Full data view for gene SLC22A5

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

198 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
./. - c.-7877141_*13987321dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.-56260T>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-35200T>C r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-34150_-34148del r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-34036G>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.-207C r.(?) p.(=) Unknown - VUS g.131705458G>C - c.-207G>C - SLC22A5_000045 Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs2631367 Unknown - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? 1 c.-207C r.(?) p.(=) Parent #1 - pathogenic g.131705458G>C - c.-207G>C - SLC22A5_000045 Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Peltekova 2004 - - Unknown - - - 0 - DNA SEQ - - IBD1 - - - - - - - - 0 - - 1 LOVD
+/. 1 c.-149G>A r.(?) p.(=) Unknown - likely pathogenic (recessive) g.131705516G>A g.132369824G>A - - SLC22A5_000114 - - - - Germline - - - 0 - DNA - - - CDSP - - - - - - (not applicable) - - 0 - - 1 Hans Waterham
+/? 1 c.-91_22del r.(?) p.? Parent #1 - pathogenic g.131705574_131705686del g.132369882_132369994del - - SLC22A5_000006 - PubMed: Nezu 1999 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+/. 1 c.-91_22del r.(?) p.0? Both (homozygous) - pathogenic (recessive) g.131705574_131705686del g.132369882_132369994del - - SLC22A5_000006 - PubMed: Koizumi 1999 - - Germline yes - - 0 - DNA SEQ - - CDSP FamKR PubMed: Koizumi 1999 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Japan - - 0 - - 2 Johan den Dunnen
+/? 1 c.-78C>T r.(?) p.(=) Parent #1 - pathogenic g.131705587C>T g.132369895C>T - - SLC22A5_000074 - Koizumi et al., 1999 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+/? 1 c.-77G>A r.(?) p.(=) Parent #1 - pathogenic g.131705588G>A g.132369896G>A - - SLC22A5_000073 - Koizumi et al., 1999 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+/? 1 c.3G>T r.(?) p.(Met1?) Parent #1 - pathogenic g.131705667G>T g.132369975G>T Met1Ile - SLC22A5_000048 - PubMed: Dobrowolski 2005 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
+/? 1 c.4dup r.(?) p.(Arg2Profs*136) Parent #1 - pathogenic g.131705668dup g.132369976dup c.4_5insC (p.(R2PfsX136)) - SLC22A5_000005 - PubMed: Nezu 1999 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+/. - c.4dup r.(?) p.(Arg2Profs*136) Paternal (confirmed) - pathogenic (recessive) g.131705668dup g.132369976dup 5insC - SLC22A5_000005 - PubMed: Koizumi 1999 - - Germline - - - 0 - DNA SEQ - - CDSP FamAK PubMed: Koizumi 1999 4-generation family, affected, unaffected heterozygous carrier parents/relatives F - Japan - - 0 - - 1 Johan den Dunnen
?/? 1 c.12C>G r.(?) p.(Tyr4*) Unknown - VUS g.131705676C>G g.132369984C>G - - SLC22A5_000025 - - - rs72552722 Unknown - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? 1 c.12C>G r.(?) p.(Tyr4*) Parent #1 - pathogenic g.131705676C>G g.132369984C>G - - SLC22A5_000025 - PubMed: Wang 2001 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
+?/. 1 c.34G>A r.(?) p.(Gly12Ser) Unknown - likely pathogenic g.131705698G>A g.132370006G>A - - SLC22A5_000101 - PubMed: Hertz 2015, Journal: Hertz 2015 - - Germline ? - - 0 - DNA SEQ-NG-I Blood - SIDS - PubMed: Hertz 2015, Journal: Hertz 2015 - M ? Denmark Denmark 00y01m 0 - - 1 Christin Hertz
?/. - c.34G>A r.(?) p.(Gly12Ser) Parent #1 - VUS g.131705698G>A g.132370006G>A - - SLC22A5_000088 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs139203363 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.34G>A r.(?) p.(Gly12Ser) Unknown - VUS g.131705698G>A - SLC22A5(NM_003060.4):c.34G>A (p.G12S) - SLC22A5_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1_8i c.34_1428del r.(?) p.(Gly12_Leu476del) Parent #1 - pathogenic g.131705698_131728285del g.132370006_132392593del c.33_1427del (p.(G12_L477del)) - SLC22A5_000075 - Lamhonwah & Tein 1998 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+/. - c.42G>A r.(?) p.(Trp14*) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/? 1 c.51C>G r.(?) p.(Phe17Leu) Unknown - VUS g.131705715C>G g.132370023C>G - - SLC22A5_000082 - - - rs11568520 Unknown - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 1 c.51C>G r.(?) p.(Phe17Leu) Unknown - VUS g.131705715C>G g.132370023C>G - - SLC22A5_000082 - PubMed: Lee 2010 - - Unknown - - - 0 - DNA ? - - ? - - - - - - - - 0 - - 1 Ni-Chung Lee
?/? 1 c.56G>C r.(?) p.(Arg19Pro) Unknown - VUS g.131705720G>C g.132370028G>C - - SLC22A5_000027 - - - rs72552723 Unknown - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? 1 c.56G>C r.(?) p.(Arg19Pro) Parent #1 - pathogenic g.131705720G>C g.132370028G>C - - SLC22A5_000027 - PubMed: Wang 2001 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
+/? 1 c.67_69del r.(?) p.(Phe23del) Parent #1 - pathogenic g.131705731_131705733del g.132370039_132370041del - - SLC22A5_000038 - PubMed: Lamhonwah 2002 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+?/. - c.67_69del r.(?) p.(Phe23del) Unknown - likely pathogenic g.131705731_131705733del - 62_64delTCT - SLC22A5_000038 - PubMed: Haskell 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES ? NCG_00732 PubMed: Haskell 2017 analysis 55 patients F - United States white - 0 - - 1 Johan den Dunnen
?/? 1 c.83G>T r.(?) p.(Ser28Ile) Unknown - VUS g.131705747G>T g.132370055G>T - - SLC22A5_000042 - - - rs72552724 Unknown - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? 1 c.83G>T r.(?) p.(Ser28Ile) Parent #1 - pathogenic g.131705747G>T g.132370055G>T - - SLC22A5_000042 - PubMed: Rahbeeni 2002 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
?/? 1 c.95A>G r.(?) p.(Asn32Ser) Unknown - VUS g.131705759A>G g.132370067A>G - - SLC22A5_000040 - - - rs72552725 Unknown - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? 1 c.95A>G r.(?) p.(Asn32Ser) Parent #1 - pathogenic g.131705759A>G g.132370067A>G - - SLC22A5_000040 - PubMed: Lamhonwah 2002 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
+/? 1 c.95A>G r.(?) p.(Asn32Ser) Parent #1 - pathogenic g.131705759A>G g.132370067A>G - - SLC22A5_000040 - PubMed: Schimmenti 2007 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - F - United States - - 0 - - 1 LOVD
+/. - c.95A>G r.(?) p.(Asn32Ser) Parent #1 - pathogenic g.131705759A>G g.132370067A>G - - SLC22A5_000040 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72552725 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/. - c.95A>G r.(?) p.(Asn32Ser) Unknown - pathogenic g.131705759A>G - SLC22A5(NM_003060.3):c.95A>G (p.(Asn32Ser)), SLC22A5(NM_003060.4):c.95A>G (p.N32S) - SLC22A5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.95A>G r.(?) p.(Asn32Ser) Unknown - pathogenic g.131705759A>G - SLC22A5(NM_003060.3):c.95A>G (p.(Asn32Ser)), SLC22A5(NM_003060.4):c.95A>G (p.N32S) - SLC22A5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.123C>G r.(?) p.(Phe41Leu) Maternal (confirmed) - VUS g.131705787C>G g.132370095C>G - - SLC22A5_000113 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CDSP - - - - - - - - - - - 1 Belen Perez
+?/. - c.136C>T r.(?) p.(Pro46Ser) Unknown - likely pathogenic g.131705800C>T g.132370108C>T SLC22A5(NM_003060.3):c.136C>T (p.P46S), SLC22A5(NM_003060.4):c.136C>T (p.P46S) - SLC22A5_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 1 c.136C>T r.(?) p.(Pro46Ser) Parent #1 - pathogenic g.131705800C>T g.132370108C>T 136C>G (P46S) - SLC22A5_000059 DNA/protein description differ PubMed: Schimmenti 2007 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - F - United States - - 0 - - 1 LOVD
+/? 1 c.136C>T r.(?) p.(Pro46Ser) Parent #1 - pathogenic g.131705800C>T g.132370108C>T 136C>G (P46S) - SLC22A5_000059 DNA/protein description differ PubMed: Schimmenti 2007 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - F - United States - - 0 - - 1 LOVD
+/? 1 c.136C>T r.(?) p.(Pro46Ser) Parent #2 - pathogenic g.131705800C>T g.132370108C>T 136C>G (P46S) - SLC22A5_000059 DNA/protein description differ PubMed: Schimmenti 2007 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - F - United States - - 0 - - 1 LOVD
+?/. - c.136C>T r.(?) p.(Pro46Ser) Unknown - likely pathogenic g.131705800C>T - SLC22A5(NM_003060.3):c.136C>T (p.P46S), SLC22A5(NM_003060.4):c.136C>T (p.P46S) - SLC22A5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.136C>T r.(?) p.(Pro46Ser) Unknown - pathogenic g.131705800C>T - SLC22A5(NM_003060.3):c.136C>T (p.P46S), SLC22A5(NM_003060.4):c.136C>T (p.P46S) - SLC22A5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.136C>T r.(?) p.(Pro46Ser) Unknown - pathogenic g.131705800C>T - SLC22A5(NM_003060.3):c.136C>T (p.P46S), SLC22A5(NM_003060.4):c.136C>T (p.P46S) - SLC22A5_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.207G>C r.(?) p.(=) Parent #1 - pathogenic g.131705871G>C g.132370179G>C - - SLC22A5_000072 - Gazouli et al. 2005 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+/? 1 c.235del r.(?) p.(His79Thrfs*51) Parent #1 - pathogenic g.131705899del g.132370207del c.232delC (p.(H79TfsX51)) - SLC22A5_000064 - Amat di San Filippo et al. 2006 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
?/? 1 c.248G>T r.(?) p.(Arg83Leu) Unknown - VUS g.131705912G>T g.132370220G>T - - SLC22A5_000047 - - - rs72552726 Unknown - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? 1 c.248G>T r.(?) p.(Arg83Leu) Parent #1 - pathogenic g.131705912G>T g.132370220G>T - - SLC22A5_000047 - PubMed: Makhseed 2004 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
+?/. - c.248G>T r.(?) p.(Arg83Leu) Parent #1 - likely pathogenic g.131705912G>T g.132370220G>T - - SLC22A5_000047 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs72552726 Germline - 6/2783 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
+/? 1 c.254_264dup r.(?) p.(Ile89Glyfs*45) Parent #1 - pathogenic g.131705918_131705928dup g.132370226_132370236dup 254_264dupGGCTCGCCACC - SLC22A5_000026 - PubMed: Wang 2001 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+/? 1 c.285T r.(?) p.(=) Parent #1 - pathogenic g.131705949C>T - c.285C>T (p.(L95L)) - SLC22A5_000029 Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Tang 2002 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
-/. - c.285T>C r.(?) p.(Leu95=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.285T>C r.(?) p.(Leu95=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.287G>C r.(?) p.(Gly96Ala) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 4 Mohammed Faruq
+/? 1 c.? r.(?) p.(=) Parent #1 - pathogenic g.131705955C>T - c.291C>T (p.(L97L)) - SLC22A5_000012 Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Tang 1999 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+/. - c.321del r.(?) p.(Gln107HisfsTer23) Unknown - pathogenic g.131705985del g.132370293del SLC22A5(NM_001308122.1):c.321delG (p.Q107Hfs*23) - SLC22A4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.364G>T r.(?) p.(Asp122Tyr) Parent #1 - VUS g.131706028G>T g.132370336G>T - - SLC22A5_000090 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201082652 Germline - 5/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
?/. - c.364G>T r.(?) p.(Asp122Tyr) Unknown - 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 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.364G>T r.(?) p.(Asp122Tyr) Unknown - likely pathogenic g.131706028G>T - SLC22A5(NM_003060.3):c.364G>T (p.(Asp122Tyr)), SLC22A5(NM_003060.4):c.364G>T (p.D122Y) - SLC22A5_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.394-191T>C r.(=) p.(=) Unknown - likely benign g.131713879T>C g.132378187T>C - - SLC22A5_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.396G>A r.(?) p.(Trp132*) Unknown - VUS g.131714072G>A g.132378380G>A - - SLC22A5_000004 - - - rs72552727 Unknown - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? 2 c.396G>A r.(?) p.(Trp132*) Parent #1 - pathogenic g.131714072G>A g.132378380G>A - - SLC22A5_000004 - PubMed: Nezu 1999 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
+/? 2 c.396G>A r.(?) p.(Trp132*) Parent #1 - pathogenic g.131714072G>A g.132378380G>A - - SLC22A5_000004 - PubMed: Tang 1999 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+/. - c.396G>A r.(?) p.(Trp132*) Both (homozygous) - pathogenic (recessive) g.131714072G>A g.132378380G>A - - SLC22A5_000004 - PubMed: Koizumi 1999 - - Germline - - - 0 - DNA SEQ - - CDSP FamTM PubMed: Koizumi 1999 2-generation family, 1 addected F - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.396G>A r.(?) p.(Trp132*) Both (homozygous) - pathogenic (recessive) g.131714072G>A g.132378380G>A - - SLC22A5_000004 - PubMed: Koizumi 1999 - - Germline - - - 0 - DNA SEQ - - CDSP FamHR PubMed: Koizumi 1999 - F - Japan - - 0 - - 1 Johan den Dunnen
+/. - c.396G>A r.(?) p.(Trp132*) Maternal (confirmed) - pathogenic (recessive) g.131714072G>A g.132378380G>A - - SLC22A5_000004 - PubMed: Koizumi 1999 - - Germline - - - 0 - DNA SEQ - - CDSP FamAK PubMed: Koizumi 1999 4-generation family, affected, unaffected heterozygous carrier parents/relatives F - Japan - - 0 - - 1 Johan den Dunnen
-?/. - c.415G>A r.(?) p.(Asp139Asn) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.424G>T r.(?) p.(Ala142Ser) Parent #1 - pathogenic g.131714100G>T g.132378408G>T - - SLC22A5_000054 - PubMed: Amat di San Filippo 2006 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
-/. - c.430C>T r.(?) p.(Leu144Phe) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.457G>C r.(?) p.(Val153Leu) Unknown - VUS g.131714133G>C - - - SLC22A5_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.458_459del r.(?) p.(Val153Alafs*41) Parent #1 - pathogenic g.131714134_131714135del g.132378442_132378443del - - SLC22A5_000067 - Dobrowolski et al. 2005 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
?/. - c.490T>C r.(?) p.(Ser164Pro) Unknown - VUS g.131714166T>C - SLC22A5(NM_001308122.1):c.562T>C (p.S188P) - SLC22A5_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.505C>T r.(?) p.(Arg169Trp) Unknown - likely pathogenic g.131719846C>T g.132384154C>T SLC22A5(NM_001308122.1):c.577C>T (p.R193W) - SLC22A5_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 3 c.505C>T r.(?) p.(Arg169Trp) Parent #1 - pathogenic g.131719846C>T g.132384154C>T - - SLC22A5_000021 - PubMed: Wang 2000b - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
+?/. - c.505C>T r.(?) p.(Arg169Trp) Parent #1 - likely pathogenic g.131719846C>T g.132384154C>T - - SLC22A5_000021 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908890 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+/? 3 c.506G>A r.(?) p.(Arg169Gln) Parent #1 - pathogenic g.131719847G>A g.132384155G>A - - SLC22A5_000013 - PubMed: Burwinkel 1999 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
+/. - c.506G>A r.(?) p.(Arg169Gln) Both (homozygous) - pathogenic (recessive) g.131719847G>A - - - SLC22A5_000013 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES CDSP M014 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - 0 - - 1 Johan den Dunnen
?/. 3 c.535A>T r.(?) p.(Met179Leu) Parent #1 - VUS g.131719876A>T g.132384184A>T - - SLC22A5_000016 2nd variant unknown (haplotype AB) PubMed: Koizumi 1999 - - Germline - - - 0 - DNA SEQ - - CDSP Pat PubMed: Koizumi 1999 - - - Japan - - 0 - - 1 LOVD
+/? 3 c.632A>G r.(?) p.(Tyr211Cys) Parent #1 - pathogenic g.131719973A>G g.132384281A>G - - SLC22A5_000014 - PubMed: Vaz 1999 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
?/. - c.640G>T r.(?) p.(Ala214Ser) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.641C>T r.(?) p.(Ala214Val) Unknown - VUS g.131719982C>T g.132384290C>T SLC22A5(NM_003060.3):c.641C>T (p.(Ala214Val)) - SLC22A5_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.641C>T r.(?) p.(Ala214Val) Parent #1 - VUS g.131719982C>T g.132384290C>T - - SLC22A5_000071 conflicting interpretations of pathogenicity; 53 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs386134199 Germline - 53/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 53 Mohammed Faruq
+/? 3 c.651_652insTATGGCCATCAGGTTGGAG r.(?) p.(Gly218Tyrfs*68) Parent #1 - pathogenic g.? - 652_653insTATGGCCATCAGGTTGGAG (p.(G218VfsX68)) - SLC22A5_000076 - Lamhonwah & Tein 1998 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+/? 3i c.652+1G>A r.spl? p.(=) Parent #1 - pathogenic g.131719994G>A g.132384302G>A - - SLC22A5_000037 - PubMed: Lamhonwah 2002 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
?/? 3i c.652+1G>A r.spl? p.(=) Unknown - VUS g.131719994G>A g.132384302G>A - - SLC22A5_000037 - PubMed: Lamhonwah 2002 - - Unknown - - - 0 - DNA ? - - ? - - - - - - - - 0 - - 1 Ni-Chung Lee
-/. - c.652+6A>G r.(=) p.(=) Unknown - benign g.131719999A>G g.132384307= SLC22A5(NM_003060.4):c.652+6A>G - SLC22A5_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/? 4 c.654_824+1del r.(?) p.? Parent #1 - pathogenic g.131721021_131721192del g.132385329_132385500del c.653_824del (p.(T219SfsX20)) - SLC22A5_000077 - Lamhonwah & Tein 1998 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 LOVD
+?/. - c.680G>A r.(?) p.(Arg227His) Parent #1 - 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 - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 11 Mohammed Faruq
-?/. - c.684A>G r.(?) p.(Ile228Met) Unknown - likely benign g.131721051A>G g.132385359A>G - - SLC22A5_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 4 c.695C>T r.(?) p.(Thr232Met) Parent #1 - pathogenic g.131721062C>T g.132385370C>T - - SLC22A5_000049 - PubMed: Dobrowolski 2005 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
?/? 4 c.695C>T r.(?) p.(Thr232Met) Unknown - VUS g.131721062C>T g.132385370C>T - - SLC22A5_000049 - PubMed: Dobrowolski 2005 - - Germline - - - 0 - DNA PCR, SEQ - - ? - - - - - - - - 0 - - 1 Ni-Chung Lee
?/? 4 c.700G>C r.(?) p.(Gly234Arg) Unknown - VUS g.131721067G>C g.132385375G>C - - SLC22A5_000083 - PubMed: Lee 2010 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ni-Chung Lee
?/? 4 c.725G>T r.(?) p.(Gly242Val) Unknown - VUS g.131721092G>T g.132385400G>T - - SLC22A5_000022 - - - rs72552728 Unknown - - - 0 - DNA SEQ-NG - - ?, JBS - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/? 4 c.725G>T r.(?) p.(Gly242Val) Parent #1 - pathogenic g.131721092G>T g.132385400G>T - - SLC22A5_000022 - PubMed: Wang 2000b - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
+/? 4 c.760C>T r.(?) p.(Arg254*) Parent #1 - pathogenic g.131721127C>T g.132385435C>T - - SLC22A5_000030 - PubMed: Tang 2002 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - - - - - - 0 - - 1 LOVD
+/? 4 c.760C>T r.(?) p.(Arg254*) Parent #1 - pathogenic g.131721127C>T g.132385435C>T - - SLC22A5_000030 - PubMed: Schimmenti 2007 - - Unknown - - - 0 - DNA SEQ - - CDSP - - - F - United States - - 0 - - 1 LOVD
?/? 4 c.760C>T r.(?) p.(Arg254*) Unknown - VUS g.131721127C>T g.132385435C>T - - SLC22A5_000030 - PubMed: Tang 2002 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ni-Chung Lee
+/? 4 c.760C>T r.(?) p.(Arg254*) Unknown - pathogenic g.131721127C>T g.132385435C>T - - SLC22A5_000030 - PubMed: Tang 2002 - - Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Ni-Chung Lee
+/? 4 c.760C>T r.(?) p.(Arg254*) Unknown - pathogenic g.131721127C>T g.132385435C>T - - SLC22A5_000030 - PubMed: Tang 2002 - - Germline - - - 0 - DNA ? - - ? - - - - - - - - 0 - - 1 Ni-Chung Lee
+/. 4 c.760C>T r.(760c>u) p.(Arg254*) Paternal (confirmed) - pathogenic (recessive) g.131721127C>T g.132385435C>T - - SLC22A5_000030 - - ClinVar-000006426 - Germline yes - - 0 - DNA SEQ-NG blood gene panel CDSP NBS_84123 - - M no China Chinese - 0 - - 1 Wenjuan Qiu
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