"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SLC7A9" - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 666217	NC_000019.10:g.(?_32830600)_(32868554_?)del	SLC7A9	Deletion	not provided	GPathogenic
Select item 2742162	NM_014270.5(SLC7A9):c.1446G>C (p.Pro482=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 889685	NM_014270.5(SLC7A9):c.1446G>A (p.Pro482=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2060879	NM_014270.5(SLC7A9):c.1445C>T (p.Pro482Leu)	SLC7A9 (P482L)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GPathogenic
Select item 783828	NM_014270.5(SLC7A9):c.1444C>T (p.Pro482Ser)	SLC7A9 (P482S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 889686	NM_014270.5(SLC7A9):c.1404G>A (p.Pro468=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328743	NM_014270.5(SLC7A9):c.1403C>T (p.Pro468Leu)	SLC7A9 (P468L)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GBenign/Likely benign
Select item 1978501	NM_014270.5(SLC7A9):c.1402C>T (p.Pro468Ser)	SLC7A9 (P468S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 208614	NM_014270.5(SLC7A9):c.1399+4_1399+7del	SLC7A9	Microsatellite (splice donor variant)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 804193	NM_014270.5(SLC7A9):c.1399+2dup	SLC7A9	Duplication (splice donor variant)	not provided	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 889689	NM_014270.5(SLC7A9):c.1365C>T (p.Val455=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 562455	NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)	SLC7A9 (Y451*)	Single nucleotide variant (nonsense)	Cystinuria +1 more	GPathogenic
Select item 328744	NM_014270.5(SLC7A9):c.1338C>T (p.Ser446=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2197772	NM_014270.5(SLC7A9):c.1329T>C (p.Phe443=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012908	NM_014270.5(SLC7A9):c.1323G>A (p.Val441=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974337	NM_014270.5(SLC7A9):c.1304G>A (p.Trp435Ter)	SLC7A9 (W435*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2725230	NM_014270.5(SLC7A9):c.1294A>C (p.Lys432Gln)	SLC7A9 (K432Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1408495	NM_014270.5(SLC7A9):c.1293C>A (p.Ser431Arg)	SLC7A9 (S431R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2853376	NM_014270.5(SLC7A9):c.1290C>T (p.Ile430=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1179151	NM_014270.5(SLC7A9):c.1262_1263del (p.Ser421fs)	SLC7A9 (S421fs)	Microsatellite (frameshift variant)	Cystinuria +1 more	GPathogenic
Select item 2064691	NM_014270.5(SLC7A9):c.1242C>T (p.Pro414=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1068795	NC_000019.10:g.32833324del	SLC7A9	Deletion	not provided	GPathogenic
Select item 3016412	NM_014270.5(SLC7A9):c.1225-5T>C	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 891247	NM_014270.5(SLC7A9):c.1199G>A (p.Arg400Lys)	SLC7A9 (R400K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1600745	NM_014270.5(SLC7A9):c.1182C>T (p.Ile394=)	SLC7A9	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 2057424	NM_014270.5(SLC7A9):c.1167G>A (p.Thr389=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2138267	NM_014270.5(SLC7A9):c.1166C>T (p.Thr389Met)	SLC7A9 (T389M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328746	NM_014270.5(SLC7A9):c.1161C>T (p.Gly387=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2845197	NM_014270.5(SLC7A9):c.1148G>T (p.Trp383Leu)	SLC7A9 (W383L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328747	NM_014270.5(SLC7A9):c.1143C>T (p.Ala381=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2771340	NM_014270.5(SLC7A9):c.1139T>C (p.Phe380Ser)	SLC7A9 (F380S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138268	NM_014270.5(SLC7A9):c.1137C>G (p.Ser379Arg)	SLC7A9 (S379R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 1449935	NM_014270.5(SLC7A9):c.1076G>T (p.Gly359Val)	SLC7A9 (G359V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1642952	NM_014270.5(SLC7A9):c.1075-9_1075-6del	SLC7A9	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1368223	NM_014270.5(SLC7A9):c.1075-8del	SLC7A9	Deletion (intron variant)	not provided	GUncertain significance
Select item 1671454	NM_014270.5(SLC7A9):c.1075-19C>A	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772458	NM_014270.5(SLC7A9):c.1074+15C>T	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 328748	NM_014270.5(SLC7A9):c.1074+14C>A	SLC7A9	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 667033	NM_014270.5(SLC7A9):c.1060G>A (p.Ala354Thr)	SLC7A9 (A354T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 328749	NM_014270.5(SLC7A9):c.1059C>T (p.Pro353=)	SLC7A9	Single nucleotide variant (synonymous variant)	Cystinuria +1 more	GConflicting classifications of pathogenicity
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 2853377	NM_014270.5(SLC7A9):c.993G>A (p.Ala331=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 161392	NM_014270.5(SLC7A9):c.988G>A (p.Val330Met)	SLC7A9 (V330M)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance
Select item 1078600	NM_014270.5(SLC7A9):c.987C>T (p.Tyr329=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2202005	NM_014270.5(SLC7A9):c.978-12G>A	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165737	NM_014270.5(SLC7A9):c.978-17G>A	SLC7A9	Single nucleotide variant (intron variant)	Cystinuria +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 2909054	NM_014270.5(SLC7A9):c.977+9C>T	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 892436	NM_014270.5(SLC7A9):c.972G>A (p.Ala324=)	SLC7A9	Single nucleotide variant (synonymous variant)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 504259	NM_014270.5(SLC7A9):c.956_957dup (p.Thr320fs)	SLC7A9 (T320fs)	Duplication (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 836401	NM_014270.5(SLC7A9):c.955G>A (p.Gly319Arg)	SLC7A9 (G319R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2155015	NM_014270.5(SLC7A9):c.943G>A (p.Gly315Ser)	SLC7A9 (G315S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714974	NM_014270.5(SLC7A9):c.942C>T (p.Ile314=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 955736	NM_014270.5(SLC7A9):c.886C>T (p.Arg296Cys)	SLC7A9 (R296C)	Single nucleotide variant (missense variant)	not provided +1 more	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 2057205	NM_014270.5(SLC7A9):c.874-15C>G	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2960265	NM_014270.5(SLC7A9):c.873G>A (p.Val291=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 871228	NM_014270.5(SLC7A9):c.857C>T (p.Ser286Phe)	SLC7A9 (S286F)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 962317	NM_014270.5(SLC7A9):c.844G>A (p.Glu282Lys)	SLC7A9 (E282K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1641515	NM_014270.5(SLC7A9):c.843C>T (p.Thr281=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1564530	NM_014270.5(SLC7A9):c.837T>G (p.Thr279=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 729977	NM_014270.5(SLC7A9):c.829G>A (p.Val277Met)	SLC7A9 (V277M)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 2061901	NM_014270.5(SLC7A9):c.828C>T (p.Thr276=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 328751	NM_014270.5(SLC7A9):c.827C>T (p.Thr276Ile)	SLC7A9 (T276I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1404534	NM_014270.5(SLC7A9):c.814G>A (p.Val272Met)	SLC7A9 (V272M)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance
Select item 933266	NM_014270.5(SLC7A9):c.812A>G (p.Asn271Ser)	SLC7A9 (N271S)	Single nucleotide variant (missense variant)	Cystinuria +1 more	GUncertain significance
Select item 2048167	NM_014270.5(SLC7A9):c.795G>A (p.Ala265=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 5789	NM_014270.5(SLC7A9):c.782C>T (p.Pro261Leu)	SLC7A9 (P261L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 5784	NM_014270.5(SLC7A9):c.775G>A (p.Gly259Arg)	SLC7A9 (G259R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2987334	NM_014270.5(SLC7A9):c.774C>G (p.Ile258Met)	SLC7A9 (I258M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 851227	NM_014270.5(SLC7A9):c.750-6T>A	SLC7A9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2917607	NM_014270.5(SLC7A9):c.749+16G>A	SLC7A9	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1170397	NM_014270.5(SLC7A9):c.749+6A>G	SLC7A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2193982	NM_014270.5(SLC7A9):c.749+5C>T	SLC7A9	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 328753	NM_014270.5(SLC7A9):c.723C>T (p.Ile241=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 655170	NM_014270.5(SLC7A9):c.705-2A>G	SLC7A9	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 5791	NM_014270.5(SLC7A9):c.695A>G (p.Tyr232Cys)	SLC7A9 (Y232C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328754	NM_014270.5(SLC7A9):c.687C>T (p.Leu229=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1967578	NM_014270.5(SLC7A9):c.678C>T (p.Tyr226=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 328755	NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met)	SLC7A9 (L223M)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 770656	NM_014270.5(SLC7A9):c.640G>A (p.Ala214Thr)	SLC7A9 (A214T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 288197	NM_014270.5(SLC7A9):c.614dup (p.Asn206fs)	SLC7A9 (N206fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 2080594	NM_014270.5(SLC7A9):c.605-12G>A	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 328756	NM_014270.5(SLC7A9):c.604+10G>A	SLC7A9	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 938724	NM_014270.5(SLC7A9):c.604+2T>C	SLC7A9	Single nucleotide variant (splice donor variant)	Cystinuria +1 more	GConflicting classifications of pathogenicity
Select item 1404775	NM_014270.5(SLC7A9):c.604+1G>A	SLC7A9	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1066719	NM_014270.5(SLC7A9):c.604G>C (p.Gly202Arg)	SLC7A9 (G202R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2997294	NM_014270.5(SLC7A9):c.585G>C (p.Gly195=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2042185	NM_014270.5(SLC7A9):c.573C>A (p.Ile191=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2727536	NM_014270.5(SLC7A9):c.562G>A (p.Val188Met)	SLC7A9 (V188M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1974262	NM_014270.5(SLC7A9):c.560_561delinsAA (p.Ile187Lys)	SLC7A9 (I187K)	Indel (missense variant)	not provided	GUncertain significance
Select item 1542473	NM_014270.5(SLC7A9):c.561C>T (p.Ile187=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 639224	NM_014270.5(SLC7A9):c.559A>T (p.Ile187Phe)	SLC7A9 (I187F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194547	NM_014270.5(SLC7A9):c.547G>A (p.Ala183Thr)	SLC7A9 (A183T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2164754	NM_014270.5(SLC7A9):c.547G>T (p.Ala183Ser)	SLC7A9 (A183S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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