11136[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 155638	GRCh38/hg38 19q11-13.11(chr19:27780238-34783942)x3	ANKRD27, C19orf12 +210 more	Copy number gain	See cases	GUncertain significance
Select item 146619	GRCh38/hg38 19q12-13.13(chr19:29661858-38114723)x1	ALKBH6, ANKRD27 +459 more	Copy number loss	See cases	GPathogenic
Select item 147631	GRCh38/hg38 19q12-13.13(chr19:29671324-37902990)x1	ALKBH6, ANKRD27 +439 more	Copy number loss	See cases	GPathogenic
Select item 153499	GRCh38/hg38 19q12-13.12(chr19:31367353-35417098)x1	ANKRD27, CD22 +193 more	Copy number loss	See cases	GPathogenic
Select item 58341	GRCh38/hg38 19q13.11(chr19:32469643-32843761)x1	ANKRD27, DPY19L3 +19 more	Copy number loss	See cases	GUncertain significance
Select item 328739	NM_014270.5(SLC7A9):c.*82C>T	SLC7A9	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 328740	NM_014270.5(SLC7A9):c.*79T>C	SLC7A9	Single nucleotide variant (3 prime UTR variant)	Cystinuria +1 more	GBenign
Select item 328741	NM_014270.5(SLC7A9):c.*77T>C	SLC7A9	Single nucleotide variant (3 prime UTR variant)	Cystinuria	GUncertain significance
Select item 666217	NC_000019.10:g.(?_32830600)_(32868554_?)del	SLC7A9	Deletion	not provided	GPathogenic
Select item 328742	NM_014270.5(SLC7A9):c.*20C>T	SLC7A9	Single nucleotide variant (3 prime UTR variant)	Cystinuria	GUncertain significance
Select item 3045178	NM_014270.5(SLC7A9):c.*9G>A	SLC7A9	Single nucleotide variant (3 prime UTR variant)	SLC7A9-related disorder	GBenign
Select item 889684	NM_014270.5(SLC7A9):c.*8C>T	SLC7A9	Single nucleotide variant (3 prime UTR variant)	Cystinuria	GUncertain significance
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)	not provided	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 560031	Single allele	CEP89, SLC7A9	Deletion	Cystinuria	GLikely pathogenic
Select item 281744	NM_014270.5(SLC7A9):c.1428_1431dup (p.Glu478fs)	SLC7A9 (E478fs)	Duplication (frameshift variant)	not provided	GUncertain significance
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	GUncertain significance
Select item 1323616	NM_014270.5(SLC7A9):c.1400-2A>G	SLC7A9	Single nucleotide variant (splice acceptor variant)	Cystinuria	GPathogenic
Select item 1295545	NM_014270.5(SLC7A9):c.1400-129_1400-128dup	SLC7A9	Duplication (intron variant)	not provided	GBenign
Select item 1226133	NM_014270.5(SLC7A9):c.1400-127T>C	SLC7A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222556	NM_014270.5(SLC7A9):c.1400-185G>C	SLC7A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297408	NM_014270.5(SLC7A9):c.1399+75C>A	SLC7A9	Single nucleotide variant (intron variant)	not provided	GBenign
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 804181	NM_014270.5(SLC7A9):c.1399+5G>C	SLC7A9	Single nucleotide variant (intron variant)	Cystinuria +1 more	GLikely pathogenic
Select item 804193	NM_014270.5(SLC7A9):c.1399+2dup	SLC7A9	Duplication (splice donor variant)	not provided	GPathogenic
Select item 889687	NM_014270.5(SLC7A9):c.1399A>G (p.Lys467Glu)	SLC7A9 (K467E)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 974507	NM_014270.5(SLC7A9):c.1397C>A (p.Ser466Ter)	SLC7A9 (S466*)	Single nucleotide variant (nonsense)	Cystinuria	GPathogenic
Select item 2209677	NM_014270.5(SLC7A9):c.1388A>G (p.Gln463Arg)	SLC7A9 (Q463R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2690035	NM_014270.5(SLC7A9):c.1362T>G (p.Phe454Leu)	SLC7A9 (F454L)	Single nucleotide variant (missense variant)	Cystinuria	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 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 242913	NM_014270.5(SLC7A9):c.1224+4167_1324del	SLC7A9	Deletion (splice acceptor variant)	Cystinuria	GPathogenic
Select item 2012908	NM_014270.5(SLC7A9):c.1323G>A (p.Val441=)	SLC7A9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1325099	NM_014270.5(SLC7A9):c.1306G>T (p.Glu436Ter)	SLC7A9 (E436*)	Single nucleotide variant (nonsense)	Cystinuria	GLikely pathogenic
Select item 1974337	NM_014270.5(SLC7A9):c.1304G>A (p.Trp435Ter)	SLC7A9 (W435*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2585074	NM_014270.5(SLC7A9):c.1297C>T (p.Pro433Ser)	SLC7A9 (P433S)	Single nucleotide variant (missense variant)	Polycystic kidney disease, adult type	GUncertain significance
Select item 2725230	NM_014270.5(SLC7A9):c.1294A>C (p.Lys432Gln)	SLC7A9 (K432Q)	Single nucleotide variant (missense variant)	not provided	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 3320235	NM_014270.5(SLC7A9):c.1289T>C (p.Ile430Thr)	SLC7A9 (I430T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3356590	NM_014270.5(SLC7A9):c.1283C>T (p.Pro428Leu)	SLC7A9 (P428L)	Single nucleotide variant (missense variant)	SLC7A9-related disorder	GUncertain significance
Select item 891245	NM_014270.5(SLC7A9):c.1276C>T (p.Leu426=)	SLC7A9	Single nucleotide variant (synonymous variant)	Cystinuria	GUncertain significance
Select item 2490165	NM_014270.5(SLC7A9):c.1267T>G (p.Phe423Val)	SLC7A9 (F423V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479333	NM_014270.5(SLC7A9):c.1267T>C (p.Phe423Leu)	SLC7A9 (F423L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1325100	NM_014270.5(SLC7A9):c.1266_1267del (p.Leu424fs)	SLC7A9 (L424fs)	Microsatellite (frameshift variant)	Cystinuria	GLikely pathogenic
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 891246	NM_014270.5(SLC7A9):c.1242C>A (p.Pro414=)	SLC7A9	Single nucleotide variant (synonymous variant)	Cystinuria	GUncertain significance
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 328745	NM_014270.5(SLC7A9):c.1225-8G>A	SLC7A9	Single nucleotide variant (intron variant)	Cystinuria	GUncertain significance
Select item 1296172	NM_014270.5(SLC7A9):c.1225-46A>G	SLC7A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295547	NM_014270.5(SLC7A9):c.1224+246G>C	SLC7A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221452	NM_014270.5(SLC7A9):c.1224+122G>A	SLC7A9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2433572	NM_014270.5(SLC7A9):c.1210G>T (p.Glu404Ter)	SLC7A9 (E404*)	Single nucleotide variant (nonsense)	Cystinuria	GLikely pathogenic
Select item 1312957	NM_014270.5(SLC7A9):c.1204G>A (p.Glu402Lys)	SLC7A9 (E402K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 804195	NM_014270.5(SLC7A9):c.1201A>T (p.Lys401Ter)	SLC7A9 (K401*)	Single nucleotide variant (nonsense)	Cystine urolithiasis	GPathogenic
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)	Cystinuria +1 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 631548	NM_014270.5(SLC7A9):c.1112_1113del (p.Ile371fs)	SLC7A9 (I371fs)	Deletion (frameshift variant)	Cystinuria	GUncertain significance
Select item 2630193	NM_014270.5(SLC7A9):c.1080dup (p.Ile361fs)	SLC7A9 (I361fs)	Duplication (frameshift variant)	SLC7A9-related disorder	GLikely pathogenic
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 3031354	NM_014270.5(SLC7A9):c.1075-11_1075-9del	SLC7A9	Microsatellite (intron variant)	SLC7A9-related disorder	GLikely benign
Select item 1671454	NM_014270.5(SLC7A9):c.1075-19C>A	SLC7A9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1249232	NM_014270.5(SLC7A9):c.1075-310CAAAA[10]	SLC7A9	Microsatellite (intron variant)	not provided	GBenign
Select item 1247242	NM_014270.5(SLC7A9):c.1075-310CAAAA[8]	SLC7A9	Microsatellite (intron variant)	not provided	GBenign
Select item 1232486	NM_014270.5(SLC7A9):c.1075-310CAAAA[9]	SLC7A9	Microsatellite (intron variant)	not provided	GBenign
Select item 1290872	NM_014270.5(SLC7A9):c.1074+68C>T	SLC7A9	Single nucleotide variant (intron variant)	not provided	GBenign
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 3250412	NM_014270.5(SLC7A9):c.1074+5G>C	SLC7A9	Single nucleotide variant (intron variant)	Cystinuria	GUncertain significance
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 2690034	NM_014270.5(SLC7A9):c.1043G>A (p.Arg348His)	SLC7A9 (R348H)	Single nucleotide variant (missense variant)	Cystinuria	GUncertain significance
Select item 2620984	NM_014270.5(SLC7A9):c.1043G>T (p.Arg348Leu)	SLC7A9 (R348L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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

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