Unique variants in the SLC52A2 gene

Information The variants shown are described using the NM_024531.4 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.-4829G>A r.(?) p.(=) - VUS g.145577725G>A - TMEM249(NM_001280561.1):c.331C>T (p.R111C) - SLC52A2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.-2600_-2599insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA r.(?) p.(=) - likely benign g.145579954_145579955insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA g.144356294_144356295insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA FBXL6(NM_012162.2):c.1225+5_1225+6insTTGTTCTGGGTTGTGGCCAGGCACGTGAGGTGTGGGGGCCCTTGTGCCGTGC (p.(=)) - SLC52A2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.-2593_-2592insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC r.(?) p.(=) - likely benign g.145579961_145579962insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC g.144356301_144356302insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC 1 more item - SLC52A2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.13A>T r.(?) p.(Thr5Ser) - VUS g.145582966A>T g.144359306A>T SLC52A2(NM_024531.4):c.13A>T (p.T5S) - SLC52A2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.69C>T r.(?) p.(Ser23=) - likely benign g.145583022C>T g.144359362C>T SLC52A2(NM_001363118.2):c.69C>T (p.S23=) - SLC52A2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.138C>T r.(?) p.(Ser46=) - likely benign g.145583290C>T g.144359630C>T SLC52A2(NM_024531.4):c.138C>T (p.S46=) - SLC52A2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.149dup r.(?) p.(Tyr50Ter) - pathogenic g.145583301dup g.144359641dup SLC52A2(NM_024531.4):c.149dupA (p.Y50*) - SLC52A2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 2 - c.167C>T r.(?) p.(Ala56Val) - VUS g.145583319C>T g.144359659C>T SLC52A2(NM_001253815.1):c.167C>T (p.A56V) - SLC52A2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 2 - c.228C>T r.(?) p.(Asp76=) - likely benign g.145583380C>T g.144359720C>T SLC52A2(NM_024531.4):c.228C>T (p.D76=) - SLC52A2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.321A>G r.(?) p.(Gly107=) - likely benign g.145583473A>G g.144359813A>G SLC52A2(NM_024531.4):c.321A>G (p.G107=) - SLC52A2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.353C>A r.(?) p.(Ala118Asp) - likely benign, VUS g.145583505C>A g.144359845C>A SLC52A2(NM_024531.4):c.353C>A (p.A118D), SLC52A2(NM_024531.5):c.353C>A (p.A118D) - SLC52A2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.359T>C r.(?) p.(Val120Ala) - likely benign g.145583511T>C g.144359851T>C SLC52A2(NM_024531.4):c.359T>C (p.V120A) - SLC52A2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 3 c.401C>T r.(?) p.(Pro134Leu) - likely pathogenic g.145583553C>T g.144359893C>T - - SLC52A2_000002 - - - - Germline yes - - - - Claire Guissart
-/. 1 - c.555C>T r.(?) p.(Leu185=) - benign g.145583707C>T g.144360047C>T SLC52A2(NM_024531.5):c.555C>T (p.L185=) - SLC52A2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.556G>A r.(?) p.(Asp186Asn) - likely benign g.145583708G>A g.144360048G>A SLC52A2(NM_024531.4):c.556G>A (p.D186N) - SLC52A2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.593G>A r.(?) p.(Trp198Ter) - pathogenic g.145583745G>A g.144360085G>A - - SLC52A2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.808C>T r.(?) p.(Gln270Ter) - likely pathogenic g.145583960C>T g.144360300C>T SLC52A2(NM_024531.5):c.808C>T (p.Q270*) - SLC52A2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.847T>A r.(?) p.(Leu283Met) - likely benign g.145583999T>A g.144360339T>A SLC52A2(NM_024531.4):c.847T>A (p.L283M) - SLC52A2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 3 c.916G>A r.(?) p.(Gly306Arg) - pathogenic g.145584068G>A g.144360408G>A - - SLC52A2_000001 - - - - Germline yes - - - - Claire Guissart
-?/. 1 - c.1001+6C>T r.(=) p.(=) - likely benign g.145584159C>T g.144360499C>T SLC52A2(NM_024531.4):c.1001+6C>T - SLC52A2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1016T>C r.(?) p.(Leu339Pro) - likely pathogenic g.145584264T>C g.144360604T>C - - SLC52A2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1039G>A r.(?) p.(Val347Met) - likely benign g.145584287G>A g.144360627G>A SLC52A2(NM_024531.4):c.1039G>A (p.V347M) - SLC52A2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1089G>A r.(?) p.(Pro363=) - likely benign g.145584337G>A g.144360677G>A SLC52A2(NM_001363118.1):c.1089G>A (p.P363=), SLC52A2(NM_001363118.2):c.1089G>A (p.P363=) - SLC52A2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
?/. 1 - c.1106C>T r.(?) p.(Ser369Leu) - VUS g.145584354C>T g.144360694C>T SLC52A2(NM_024531.5):c.1106C>T (p.S369L) - SLC52A2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1110G>A r.(?) p.(Ala370=) - likely benign g.145584358G>A g.144360698G>A SLC52A2(NM_024531.4):c.1110G>A (p.A370=) - SLC52A2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1113G>A r.(?) p.(Gly371=) - likely benign g.145584361G>A g.144360701G>A SLC52A2(NM_001363118.2):c.1113G>A (p.G371=), SLC52A2(NM_024531.4):c.1113G>A (p.G371=) - SLC52A2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1122C>T r.(?) p.(Leu374=) - likely benign g.145584370C>T g.144360710C>T SLC52A2(NM_024531.5):c.1122C>T (p.L374=) - SLC52A2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1160_1162del r.(?) p.(Ser387del) - VUS g.145584497_145584499del g.144360837_144360839del SLC52A2(NM_024531.4):c.1160_1162delCCT (p.S387del) - SLC52A2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1173G>A r.(?) p.(Val391=) - likely benign g.145584510G>A g.144360850G>A SLC52A2(NM_024531.4):c.1173G>A (p.V391=) - SLC52A2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1204C>T r.(?) p.(Arg402Trp) - VUS g.145584541C>T g.144360881C>T SLC52A2(NM_024531.4):c.1204C>T (p.R402W) - SLC52A2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1257C>T r.(?) p.(Gly419=) - likely benign g.145584594C>T g.144360934C>T SLC52A2(NM_024531.4):c.1257C>T (p.G419=) - SLC52A2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1277C>T r.(?) p.(Pro426Leu) - VUS g.145584614C>T g.144360954C>T SLC52A2(NM_024531.4):c.1277C>T (p.P426L) - SLC52A2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*19C>T r.(=) p.(=) - benign g.145584694C>T g.144361034C>T - - SLC52A2_000036 14 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs34383175 Germline - 14/2793 individuals - - - Mohammed Faruq
-/. 1 - c.*56A>G r.(=) p.(=) - benign g.145584731A>G g.144361071A>G SLC52A2(NR_045600.1):n.1886A>G - SLC52A2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
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