Unique variants in the SLC22A5 gene

Information The variants shown are described using the NM_003060.3 transcript reference sequence.

116 entries on 2 pages. Showing entries 1 - 100.
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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 - c.-7877141_*13987321dup - - - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - Johan den Dunnen
+/. 1 - c.-56260T>A r.(?) p.(=) - pathogenic g.131649405T>A g.132313712T>A SLC22A4(NM_003059.3):c.596T>A (p.L199*) - SLC22A4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-35200T>C r.(?) p.(=) - likely benign g.131670465T>C g.132334772T>C SLC22A4(NM_003059.3):c.1101T>C (p.H367=) - SLC22A4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.-34150_-34148del r.(?) p.(=) - VUS g.131671515_131671517del g.132335822_132335824del SLC22A4(NM_003059.3):c.1266_1268delTTA (p.Y423del) - SLC22A4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-34036G>A r.(?) p.(=) - likely benign g.131671629G>A g.132335936G>A SLC22A4(NM_003059.3):c.1380G>A (p.A460=) - SLC22A4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/?, ?/? 2 1 c.-207C r.(?) p.(=) - pathogenic, VUS g.131705458G>C - c.-207G>C - SLC22A5_000045 1 more item PubMed: Peltekova 2004 - rs2631367 Unknown - - - - - LOVD
+/. 1 1 c.-149G>A r.(?) p.(=) - likely pathogenic (recessive) g.131705516G>A g.132369824G>A - - SLC22A5_000114 - - - - Germline - - - - - Hans Waterham
+/., +/? 2 1 c.-91_22del r.(?) p.0?, p.? - pathogenic, pathogenic (recessive) g.131705574_131705686del g.132369882_132369994del - - SLC22A5_000006 - PubMed: Koizumi 1999, PubMed: Nezu 1999 - - Germline, Unknown yes - - - - Johan den Dunnen
+/? 1 1 c.-78C>T r.(?) p.(=) - pathogenic g.131705587C>T g.132369895C>T - - SLC22A5_000074 - Koizumi et al., 1999 - - Unknown - - - - - LOVD
+/? 1 1 c.-77G>A r.(?) p.(=) - pathogenic g.131705588G>A g.132369896G>A - - SLC22A5_000073 - Koizumi et al., 1999 - - Unknown - - - - - LOVD
+/? 1 1 c.3G>T r.(?) p.(Met1?) - pathogenic g.131705667G>T g.132369975G>T Met1Ile - SLC22A5_000048 - PubMed: Dobrowolski 2005 - - Unknown - - - - - LOVD
+/., +/? 2 1 c.4dup r.(?) p.(Arg2Profs*136) - pathogenic, pathogenic (recessive) g.131705668dup g.132369976dup 5insC, c.4_5insC (p.(R2PfsX136)) - SLC22A5_000005 - PubMed: Koizumi 1999, PubMed: Nezu 1999 - - Germline, Unknown - - - - - Johan den Dunnen
+/?, ?/? 2 1 c.12C>G r.(?) p.(Tyr4*) - pathogenic, VUS g.131705676C>G g.132369984C>G - - SLC22A5_000025 - PubMed: Wang 2001 - rs72552722 Unknown - - - - - LOVD
+?/., ?/. 3 1 c.34G>A r.(?) p.(Gly12Ser) - likely pathogenic, VUS g.131705698G>A g.132370006G>A SLC22A5(NM_003060.4):c.34G>A (p.G12S) - SLC22A5_000088, SLC22A5_000101 2 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Hertz 2015, Journal: Hertz 2015, PubMed: Narang 2020, Journal: Narang 2020 - rs139203363 CLASSIFICATION record, Germline ? 2/2795 individuals - - - Christin Hertz, VKGL-NL_Utrecht, Mohammed Faruq
+/? 1 1_8i c.34_1428del r.(?) p.(Gly12_Leu476del) - pathogenic g.131705698_131728285del g.132370006_132392593del c.33_1427del (p.(G12_L477del)) - SLC22A5_000075 - Lamhonwah & Tein 1998 - - Unknown - - - - - LOVD
+/. 1 - c.42G>A r.(?) p.(Trp14*) - pathogenic g.131705706G>A g.132370014G>A - - SLC22A5_000123 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs796052036 Germline - 1/2795 individuals - - - Mohammed Faruq
?/? 2 1 c.51C>G r.(?) p.(Phe17Leu) - VUS g.131705715C>G g.132370023C>G - - SLC22A5_000082 - PubMed: Lee 2010 - rs11568520 Unknown - - - - - Ni-Chung Lee
+/?, ?/? 2 1 c.56G>C r.(?) p.(Arg19Pro) - pathogenic, VUS g.131705720G>C g.132370028G>C - - SLC22A5_000027 - PubMed: Wang 2001 - rs72552723 Unknown - - - - - LOVD
+/?, +?/. 2 1 c.67_69del r.(?) p.(Phe23del) - likely pathogenic, pathogenic g.131705731_131705733del g.132370039_132370041del 62_64delTCT - SLC22A5_000038 - PubMed: Haskell 2017, PubMed: Lamhonwah 2002 - - Germline, Unknown - - - - - Johan den Dunnen
+/?, ?/? 2 1 c.83G>T r.(?) p.(Ser28Ile) - pathogenic, VUS g.131705747G>T g.132370055G>T - - SLC22A5_000042 - PubMed: Rahbeeni 2002 - rs72552724 Unknown - - - - - LOVD
+/., +/?, ?/? 6 1 c.95A>G r.(?) p.(Asn32Ser) - pathogenic, VUS g.131705759A>G g.132370067A>G SLC22A5(NM_003060.3):c.95A>G (p.(Asn32Ser)), SLC22A5(NM_003060.4):c.95A>G (p.N32S) - SLC22A5_000040 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Lamhonwah 2002, PubMed: Narang 2020, Journal: Narang 2020, PubMed: Schimmenti 2007 - rs72552725 CLASSIFICATION record, Germline, Unknown - 1/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, Mohammed Faruq
?/. 1 - c.123C>G r.(?) p.(Phe41Leu) - VUS g.131705787C>G g.132370095C>G - - SLC22A5_000113 - - - - Germline - - - - - Belen Perez
+/., +/?, +?/. 7 1 c.136C>T r.(?) p.(Pro46Ser) - likely pathogenic, pathogenic g.131705800C>T g.132370108C>T 136C>G (P46S), SLC22A5(NM_003060.3):c.136C>T (p.P46S), SLC22A5(NM_003060.4):c.136C>T (p.P46S) - SLC22A5_000059, SLC22A5_000103 DNA/protein description differ, VKGL data sharing initiative Nederland PubMed: Schimmenti 2007 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/? 1 1 c.207G>C r.(?) p.(=) - pathogenic g.131705871G>C g.132370179G>C - - SLC22A5_000072 - Gazouli et al. 2005 - - Unknown - - - - - LOVD
+/? 1 1 c.235del r.(?) p.(His79Thrfs*51) - pathogenic g.131705899del g.132370207del c.232delC (p.(H79TfsX51)) - SLC22A5_000064 - Amat di San Filippo et al. 2006 - - Unknown - - - - - LOVD
+/?, +?/., ?/? 3 1 c.248G>T r.(?) p.(Arg83Leu) - likely pathogenic, pathogenic, VUS g.131705912G>T g.132370220G>T - - SLC22A5_000047 6 heterozygous, no homozygous; Clinindb (India) PubMed: Makhseed 2004, PubMed: Narang 2020, Journal: Narang 2020 - rs72552726 Germline, Unknown - 6/2783 individuals - - - Mohammed Faruq
+/? 1 1 c.254_264dup r.(?) p.(Ile89Glyfs*45) - pathogenic g.131705918_131705928dup g.132370226_132370236dup 254_264dupGGCTCGCCACC - SLC22A5_000026 - PubMed: Wang 2001 - - Unknown - - - - - LOVD
+/? 1 1 c.285T r.(?) p.(=) - pathogenic g.131705949C>T - c.285C>T (p.(L95L)) - SLC22A5_000029 1 more item PubMed: Tang 2002 - - Unknown - - - - - LOVD
-/. 2 - c.285T>C r.(?) p.(Leu95=) - benign g.131705949T>C g.132370257T>C SLC22A5(NM_003060.4):c.285T>C (p.L95=) - SLC22A5_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.287G>C r.(?) p.(Gly96Ala) - likely benign g.131705951G>C g.132370259G>C - - SLC22A5_000124 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs377767450 Germline - 4/2706 individuals - - - Mohammed Faruq
+/? 1 1 c.? r.(?) p.(=) - pathogenic g.131705955C>T - c.291C>T (p.(L97L)) - SLC22A5_000012 1 more item PubMed: Tang 1999 - - Unknown - - - - - LOVD
+/. 1 - c.321del r.(?) p.(Gln107HisfsTer23) - pathogenic g.131705985del g.132370293del SLC22A5(NM_001308122.1):c.321delG (p.Q107Hfs*23) - SLC22A4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ?/. 3 - c.364G>T r.(?) p.(Asp122Tyr) - likely pathogenic, VUS g.131706028G>T g.132370336G>T SLC22A5(NM_003060.3):c.364G>T (p.(Asp122Tyr)), SLC22A5(NM_003060.4):c.364G>T (p.D122Y) - SLC22A5_000090 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs201082652 CLASSIFICATION record, Germline - 5/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, Mohammed Faruq
-?/. 1 - c.394-191T>C r.(=) p.(=) - likely benign g.131713879T>C g.132378187T>C - - SLC22A5_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +/?, ?/? 6 2 c.396G>A r.(?) p.(Trp132*) - pathogenic, pathogenic (recessive), VUS g.131714072G>A g.132378380G>A - - SLC22A5_000004 - PubMed: Koizumi 1999, PubMed: Nezu 1999, PubMed: Tang 1999 - rs72552727 Germline, Unknown - - - - - Johan den Dunnen
-?/. 1 - c.415G>A r.(?) p.(Asp139Asn) - likely benign g.131714091G>A g.132378399G>A SLC22A5(NM_001308122.1):c.487G>A (p.D163N) - SLC22A5_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/? 1 2 c.424G>T r.(?) p.(Ala142Ser) - pathogenic g.131714100G>T g.132378408G>T - - SLC22A5_000054 - PubMed: Amat di San Filippo 2006 - - Unknown - - - - - LOVD
-/. 1 - c.430C>T r.(?) p.(Leu144Phe) - benign g.131714106C>T g.132378414C>T SLC22A5(NM_001308122.1):c.502C>T (p.L168F) - SLC22A5_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.457G>C r.(?) p.(Val153Leu) - VUS g.131714133G>C - - - SLC22A5_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/? 1 2 c.458_459del r.(?) p.(Val153Alafs*41) - pathogenic g.131714134_131714135del g.132378442_132378443del - - SLC22A5_000067 - Dobrowolski et al. 2005 - - Unknown - - - - - LOVD
?/. 1 - c.490T>C r.(?) p.(Ser164Pro) - VUS g.131714166T>C - SLC22A5(NM_001308122.1):c.562T>C (p.S188P) - SLC22A5_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/?, +?/. 3 3 c.505C>T r.(?) p.(Arg169Trp) - likely pathogenic, pathogenic g.131719846C>T g.132384154C>T SLC22A5(NM_001308122.1):c.577C>T (p.R193W) - SLC22A5_000021, SLC22A5_000106 1 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland PubMed: Narang 2020, Journal: Narang 2020, PubMed: Wang 2000b - rs121908890 CLASSIFICATION record, Germline, Unknown - 1/2795 individuals - - - VKGL-NL_VUmc, Mohammed Faruq
+/., +/? 2 3 c.506G>A r.(?) p.(Arg169Gln) - pathogenic, pathogenic (recessive) g.131719847G>A g.132384155G>A - - SLC22A5_000013 - PubMed: Burwinkel 1999, PubMed: Roman 2020, Journal: Roman 2020 - - Germline, Unknown - - - - - Johan den Dunnen
?/. 1 3 c.535A>T r.(?) p.(Met179Leu) - VUS g.131719876A>T g.132384184A>T - - SLC22A5_000016 2nd variant unknown (haplotype AB) PubMed: Koizumi 1999 - - Germline - - - - - LOVD
+/? 1 3 c.632A>G r.(?) p.(Tyr211Cys) - pathogenic g.131719973A>G g.132384281A>G - - SLC22A5_000014 - PubMed: Vaz 1999 - - Unknown - - - - - LOVD
?/. 1 - c.640G>T r.(?) p.(Ala214Ser) - VUS g.131719981G>T g.132384289G>T SLC22A5(NM_003060.3):c.640G>T (p.(Ala214Ser)) - SLC22A5_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.641C>T r.(?) p.(Ala214Val) - VUS g.131719982C>T g.132384290C>T SLC22A5(NM_003060.3):c.641C>T (p.(Ala214Val)) - SLC22A5_000071, SLC22A5_000108 conflicting interpretations of pathogenicity; 53 heterozygous, no homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs386134199 CLASSIFICATION record, Germline - 53/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
+/? 1 3 c.651_652insTATGGCCATCAGGTTGGAG r.(?) p.(Gly218Tyrfs*68) - pathogenic g.? - 652_653insTATGGCCATCAGGTTGGAG (p.(G218VfsX68)) - SLC22A5_000076 - Lamhonwah & Tein 1998 - - Unknown - - - - - LOVD
+/?, ?/? 2 3i c.652+1G>A r.spl? p.(=) - pathogenic, VUS g.131719994G>A g.132384302G>A - - SLC22A5_000037 - PubMed: Lamhonwah 2002 - - Unknown - - - - - Ni-Chung Lee
-/. 1 - c.652+6A>G r.(=) p.(=) - benign g.131719999A>G g.132384307= SLC22A5(NM_003060.4):c.652+6A>G - SLC22A5_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/? 1 4 c.654_824+1del r.(?) p.? - pathogenic g.131721021_131721192del g.132385329_132385500del c.653_824del (p.(T219SfsX20)) - SLC22A5_000077 - Lamhonwah & Tein 1998 - - Unknown - - - - - LOVD
+?/. 1 - c.680G>A r.(?) p.(Arg227His) - likely pathogenic g.131721047G>A g.132385355G>A - - SLC22A5_000092 11 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs185551386 Germline - 11/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.684A>G r.(?) p.(Ile228Met) - likely benign g.131721051A>G g.132385359A>G - - SLC22A5_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/?, ?/? 2 4 c.695C>T r.(?) p.(Thr232Met) - pathogenic, VUS g.131721062C>T g.132385370C>T - - SLC22A5_000049 - PubMed: Dobrowolski 2005 - - Germline, Unknown - - - - - Ni-Chung Lee
?/? 1 4 c.700G>C r.(?) p.(Gly234Arg) - VUS g.131721067G>C g.132385375G>C - - SLC22A5_000083 - PubMed: Lee 2010 - - Unknown - - - - - Ni-Chung Lee
+/?, ?/? 2 4 c.725G>T r.(?) p.(Gly242Val) - pathogenic, VUS g.131721092G>T g.132385400G>T - - SLC22A5_000022 - PubMed: Wang 2000b - rs72552728 Unknown - - - - - LOVD
+/., +/?, ?/? 6 4 c.760C>T r.(760c>u), r.(?) p.(Arg254*) - pathogenic, pathogenic (recessive), VUS g.131721127C>T g.132385435C>T - - SLC22A5_000030 - PubMed: Schimmenti 2007, PubMed: Tang 2002 ClinVar-000006426 - Germline, Unknown yes - - - - Wenjuan Qiu, Ni-Chung Lee
+/? 1 4 c.768G>A r.(?) p.(Trp256*) - pathogenic g.131721135G>A g.132385443G>A - - SLC22A5_000055 - PubMed: Amat di San Filippo 2006 - - Unknown - - - - - LOVD
+/? 1 4 c.769C>T r.(?) p.(Arg257Trp) - pathogenic g.131721136C>T g.132385444C>T - - SLC22A5_000062 - PubMed: Li 2010 - - Unknown - - - - - LOVD
?/? 1 4 c.797C>T r.(?) p.(Pro266Leu) - VUS g.131721164C>T g.132385472C>T - - SLC22A5_000095 - - - - Unknown - - - - - Ni-Chung Lee
+/? 1 4 c.806del r.(?) p.(Leu269Hisfs*27) - pathogenic g.131721173del g.132385481del - - SLC22A5_000065 - Cederbaum et al. 2002 - - Unknown - - - - - LOVD
+/? 1 4 c.807A r.(?) p.(=) - pathogenic g.131721174G>A - c.807G>A - SLC22A5_000031 1 more item PubMed: Tang 2002 - - Unknown - - - - - LOVD
-/. 2 - c.807A>G r.(?) p.(Leu269=) - benign g.131721174A>G g.132385482A>G SLC22A5(NM_003060.4):c.807A>G (p.L269=) - SLC22A5_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+/? 1 4i c.824+13T r.(spl?) p.? - pathogenic g.131721204C>T - c.824+13C>T - SLC22A5_000032 1 more item PubMed: Tang 2002 - - Unknown - - - - - LOVD
-/. 2 - c.824+13T>C r.(=) p.(=) - benign g.131721204T>C g.132385512T>C SLC22A5(NM_003060.4):c.824+13T>C - SLC22A5_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 2 - c.825-1G>C r.spl? p.? - likely pathogenic g.131722716G>C g.132387024G>C SLC22A5(NM_003060.4):c.825-1G>C - SLC22A5_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Nijmegen
+/? 1 5 c.825G>A r.(?) p.(Trp275*) - pathogenic g.131722717G>A g.132387025G>A - - SLC22A5_000050 - PubMed: Dobrowolski 2005 - - Unknown - - - - - LOVD
+/?, ?/. 3 5 c.839C>T r.(?) p.(Ser280Phe) - pathogenic, VUS g.131722731C>T g.132387039C>T - - SLC22A5_000046 no interpretation available; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Amat di San Filippo 2006, PubMed: Melegh 2004, PubMed: Narang 2020, Journal: Narang 2020 - rs386134208 Germline, Unknown - 1/2794 individuals - - - Mohammed Faruq
+/., +/? 3 5 c.844C>T r.(?) p.(Arg282*), p.(Arg282Ter) - pathogenic g.131722736C>T g.132387044C>T - - SLC22A5_000010 VKGL data sharing initiative Nederland PubMed: Schimmenti 2007, PubMed: Wang 1999 - - CLASSIFICATION record, Unknown - - - - - VKGL-NL_Nijmegen
+/? 1 5 c.844del r.(?) p.(Arg282Aspfs*14) - pathogenic g.131722736del g.132387044del c.839delC (p.(R282NfsX14)) - SLC22A5_000039 - PubMed: Lamhonwah 2002 - - Unknown - - - - - LOVD
+/., +/? 2 5 c.845G>A r.(?) p.(Arg282Gln) - pathogenic g.131722737G>A g.132387045G>A - - SLC22A5_000056 3 heterozygous, no homozygous; Clinindb (India) PubMed: Amat di San Filippo 2006, PubMed: Narang 2020, Journal: Narang 2020 - rs386134210 Germline, Unknown - 3/2795 individuals - - - Mohammed Faruq
+/? 1 5 c.847T>A r.(?) p.(Trp283Arg) - pathogenic g.131722739T>A g.132387047T>A - - SLC22A5_000057 - PubMed: Amat di San Filippo 2006 - - Unknown - - - - - LOVD
+/?, ?/? 2 5 c.847T>C r.(?) p.(Trp283Arg) - pathogenic, VUS g.131722739T>C g.132387047T>C - - SLC22A5_000018 - PubMed: Mayatepek 1999 - rs72552729 Unknown - - - - - LOVD
+/. 1 5 c.849G>T r.(?) p.(Trp283Cys) - pathogenic (recessive) g.131722741G>T g.132387049G>T - - SLC22A5_000017 haplotype C PubMed: Koizumi 1999 - - Germline - - - - - LOVD
+/? 1 5 c.865C>T r.(?) p.(Arg289*) - pathogenic g.131722757C>T g.132387065C>T - - SLC22A5_000051 - PubMed: Dobrowolski 2005 - - Unknown - - - - - LOVD
+/?, ?/? 2 5 c.902C>A r.(?) p.(Ala301Asp) - pathogenic, VUS g.131722794C>A g.132387102C>A - - SLC22A5_000023 - PubMed: Wang 2000b - rs72552730 Unknown - - - - - LOVD
-?/. 1 - c.904A>G r.(?) p.(Lys302Glu) - likely benign g.131722796A>G g.132387104A>G SLC22A5(NM_003060.3):c.904A>G (p.(Lys302Glu)) - SLC22A5_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/., ?/. 3 5 c.934A>G r.(?) p.(Ile312Val) - likely benign, VUS g.131722826A>G g.132387134A>G SLC22A5(NM_001308122.1):c.1006A>G (p.I336V), SLC22A5(NM_003060.4):c.934A>G (p.I312V) - SLC22A5_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - Sofie Lindgren Christiansen, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.939T>A r.(?) p.(Phe313Leu) - VUS g.131722831T>A - - - SLC22A5_000127 - PubMed: Haskell 2017 - - Germline - - - - - Johan den Dunnen
?/. 1 6 c.1007G>A r.(?) p.(Arg336Gln) - VUS g.131724668G>A g.132388976G>A - - SLC22A5_000129 - PubMed: Ganapathy 2019 - rs759529143 Germline - - - - - Johan den Dunnen
+/? 1 6 c.1009del r.(?) p.(Thr337Profs*12) - pathogenic g.131724670del g.132388978del - - SLC22A5_000033 - PubMed: Lamhonwah 2002 - - Unknown - - - - - LOVD
+/?, ?/? 2 6 c.1051T>C r.(?) p.(Trp351Arg) - pathogenic, VUS g.131724712T>C g.132389020T>C - - SLC22A5_000020 - PubMed: Wang 2000b - rs68018207 Unknown - - - - - LOVD
?/? 1 7 c.1085C>T r.(?) p.(Ser362Leu) - VUS g.131726414C>T g.132390722C>T - - SLC22A5_000078 - PubMed: Lee 2010 - - Unknown - - - - - Ni-Chung Lee
+/? 1 7 c.1088T>C r.(?) p.(Leu363Pro) - pathogenic g.131726417T>C g.132390725T>C - - SLC22A5_000063 - Akpinar et al. 2010 - - Unknown - - - - - LOVD
?/? 1 7 c.1139C>T r.(?) p.(Ala380Val) - VUS g.131726468C>T g.132390776C>T - - SLC22A5_000097 - - - - Germline - - - - - Ni-Chung Lee
+/?, ?/? 2 7 c.1161T>G r.(?) p.(Tyr387*) - pathogenic, VUS g.131726490T>G g.132390798T>G - - SLC22A5_000028 - PubMed: Tang 2002 - rs72552731 Unknown - - - - - LOVD
?/? 1 7 c.1188T>G r.(?) p.(Tyr396*) - VUS g.131726517T>G g.132390825T>G - - SLC22A5_000079 - PubMed: Lee 2010 - - Unknown - - - - - Ni-Chung Lee
+/?, +?/. 2 7 c.1193C>T r.(?) p.(Pro398Leu) - likely pathogenic, pathogenic g.131726522C>T g.132390830C>T - - SLC22A5_000052 1 heterozygous, no homozygous; Clinindb (India) PubMed: Amat di San Filippo 2006, PubMed: Narang 2020, Journal: Narang 2020 - rs144547521 Germline, Unknown - 1/2795 individuals - - - Mohammed Faruq
+?/. 2 7 c.1195C>T r.(?) p.(Arg399Trp) - likely pathogenic g.131726524C>T g.132390832C>T - - SLC22A5_000069 2 heterozygous, no homozygous; Clinindb (India) 0, PubMed: Narang 2020, Journal: Narang 2020 - rs267607054 Germline - 2/2794 individuals - - - Mohammed Faruq
+/? 1 7 c.1196G>A r.(?) p.(Arg399Gln) - pathogenic g.131726525G>A g.132390833G>A - - SLC22A5_000024 - PubMed: Wang 2001 - - Unknown - - - - - LOVD
+/? 1 7 c.1202dup r.(?) p.(Tyr401*) - pathogenic g.131726531dup g.132390839dup c.1202_1203insA (p.(Y401X)) - SLC22A5_000008 - PubMed: Wang 1999 - - Unknown - - - - - LOVD
+/? 1 7i c.1267+3_1267+23del r.(spl?) p.(=) - pathogenic g.? - c.1267del+3_+23 - SLC22A5_000066 - Dobrowolski et al. 2005 - - Unknown - - - - - LOVD
+/? 1 8 c.1304del r.(?) p.(Gly435Alafs*24) - pathogenic g.131728161del g.132392469del c.1302delG (p.(G434AfsX24)) - SLC22A5_000009 - PubMed: Wang 1999 - - Unknown - - - - - LOVD
+/?, ?/? 2 8 c.1319C>T r.(?) p.(Thr440Met) - pathogenic, VUS g.131728176C>T g.132392484C>T - - SLC22A5_000034 - PubMed: Lamhonwah 2002 - rs72552732 Unknown - - - - - LOVD
+/?, ?/? 3 8 c.1336G>T r.(?), r.1336g>u p.(Val446Phe) - pathogenic, VUS g.131728193G>T g.132392501G>T - - SLC22A5_000002 - PubMed: Mayatepek 1999 - rs72552733 Unknown - - - - - Nicola Longo
+/? 1 8 c.1340A>G r.(?) p.(Tyr447Cys) - pathogenic g.131728197A>G g.132392505A>G - - SLC22A5_000041 - PubMed: Rahbeeni 2002 - - Unknown - - - - - LOVD
+/?, ?/? 3 8 c.1345T>G r.(?) p.(Tyr449Asp) - pathogenic, VUS g.131728202T>G g.132392510T>G - - SLC22A5_000044 - PubMed: Amat di San Filippo et al. 2004, PubMed: Dobrowolski 2005 - rs11568514 Unknown - - - - - LOVD
+/?, ?/., ?/? 3 8 c.1354G>A r.(?) p.(Glu452Lys) - pathogenic, VUS g.131728211G>A g.132392519G>A - - SLC22A5_000019 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020, PubMed: Wang 2000a - rs72552734 Germline, Unknown - 2/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.1377A>G r.(?) p.(Arg459=) - likely benign g.131728234A>G - SLC22A5(NM_001308122.1):c.1449A>G (p.R483=) - SLC22A5_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1384G>A r.(?) p.(Gly462Ser) - VUS g.131728241G>A g.132392549G>A - - SLC22A5_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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