Unique variants in the SLC7A7 gene

Information The variants shown are described using the NM_001126105.2 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 1 02c c.-43_499+1del r.spl? p.? - pathogenic g.23282109_23284530del g.22812900_22815321del 1 more item - SLC7A7_000001 1 Italian LPI family (hom) PubMed: Bosrsani et al. 1999 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 03 c.1A>C r.(1a>c) p.(Met1?) - pathogenic g.23282607T>G g.22813398T>G 242A>C: M1L - SLC7A7_000002 1 Italian (Puglia) LPI family (hom) PubMed: Sperandeo et al. 2000 - rs121908676 SUMMARY record yes - - - - Anne Polvi
+?/+? 1 03 c.14C>T r.(14c>u) p.(Thr5Ile) - likely pathogenic g.23282594G>A g.22813385G>A - - SLC7A7_000003 1 more item PubMed: Sperandeo et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.96G>A r.(?) p.(Lys32=) - benign g.23282512C>T g.22813303C>T SLC7A7(NM_001126106.2):c.96G>A (p.K32=) - SLC7A7_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 03 c.106_108del r.(?) p.(Glu36del) - pathogenic g.23282502_23282504del g.22813293_22813295del 1 more item - SLC7A7_000004 1 Greek LPI patient (com-het); Functional studies: mutated protein failed to show transport activity PubMed: Sperandeo et al. 2005 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 03 c.149T>A r.149u>a p.(Met50Lys) - pathogenic g.23282459A>T g.22813250A>T 435T>A: M50K; p.M50K (c.149T>A) - SLC7A7_000005 1 Italian LPI family (het); Functional studies confirmed disease-causative role PubMed: Palacín et al. 2001, PubMed: Sperandeo et al. 2005 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 03 c.158C>T r.(158c>u) p.(Ser53Leu) - likely pathogenic g.23282450G>A g.22813241G>A - - SLC7A7_000052 1 more item PubMed: Sperandeo et al. 2008 - - SUMMARY record yes - - - - Anne Polvi
-/. 3 - c.159G>A r.(?) p.(Ser53=) - benign g.23282449C>T g.22813240C>T SLC7A7(NM_001126106.2):c.159G>A (p.S53=) - SLC7A7_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+, +/. 2 03 c.161G>T r.(?), r.161g>u p.(Gly54Val) - pathogenic g.23282447C>A g.22813238C>A 447G>T (exon 3): G54V - SLC7A7_000006 1 Latvian and 1 Estonian (both hom) LPI family; Functional analysis: loss of function, 1 more item PubMed: Mykkänen et al. 2000, PubMed: Narang 2020, Journal: Narang 2020 - rs121908677 Germline, SUMMARY record yes 15/2655 individuals - - - Anne Polvi, Mohammed Faruq
+?/. 1 - c.173C>A r.(?) p.(Ser58Tyr) - likely pathogenic g.23282435G>T - SLC7A7(NM_001126106.2):c.173C>A (p.S58Y) - SLC7A7_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/+ 1 03 c.215_218del r.(?) p.(Ser72Trpfs*97) - pathogenic g.23282395_23282398del g.22813186_22813189del 455delCTCT: Frameshift after Leu71, termination at codon 167; c.211_214delCTCT p.S72WfsX97 - SLC7A7_000009 1 Italian (Molise) LPI family (hom) PubMed: Sperandeo et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+?/? 1 03 c.220_222dup r.(?) p.(Val74dup) - likely pathogenic g.23282386_23282388dup g.22813177_22813179dup c.223insGTC, p.Val74_Ile75insVal - SLC7A7_000054 2 Turkish patients (1 hom and 1 het) with LPI PubMed: Güzel-Ozantürk et al. 2013 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 03 c.235G>A r.(235g>a) p.(Gly79Arg) - likely pathogenic g.23282373C>T g.22813164C>T 235G>A - SLC7A7_000053 1 Malaysian LPI family (hom) PubMed: Habib et al. 2013 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 03 c.254_255del r.254_255deluu p.(Phe85Trpfs*13) - pathogenic g.23282354_23282355del g.22813145_22813146del 539delTT (exon 3) Frameshift after V84; c.253_254delTT p.F85WfsX13 - SLC7A7_000010 1 Turkish LPI family (hom) PubMed: Mykkänen et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.269A>T r.(?) p.(Tyr90Phe) - VUS g.23282339T>A g.22813130T>A - - SLC7A7_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.272C>A r.(?) p.(Ala91Glu) - VUS g.23282336G>T g.22813127G>T SLC7A7(NM_001126106.2):c.272C>A (p.A91E) - SLC7A7_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/., -?/. 2 - c.272C>T r.(?) p.(Ala91Val) - benign, likely benign g.23282336G>A g.22813127G>A SLC7A7(NM_001126106.2):c.272C>T (p.A91V) - SLC7A7_000071 7 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020 - rs11568438 CLASSIFICATION record, Germline - 7/2795 individuals - - - VKGL-NL_AMC, Mohammed Faruq
+?/+? 1 03 c.282_283insTGG r.(?) p.(Gly94_Thr95insTrp) - likely pathogenic g.23282325_23282326insCCA g.22813116_22813117insCCA c.283insTGG, p.Glu94_Thr95insTrp - SLC7A7_000055 1 Turkish patient with LPI (het) PubMed: Güzel-Ozantürk et al. 2013 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.335G>A r.(?) p.(Gly112Glu) - VUS g.23282273C>T g.22813064C>T SLC7A7(NM_001126106.2):c.335G>A (p.G112E) - SLC7A7_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.342C>T r.(?) p.(Phe114=) - benign g.23282266G>A - SLC7A7(NM_001126106.2):c.342C>T (p.F114=) - SLC7A7_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/+? 1 03 c.346_349del r.(?) p.(Ala116Serfs*53) - likely pathogenic g.23282262_23282265del g.22813053_22813056del c.344_347delTTGC, p.Leu115LeufsX53 - SLC7A7_000056 1 Turkish patient (hom) with LPI PubMed: Güzel-Ozantürk et al. 2013 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.359T>A r.(?) p.(Leu120His) - VUS g.23282249A>T - SLC7A7(NM_001126106.2):c.359T>A (p.L120H) - SLC7A7_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.363G>T r.(?) p.(Trp121Cys) - VUS g.23282245C>A g.22813036C>A - - SLC7A7_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 03 c.371T>C r.(370u>c) p.(Leu124Pro) - likely pathogenic g.23282237A>G g.22813028A>G c.370T>C p.L124P - SLC7A7_000007 2 Greek LPI families (com-het) PubMed: Sperandeo et al. 2008, PubMed: Font-Llitjos et al. 2009 - - SUMMARY record yes 0/50 CON - - - Anne Polvi
+?/+? 1 03 c.418G>C r.(418g>c) p.(Ala140Pro) - likely pathogenic g.23282190C>G g.22812981C>G c.418G>C p.A140P - SLC7A7_000008 1 Italian LPI family (com-het) PubMed: Sperandeo_2008 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 03 c.454T>C r.(454u>c) p.(Phe152Leu) - pathogenic g.23282154A>G g.22812945A>G from the first methionine, 453T>C: F152L - SLC7A7_000011 1 more item PubMed: Sperandeo 2005 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.456C>T r.(?) p.(Phe152=) - benign g.23282152G>A g.22812943G>A SLC7A7(NM_001126106.2):c.456C>T (p.F152=) - SLC7A7_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.475C>T r.(?) p.(Arg159Cys) - VUS g.23282133G>A g.22812924G>A - - SLC7A7_000076 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11568437 Germline - 1/2793 individuals - - - Mohammed Faruq
-/. 3 - c.498T>C r.(?) p.(Ile166=) - benign g.23282110A>G g.22812901A>G SLC7A7(NM_001126106.2):c.498T>C (p.I166=) - SLC7A7_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
+/+ 1 i03 c.499+1G>A r.-41_499del p.? - pathogenic g.23282108C>T g.22812899C>T IVS3 +1G>A in donor of intron 3; IVS3 +1G>A: exon 3 skipping - SLC7A7_000012 2 Japanese LPI families (com-het) PubMed: Sperandeo et al. 2000, PubMed: Kamada et al. 2001 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 i03- c.500-4294_1908+1028del r.? p.? - pathogenic g.23241434_23253569del g.22772225_22784360del c.500-4294_1908+1028 del12136: p.L168_N511delfsX19 - SLC7A7_000016 1 Spanish LPI family (com-het) PubMed: Font-Llitjos et al. 2009 - - SUMMARY record yes 0/50 CON - - - Anne Polvi
-?/. 1 - c.500-20C>G r.(=) p.(=) - likely benign g.23249280G>C - SLC7A7(NM_001126106.2):c.500-20C>G - SLC7A7_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/+ 1 i03-i04 c.500-?_625+?del r.500_625del p.(Cys167*) - pathogenic g.(?_23249135)_(23249260_?)del g.22779926_22780051del 1 more item - SLC7A7_000013 1 Pakistani LPI family (hom). PubMed: Palacín et al. 2001, PubMed: Sperandeo et al. 2005 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 31_5i c.500-?_770+?del r.500_770del p.(Cys167*) - pathogenic g.(?_23248002)_(23249260_?)del g.22778793_22780051del 1 more item - SLC7A7_000014 1 more item PubMed: Shoji et al. 2002, PubMed: Kamada et al. 2001 - - SUMMARY record yes 0/50 JAP CON - - - Anne Polvi
-?/. 1 - c.516T>C r.(?) p.(Ile172=) - likely benign g.23249244A>G - SLC7A7(NM_001126106.2):c.516T>C (p.I172=) - SLC7A7_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.519C>T r.(?) p.(Asn173=) - likely benign g.23249241G>A - SLC7A7(NM_001126106.2):c.519C>T (p.N173=) - SLC7A7_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 04 c.545dup r.(?) p.(Val183Glyfs*9) - pathogenic g.23249215dup g.22780006dup 786insT: Frameshift after Leu182, termination at codon 190; c.545_546insT - SLC7A7_000017 1 Italian (Sicilia) LPI family (hom) PubMed: Sperandeo et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 04 c.563C>T r.563c>u p.(Thr188Ile) - pathogenic g.23249197G>A g.22779988G>A 849C>T: T188I; p.T188I (c.563C>T) - SLC7A7_000018 1 Greek LPI family (com-het); Functional studies confirmed disease-causative role PubMed: Palacín et al. 2001, PubMed: Sperandeo et al. 2005 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 04 c.571A>G r.(571a>g) p.(Lys191Glu) - likely pathogenic g.23249189T>C g.22779980T>C c.571A>G p.K191E - SLC7A7_000019 1 German LPI family (com-het) PubMed: Sperandeo_2008 - - SUMMARY record yes - - - - Anne Polvi
-/. 1 - c.585G>A r.(?) p.(Leu195=) - benign g.23249175C>T g.22779966C>T SLC7A7(NM_001126106.2):c.585G>A (p.L195=) - SLC7A7_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 04 c.622C>T r.(622c>u) p.(Gln208*) - pathogenic g.23249138G>A g.22779929G>A c.622C>T p.Q208X - SLC7A7_000020 1 German LPI family (com-het) PubMed: Sperandeo_2008 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 i04 c.625+1G>A r.500_625del p.Cys167* - pathogenic g.23249134C>T g.22779925C>T 911+1G>A; IVS4+1G>A - SLC7A7_000021 1 more item PubMed: Mykkanen et al. 2000, PubMed: Noguchi et al.v2000, PubMed: Ko et al. 2012 - - SUMMARY record yes 0/50 JAP CON - - - Anne Polvi
+?/+? 1 i04 c.625+1G>C r.spl? p.? - likely pathogenic g.23249134C>G g.22779925C>G c.625+1G>C: p.C167_G209delinsX - SLC7A7_000022 1 English/Argentinean LPI family (com-het) PubMed: Font-Llitjos et al. 2009 - - SUMMARY record yes 0/50 CON - - - Anne Polvi
-/. 2 - c.660T>C r.(?) p.(Gly220=) - benign g.23248112A>G g.22778903A>G SLC7A7(NM_001126106.2):c.660T>C (p.G220=) - SLC7A7_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/+? 1 05 c.713C>T r.713c>u p.(Ser238Phe) - likely pathogenic g.23248059G>A g.22778850G>A TCC>TTC: S238F - SLC7A7_000023 8 Japanese LPI families (3 hom and 5 com-het) PubMed: Shoji et al. 2002 - - SUMMARY record yes 0/50 JAP CON - - - Anne Polvi
-?/. 2 - c.720A>C r.(?) p.(Ser240=) - likely benign g.23248052T>G - SLC7A7(NM_001126106.2):c.720A>C (p.S240=) - SLC7A7_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
+/+, +/. 3 05 c.726G>A r.(726g>a), r.(?) p.(Trp242*), p.(Trp242Ter) - pathogenic g.23248046C>T g.22778837C>T 967G>A: W242X; 1012G>A: W242X, SLC7A7(NM_001126106.2):c.726G>A (p.W242*) - SLC7A7_000024 2 Italian, 1 North African and 3 Moroccan LPI families (all hom), 1 more item PubMed: Sperandeo et al. 2000, PubMed: Mykkanen et al. 2000 - rs121908679 CLASSIFICATION record, SUMMARY record yes - - - - Anne Polvi, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.749A>T r.(?) p.(Glu250Val) - VUS g.23248023T>A g.22778814T>A - - SLC7A7_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 05 c.753G>T r.(753g>u) p.(Glu251Asp) - likely pathogenic g.23248019C>A g.22778810C>A c.753G>T p.E251D - SLC7A7_000025 1 Italian LPI family (hom) PubMed: Sperandeo_2008 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 i05- c.771-848_1908+718del4647 r.? p.? - pathogenic g.23241729_23246375del g.22772520_22777166del c.771-848_1908+718del4647: p.N258_N511delinsX - SLC7A7_000026 1 Spanish LPI family (hom) PubMed: Font-Llitjos et al. 2009 - - SUMMARY record yes 0/50 CON - - - Anne Polvi
+?/+? 1 06 c.782T>C r.(782u>c) p.(Leu261Pro) - likely pathogenic g.23245516A>G g.22776307A>G c.782T>C p.L261P - SLC7A7_000027 1 Italian LPI family (com-het) PubMed: Sperandeo_2008 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 06 c.820dup r.(?) p.(Tyr274Leufs*21) - pathogenic g.23245478dup g.22776269dup c.820dupT: p.Y274fsX21 - SLC7A7_000028 1 English/Argentinean LPI family (com-het) PubMed: Font-Llitjos et al. 2009 - - SUMMARY record yes 0/50 CON - - - Anne Polvi
+?/+? 1 i06 c.894+1G>T r.spl? p.? - likely pathogenic g.23245403C>A g.22776194C>A IVS6 +1G>T in donor of intron 6: no RNA studies - SLC7A7_000029 1 Japanese LPI family (com-het) PubMed: Sperandeo et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.894+6G>A r.(=) p.(=) - likely benign g.23245398C>T - SLC7A7(NM_001126106.2):c.894+6G>A - SLC7A7_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.894+103A>G r.(=) p.(=) - benign g.23245301T>C g.22776092T>C - - SLC7A7_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/+? 1 i06 c.895-2A>G r.spl? p.? - likely pathogenic g.23245147T>C g.22775938T>C A-to-G transition in a splice acceptor sequence 6 (IVS6-2A G) - SLC7A7_000031 1 Lithuanian LPI patient (hom) PubMed: Cimbalistiene et al. 2007 - - SUMMARY record yes - - - - Anne Polvi
+/+, +/. 2 i06 c.895-2A>T r.895_904delacuuuugcag, r.spl? p.?, p.Thr299Ilefs*10 ACMG pathogenic g.23245147T>A g.22775938T>A genomic change 1181-2A>T leads to alternative splicing: c.1181delACTTTTGCAG - SLC7A7_000030 Finnish Major LPI mutation: 35 Finnish LPI patients (hom); Functional analysis: loss of function PubMed: Torrens et al. 1999, PubMed: Bosrsani et al. 1999, PubMed: Trujillano 2017 - rs146582474 Germline, SUMMARY record yes - - - - Anne Polvi, Daniel Trujillano
+/+ 1 07 c.998G>T r.[998g>a, 895_998del, 895_998del; 1096_1245del, 771_998del; 1096_1245del] p.[Arg333Met, Thr299Alafs*13, Thr299Alafs*13, Asn258_Arg333del; Gly366_Lys415del] - pathogenic g.23245042C>A g.22775833C>A p.R333M (c.997G>T) - SLC7A7_000032 1 more item PubMed: Sperandeo et al. 2005 - - SUMMARY record yes - - - - Anne Polvi
+/., +?/+? 2 i07 c.998+1G>T r.spl? p.?, p? - likely pathogenic, pathogenic g.23245041C>A g.22775832C>A 1284+1G>T - SLC7A7_000033 3 Japanese LPI families (all com-het), VKGL data sharing initiative Nederland PubMed: Shoji et al. 2002 - - CLASSIFICATION record, SUMMARY record yes 0/50 JAP CON - - - Anne Polvi, VKGL-NL_Nijmegen
-?/. 3 - c.999G>A r.(?) p.(Arg333=) - likely benign g.23244749C>T g.22775540C>T SLC7A7(NM_001126106.2):c.999G>A (p.R333=) - SLC7A7_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
+/+ 1 08 c.1001T>G r.1001u>g p.Leu334Arg - pathogenic g.23244747A>C g.22775538A>C c.1287T>G: L334R - SLC7A7_000034 1 more item PubMed: Torrens et al. 1999, PubMed: Font-Llitjos et al. 2009 - rs72552272 SUMMARY record yes 0/50 CON - - - Anne Polvi
+/+ 1 08 c.1005_1008del r.1005_1008delcuuu p.Phe335Leufs*15 - pathogenic g.23244743_23244746del g.22775534_22775537del 1291delCTTT: framesift - SLC7A7_000035 3 Spanish LPI families (1 hom and 2 com-het) and 1 Japanese LPI family (com-het) PubMed: Torrens et al. 1999, PubMed: Mykkanen et al. 2000, PubMed: Shoji et al. 2002 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 09 c.1013G>A r.1013g>a p.(Gly338Asp) - likely pathogenic g.23244735C>T g.22775526C>T 1299G→A (exon 8): G338D - SLC7A7_000036 1 Swedish LPI family (hom) PubMed: Mykkanen et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
?/. 1 - c.1055A>G r.(?) p.(His352Arg) - VUS g.23244693T>C - SLC7A7(NM_001126106.2):c.1055A>G (p.H352R) - SLC7A7_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/+? 1 09 c.1093A>T r.(1093a>u) p.(Asn365Tyr) - likely pathogenic g.23244655T>A g.22775446T>A c.1093A>T p.N365Y - SLC7A7_000037 1 German LPI family (hom) PubMed: Sperandeo_2008 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 09 c.1098dup r.(?) p.(Ile367Tyrfs*17) - likely pathogenic g.23243710dup g.22774501dup c.1099insT, p.Ile367TyrfsX16 - SLC7A7_000057 2 Turkish patients (hom) with LPI PubMed: Güzel-Ozantürk et al. 2013 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 09 c.1147_1151dup r.(1147_1151dupaacua) p.(Tyr384*) - pathogenic g.23243657_23243661dup g.22774448_22774452dup 1438duplAACTA (exon 9): Y384X - SLC7A7_000038 1 Canadian LPI family (het) PubMed: Mykkanen et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 09 c.1158C>A r.(1158c>a) p.(Ser386Arg) - pathogenic g.23243650G>T g.22774441G>T 1399C>A: S386R - SLC7A7_000039 2 Italian (Calabria) LPI families (hom) PubMed: Sperandeo et al. 2000, PubMed: Sperandeo et al. 2005 - - SUMMARY record yes - - - - Anne Polvi
+/+, +/. 2 09 c.1185_1188del r.(?) p.(Ser396Leufs*122), p.(Ser396LeufsTer122) - pathogenic g.23243622_23243625del g.22774413_22774416del SLC7A7(NM_001126106.2):c.1185_1188delTTCT (p.S396Lfs*122), 1 more item - SLC7A7_000040 VKGL data sharing initiative Nederland, 1 more item 1 more item - - CLASSIFICATION record, SUMMARY record yes 0/50 CON - - - Anne Polvi, VKGL-NL_VUmc
+/+, +/. 2 09 c.1228C>T r.(?), r.1228c>u p.(Arg410*), p.(Arg410Ter) - pathogenic g.23243580G>A g.22774371G>A CGA>TGA: R410X, SLC7A7(NM_001126106.2):c.1228C>T (p.R410*) - SLC7A7_000041 12 Japanese LPI families (7 hom and 5 com-het) and 1 Moroccan LPI family (hom), 1 more item PubMed: Noguchi et al.v2000, PubMed: Shoji et al. 2002, PubMed: Font-Llitjos et al. 2009 - rs121908678 CLASSIFICATION record, SUMMARY record yes 0/50 JAP CON - - - Anne Polvi, VKGL-NL_Rotterdam
+/+ 1 10 c.1262del r.1262delc p.(Pro421Argfs*98) - pathogenic g.23243311del g.22774102del 1548delC (exon 10) Frameshift after F420 - SLC7A7_000042 1 Arabic LPI family (hom); Functional analysis: loss of function PubMed: Mykkanen et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+?/+?, ?/. 2 10 c.1273T>C r.(1273u>c), r.(?) p.(Cys425Arg) - likely pathogenic, VUS g.23243298A>G g.22774089A>G c.1273T>C: p.C425R, SLC7A7(NM_001126106.2):c.1273T>C (p.C425R) - SLC7A7_000043 1 Spanish LPI family (com-het), VKGL data sharing initiative Nederland PubMed: Font-Llitjos et al. 2009 - - CLASSIFICATION record, SUMMARY record yes 0/50 CON - - - Anne Polvi, VKGL-NL_Rotterdam
-?/. 1 - c.1321A>G r.(?) p.(Ile441Val) - likely benign g.23243250T>C - SLC7A7(NM_001126106.2):c.1321A>G (p.I441V) - SLC7A7_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 10 c.1344del r.1344delc p.(Ile449Leufs*70) - pathogenic g.23243228del g.22774019del 1630delC: premature stop codon at nucleotide 1839 - SLC7A7_000044 1 Japanese LPI family (com-het) PubMed: Shoji et al. 2002 - - SUMMARY record yes 0/50 JAP CON - - - Anne Polvi
-/. 1 - c.1362G>C r.(?) p.(Leu454=) - benign g.23243209C>G - SLC7A7(NM_001126106.2):c.1362G>C (p.L454=) - SLC7A7_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/+ 1 10 c.1371C>A r.1371c>a p.(Tyr457*) - pathogenic g.23243200G>T g.22773991G>T 1657C>A: Y457X; p.Y457X (c.1371C>A) - SLC7A7_000045 1 more item PubMed: Palacín et al. 2001, PubMed: Sperandeo et al. 2005, PubMed: Font-Llitjos et al. 2009 - - SUMMARY record yes - - - - Anne Polvi
-?/. 1 - c.1380C>G r.(?) p.(Ile460Met) - likely benign g.23243191G>C g.22773982G>C SLC7A7(NM_001126106.2):c.1380C>G (p.I460M) - SLC7A7_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/+ 1 10 c.1381_1384dup r.1381_1384dupauca p.Arg462Asnfs*7 - pathogenic g.23243187_23243190dup g.22773978_22773981dup 1 more item - SLC7A7_000046 4 Italian LPI families (hom) PubMed: Bosrsani et al. 1999, PubMed: Sperandeo et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+/+ 1 10 c.1387del r.1387delg p.(Val463Cysfs*56) - pathogenic g.23243184del g.22773975del 1673delG: premature stop codon at nucleotide 1841 - SLC7A7_000047 1 Japanese LPI family (com-het) PubMed: Shoji et al. 2002 - - SUMMARY record yes 0/50 JAP CON - - - Anne Polvi
+/+ 1 10 c.1402C>T r.(1402c>u) p.(Arg468*) - pathogenic g.23243169G>A g.22773960G>A c.1402C>T: p.R468X - SLC7A7_000048 1 Greek sibpair (com-het) with LPI PubMed: Font-Llitjos et al. 2009 - - SUMMARY record yes 0/50 CON - - - Anne Polvi
+/+, +?/. 4 10 c.1417C>T r.(?), r.1421c>t p.(Arg473*), p.(Arg473Ter) - likely pathogenic, pathogenic g.23243154G>A g.22773945G>A 1707C→T (exon 11): R473X, SLC7A7(NM_001126106.2):c.1417C>T (p.R473*) - SLC7A7_000049 1 Australian LPI family (hom), VKGL data sharing initiative Nederland PubMed: Mykkanen et al. 2000 - - CLASSIFICATION record, SUMMARY record yes - - - - Anne Polvi, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/+ 1 11 c.1460del r.1460delg p.(Cys487Leufs*32) - pathogenic g.23242895del g.22773686del 1746delG (exon 11) Frameshift after L486 - SLC7A7_000050 1 Dutch and 1 Norwegian LPI family (both hom) PubMed: Mykkanen et al. 2000 - - SUMMARY record yes - - - - Anne Polvi
+?/+? 1 11 c.1465T>C r.1465u>c p.(Ser489Pro) - likely pathogenic g.23242890A>G g.22773681A>G TCA>CCA: S489P - SLC7A7_000051 1 Japanese LPI family (com-het) PubMed: Shoji et al. 2002 - - SUMMARY record yes 0/50 JAP CON - - - Anne Polvi
-/. 3 - c.1527A>G r.(?) p.(Lys509=) - benign g.23242828T>C g.22773619T>C SLC7A7(NM_001126106.2):c.1527A>G (p.K509=) - SLC7A7_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
Legend   How to query