814G>A (p.Val272Met)	SLC7A9 (V272M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 933266	NM_014270.5(SLC7A9):c.812A>G (p.Asn271Ser)	SLC7A9 (N271S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 402239	NM_014270.5(SLC7A9):c.749+1G>C	SLC7A9	Single nucleotide variant (splice donor variant)	Cystinuria	GLikely pathogenic
Select item 631809	NM_014270.5(SLC7A9):c.671C>T (p.Ala224Val)	SLC7A9 (A224V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 288197	NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)	SLC7A9 (N206fs)	Duplication (frameshift variant)	Cystinuria +1 more	GPathogenic
Select item 5782	NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)	SLC7A9 (A182T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 5780	NM_014270.5(SLC7A9):c.508G>A (p.Val170Met)	SLC7A9 (V170M)	Single nucleotide variant (missense variant)	Cystinuria	GPathogenic
Select item 1132132	NM_014270.5(SLC7A9):c.468C>T (p.Ala156=)	SLC7A9	Single nucleotide variant (synonymous variant)	Cystinuria +1 more	GLikely benign
Select item 1050084	NM_014270.5(SLC7A9):c.466G>A (p.Ala156Thr)	SLC7A9 (A156T)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance
Select item 889751	NM_014270.5(SLC7A9):c.448G>A (p.Val150Ile)	SLC7A9 (V150I)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 961728	NM_014270.5(SLC7A9):c.411_412del (p.Pro139fs)	SLC7A9 (P139fs)	Microsatellite (frameshift variant)	Cystinuria +1 more	GPathogenic
Select item 5793	NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)	SLC7A9 (T123M)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 5781	NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)	SLC7A9 (G105R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 328765	NM_014270.5(SLC7A9):c.302T>A (p.Met101Lys)	SLC7A9 (M101K)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 1179193	NM_014270.5(SLC7A9):c.225C>T (p.Leu75=)	SLC7A9	Single nucleotide variant (synonymous variant)	Cystinuria	GLikely pathogenic
Select item 1179051	NM_014270.5(SLC7A9):c.209C>T (p.Ala70Val)	SLC7A9 (A70V)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GLikely pathogenic
Select item 1488770	NM_014270.5(SLC7A9):c.176C>T (p.Thr59Met)	SLC7A9 (T59M)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance
Select item 1101012	NM_014270.5(SLC7A9):c.45G>A (p.Ser15=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1057911	NM_014270.5(SLC7A9):c.44C>T (p.Ser15Leu)	SLC7A9 (S15L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1499457	NM_014270.5(SLC7A9):c.26G>A (p.Arg9Gln)	SLC7A9 (R9Q)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance

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Items: 35