All variants in the SLC16A2 gene

Information The variants shown are described using the NM_006517.4 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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Effect     

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     
-?/. - c.-102_-97dup r.(?) p.(=) - likely benign g.73641371_73641376dup - SLC16A2(NM_006517.5):c.-102_-97dupGGCAGC - SLC16A2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1A>T r.(?) p.(Met1?) - VUS g.73641473A>T g.74421638A>T SLC16A2(NM_006517.4):c.1A>T (p.M1?) - SLC16A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.24C>G r.(?) p.(Ser8Arg) - likely benign g.73641496C>G g.74421661C>G SLC16A2(NM_006517.4):c.24C>G (p.(Ser8Arg)) - SLC16A2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.44G>A r.(?) p.(Trp15*) ACMG likely pathogenic g.73641516G>A g.74421681G>A - - SLC16A2_000007 - PubMed: Trujillano 2017 - - Germline - - - 0 - Daniel Trujillano
-?/. - c.51G>C r.(?) p.(Glu17Asp) - likely benign g.73641523G>C - SLC16A2(NM_006517.4):c.51G>C (p.E17D) - SLC16A2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.97T>C r.(?) p.(Ser33Pro) - benign g.73641569T>C g.74421734T>C SLC16A2(NM_006517.4):c.97T>C (p.S33P) - SLC16A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.97T>C r.(?) p.(Ser33Pro) - benign g.73641569T>C g.74421734T>C SLC16A2(NM_006517.4):c.97T>C (p.S33P) - SLC16A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.123C>T r.(?) p.(Pro41=) - benign g.73641595C>T g.74421760C>T SLC16A2(NM_006517.4):c.123C>T (p.P41=) - SLC16A2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.125_130dup r.(?) p.(Glu42_Pro43dup) - VUS g.73641597_73641602dup - SLC16A2(NM_006517.4):c.125_130dupAGCCCG (p.E42_P43dup) - SLC16A2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.125_130dup r.(?) p.(Glu42_Pro43dup) - VUS g.73641597_73641602dup - SLC16A2(NM_006517.4):c.125_130dupAGCCCG (p.E42_P43dup) - SLC16A2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.181C>T r.(?) p.(Pro61Ser) - likely benign g.73641653C>T g.74421818C>T SLC16A2(NM_006517.4):c.181C>T (p.(Pro61Ser)) - SLC16A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.203A>G r.(?) p.(Glu68Gly) - likely benign g.73641675A>G g.74421840A>G SLC16A2(NM_006517.4):c.203A>G (p.E68G) - SLC16A2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.256C>T r.(?) p.(Arg86Cys) - VUS g.73641728C>T g.74421893C>T - - SLC16A2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.264C>T r.(?) p.(Thr88=) - likely benign g.73641736C>T - SLC16A2(NM_006517.4):c.264C>T (p.T88=) - SLC16A2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.272G>T r.(?) p.(Gly91Val) - VUS g.73641744G>T g.74421909G>T SLC16A2(NM_006517.5):c.272G>T (p.G91V) - SLC16A2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.290del r.(?) p.(Gly97ValfsTer33) - pathogenic g.73641762del g.74421927del SLC16A2(NM_006517.4):c.289delC (p.G97Vfs*33) - SLC16A2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.345C>T r.(?) p.(Phe115=) - likely benign g.73641817C>T g.74421982C>T SLC16A2(NM_006517.4):c.345C>T (p.F115=) - SLC16A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.412C>G r.(?) p.(Gln138Glu) - likely benign g.73641884C>G g.74422049C>G SLC16A2(NM_006517.4):c.412C>G (p.Q138E) - SLC16A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.434G>A r.(?) p.(Trp145Ter) - pathogenic g.73740828G>A g.74520993G>A SLC16A2(NM_006517.5):c.434G>A (p.W145*) - SLC16A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.527C>T r.(?) p.(Ala176Val) - likely benign g.73740921C>T - SLC16A2(NM_006517.4):c.527C>T (p.A176V) - SLC16A2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.528G>T r.(?) p.(Ala176=) - likely benign g.73740922G>T g.74521087G>T SLC16A2(NM_006517.4):c.528G>T (p.A176=) - SLC16A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.530G>A r.(?) p.(Gly177Glu) - VUS g.73740924G>A g.74521089G>A SLC16A2(NM_006517.4):c.530G>A (p.G177E) - SLC16A2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.530_532dup r.(?) p.(Gly177dup) - likely benign g.73740924_73740926dup g.74521089_74521091dup SLC16A2(NM_006517.4):c.527_528insGGG (p.(Ala176_Gly177insGly)) - SLC16A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.538G>A r.(?) p.(Val180Ile) - likely benign g.73740932G>A g.74521097G>A SLC16A2(NM_006517.4):c.538G>A (p.V180I) - SLC16A2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 2 c.575A>G r.(spl?) p.(His192Arg) - pathogenic g.73740969A>G g.74521134A>G - - SLC16A2_000002 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown ? - - 0 - Catherine Barriere
+?/. 3 c.590G>A r.(?) p.(Arg197His) - likely pathogenic g.73744208G>A g.74524373G>A NM_006517.3:c.812G>A (R271H) - SLC16A2_000004 - PubMed: Tzschach 2015 - - Germline ? - - 0 - Andreas Tzschach
+?/. 3 c.590G>A r.(?) p.(Arg197His) - likely pathogenic g.73744208G>A g.74524373G>A NM_006517.4:c.812G>A (R271H) - SLC16A2_000004 - - - - Germline yes - - 0 - Francesca Novara
+?/. - c.604G>A r.(?) p.(Gly202Arg) - likely pathogenic g.73744222G>A - SLC16A2(NM_006517.4):c.604G>A (p.G202R) - SLC16A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.634G>A r.(?) p.(Ala212Thr) - VUS g.73744252G>A g.74524417G>A SLC16A2(NM_006517.4):c.634G>A (p.A212T) - SLC16A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 3 c.644C>T r.(?) p.(Pro215Leu) - pathogenic (recessive) g.73744262C>T g.74524427C>T - - SLC16A2_000043 - PubMed: Martinez 2017, Journal: Martinez 2017 - - Germline - - - 0 - Johan den Dunnen
-?/? 3 c.669C>T r.(?) p.(=) - likely benign g.73744287C>T g.74524452C>T L223L - SLC16A2_000001 found once, non-recurrent change PubMed: Tarpey 2009 - - Germline ? 1/208 cases - 0 - Lucy Raymond
-?/. - c.676C>T r.(?) p.(Arg226Cys) - likely benign g.73744294C>T - SLC16A2(NM_006517.5):c.676C>T (p.R226C) - SLC16A2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.689_691del r.(?) p.(Leu230_Ala231delinsPro) - pathogenic g.73744307_73744309del g.74524472_74524474del SLC16A2(NM_006517.4):c.689_691delTCT (p.L230_A231delinsP) - SLC16A2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.766A>T r.(?) p.(Lys256Ter) - likely pathogenic g.73744384A>T g.74524549A>T - - SLC16A2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.873A>T r.(?) p.(Pro291=) - benign g.73744491A>T g.74524656A>T SLC16A2(NM_006517.4):c.873A>T (p.P291=) - SLC16A2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.873A>T r.(?) p.(Pro291=) - benign g.73744491A>T - SLC16A2(NM_006517.4):c.873A>T (p.P291=) - SLC16A2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.889C>T r.(?) p.(Arg297Cys) - VUS g.73744507C>T - SLC16A2(NM_006517.4):c.889C>T (p.R297C) - SLC16A2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.893C>A r.(?) p.(Thr298Asn) - likely benign g.73744511C>A g.74524676C>A SLC16A2(NM_006517.4):c.893C>A (p.T298N) - SLC16A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.940C>A r.(?) p.(Arg314=) - likely benign g.73744558C>A - SLC16A2(NM_006517.4):c.940C>A (p.R314=) - SLC16A2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.949C>T r.(?) p.(Arg317Cys) - likely benign g.73744567C>T g.74524732C>T SLC16A2(NM_006517.4):c.949C>T (p.R317C) - SLC16A2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 3 c.972G>A r.(?) p.(Trp324Ter) - likely pathogenic g.73744590G>A g.74524755G>A - - SLC16A2_000063 - PubMed: Ganapathy 2019 - - Germline - - - 0 - Johan den Dunnen
+/. 3 c.979G>A r.(?) p.(Gly327Arg) ACMG pathogenic g.73744597G>A g.74524762G>A - - SLC16A2_000040 - PubMed: TumienÄ— 2018 - - Germline - - - 0 - Johan den Dunnen
+/. - c.991_995dup r.(?) p.(Gly334Profs*11) - pathogenic (recessive) g.73744609_73744613dup g.74524774_74524778dup 990_991insGCTGC - SLC16A2_000068 - - - - Germline yes - - 0 - Johan den Dunnen
./. - c.995_999dup r.(?) p.(Gly334Profs*11) - pathogenic g.73744613_73744617dup g.74524778_74524782dup SLC16A2 insGCTGC G334Pfs*11 - SLC16A2_000041 - PubMed: Hu 2016 - - Germline - - - 0 - Johan den Dunnen
?/. - c.997C>T r.(?) p.(Leu333Phe) - VUS g.73744615C>T g.74524780C>T SLC16A2(NM_006517.4):c.997C>T (p.(Leu333Phe)) - SLC16A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1104C>A r.(?) p.(Gly368=) - likely benign g.73745662C>A g.74525827C>A SLC16A2(NM_006517.4):c.1104C>A (p.G368=), SLC16A2(NM_006517.5):c.1104C>A (p.G368=) - SLC16A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1104C>A r.(?) p.(Gly368=) - likely benign g.73745662C>A - SLC16A2(NM_006517.4):c.1104C>A (p.G368=), SLC16A2(NM_006517.5):c.1104C>A (p.G368=) - SLC16A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1111C>T r.(?) p.(Arg371Cys) - VUS g.73745669C>T g.74525834C>T SLC16A2(NM_006517.4):c.1111C>T (p.(Arg371Cys)) - SLC16A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.1111C>T r.(?) p.(Arg371Cys) - pathogenic (recessive) g.73745669C>T g.74525834C>T SLC16A2 R371C - SLC16A2_000026 - PubMed: Philips 2014, PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
?/. - c.1117G>A r.(?) p.(Val373Met) - VUS g.73745675G>A g.74525840G>A SLC16A2(NM_006517.4):c.1117G>A (p.(Val373Met)) - SLC16A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/. - c.1190T>C r.(?) p.(Leu397Pro) - pathogenic (recessive) g.73749067T>C g.74529232T>C - - SLC16A2_000056 - PubMed: Redin 2014 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1206G>C r.(?) p.(Met402Ile) - likely benign g.73749083G>C - SLC16A2(NM_006517.4):c.1206G>C (p.M402I) - SLC16A2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1242C>T r.(?) p.(Ile414=) - benign g.73749119C>T - SLC16A2(NM_006517.4):c.1242C>T (p.I414=) - SLC16A2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
./. - c.1246G>T r.(?) p.(Val416Phe) - pathogenic g.73749123G>T g.74529288G>T SLC16A2 V416F - SLC16A2_000042 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.1322C>A r.(?) p.(Pro441Gln) - pathogenic g.73749199C>A g.74529364C>A SLC16A2(NM_006517.4):c.1322C>A (p.P441Q) - SLC16A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 5 c.1333T>C r.(?) p.(Ser445Pro) - pathogenic g.73749210T>C g.74529375T>C 1333C>T - SLC16A2_000003 - - - - Unknown ? - - 0 - Catherine Barriere
?/. - c.1348T>C r.(?) p.(Tyr450His) - VUS g.73749225T>C g.74529390T>C SLC16A2(NM_006517.5):c.1348T>C (p.Y450H) - SLC16A2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.1428C>T r.(?) p.(Tyr476=) - likely benign g.73751196C>T - SLC16A2(NM_006517.4):c.1428C>T (p.Y476=) - SLC16A2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1449C>T r.(?) p.(Ala483=) - likely benign g.73751217C>T g.74531382C>T SLC16A2(NM_006517.4):c.1449C>T (p.A483=) - SLC16A2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 6 c.1468G>A r.(1468g>a) p.(Gly490Arg) - likely pathogenic g.73751236G>A g.74531401G>A NM_006517.3:c.1690G>A (G564R) - SLC16A2_000005 - - - - Germline yes - - 0 - Francesca Novara
+?/. 6 c.1469G>A r.(?) p.(Gly490Glu) - likely pathogenic g.73751237G>A g.74531402G>A NM_006517.3:c.1691G>A (G564E) - SLC16A2_000006 - - - - Germline yes - - 0 - Francesca Novara
-?/. - c.1502A>G r.(?) p.(His501Arg) - likely benign g.73751270A>G g.74531435A>G SLC16A2(NM_006517.4):c.1502A>G (p.H501R) - SLC16A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1503_1505del r.(?) p.(His501del) - pathogenic g.73751271_73751273del g.74531436_74531438del SLC16A2(NM_006517.4):c.1501_1503delTTC (p.H501del) - SLC16A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1574A>G r.(?) p.(Asn525Ser) - VUS g.73751342A>G g.74531507A>G - - SLC16A2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1590G>A r.(?) p.(Pro530=) - likely benign g.73751358G>A - SLC16A2(NM_006517.4):c.1590G>A (p.P530=) - SLC16A2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1596C>T r.(?) p.(Ser532=) - likely benign g.73751364C>T g.74531529C>T SLC16A2(NM_006517.4):c.1596C>T (p.S532=) - SLC16A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.*38C>A r.(=) p.(=) - VUS g.73751426C>A g.74531591C>A SLC16A2(NM_006517.4):c.*38C>A - SLC16A2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.*73del r.(?) p.(=) - pathogenic g.73751461del g.74531626del SLC16A2(NM_006517.4):c.*73delG - SLC16A2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
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