Full data view for gene SLC52A3

Information The variants shown are described using the NM_033409.3 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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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     

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-/. - c.-14_-6del r.(?) p.(=) Unknown - benign g.746425_746433del g.765781_765789del SLC52A3(NM_033409.4):c.-14_-6delGGGCAGATA - SLC52A3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.9C>T r.(?) p.(Phe3=) Unknown - benign g.746410G>A g.765766G>A SLC52A3(NM_033409.4):c.9C>T (p.F3=) - SLC52A3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.25G>T r.(?) p.(Val9Phe) Unknown - VUS g.746394C>A g.765750C>A SLC52A3(NM_033409.4):c.25G>T (p.V9F) - SLC52A3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48C>G r.(?) p.(Ser16=) Unknown - likely benign g.746371G>C - SLC52A3(NM_001370086.1):c.48C>G (p.S16=), SLC52A3(NM_033409.3):c.48C>G (p.S16=) - SLC52A3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.48C>G r.(?) p.(Ser16=) Unknown - likely benign g.746371G>C - SLC52A3(NM_001370086.1):c.48C>G (p.S16=), SLC52A3(NM_033409.3):c.48C>G (p.S16=) - SLC52A3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.49T>C r.(?) p.(Trp17Arg) Parent #1 - pathogenic (recessive) g.746370A>G - - - SLC52A3_000051 - PubMed: Bosch 2011 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Bosch 2011 - - - Netherlands - - - - - 1 Johan den Dunnen
?/. - c.62A>G r.(?) p.(Asn21Ser) Unknown - VUS g.746357T>C - SLC52A3(NM_033409.3):c.62A>G (p.(Asn21Ser)) - SLC52A3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.71G>A r.(?) p.(Trp24*) Both (homozygous) ACMG likely pathogenic g.746348C>T g.765704C>T - - SLC52A3_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - bulbar palsy of childhood, progressive - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.82C>A r.(?) p.(Pro28Thr) Both (homozygous) - pathogenic (recessive) g.746337G>T - - - SLC52A3_000049 - PubMed: Johnson 2010 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES BVVLS FamDZ PubMed: Johnson 2010 4-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives F yes Turkey - - - - - 1 Johan den Dunnen
+/. ? c.106G>A r.(?) p.(Glu36Lys) Parent #1 - pathogenic (recessive) g.746313C>T g.765669C>T p.E36K - SLC52A3_000002 - PubMed: Green 2010 - - Unknown - - - - - DNA SEQ - - BVVLS1 Fam7-C9 PubMed: Green 2010 - M - - Europe - - - - 1 LOVD
+/. - c.160G>A r.(?) p.(Gly54Arg) Parent #1 - pathogenic (recessive) g.746259C>T - - - SLC52A3_000047 - PubMed: Johnson 2012 - - Germline - - - - - DNA SEQ - - BVVLS patient PubMed: Johnson 2012 - - - - - - - - - 1 Johan den Dunnen
?/. - c.211G>A r.(?) p.(Glu71Lys) Unknown - VUS g.746208C>T - SLC52A3(NM_033409.3):c.211G>A (p.E71K) - SLC52A3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.211G>A r.(?) p.(Glu71Lys) Paternal (confirmed) - pathogenic (recessive) g.746208C>T - - - SLC52A3_000046 variant not reported by Green PubMed: Johnson 2010 - - Germline yes - - - - DNA SEQ - - BVVLS1 Fam3-C4;Fam2008-410 PubMed: Green 2010, PubMed: Johnson 2010 2-generation family, 2 affected sibs (Johnson) M - United States Europe;Asia - - - - 2 LOVD
+/. ? c.211G>T r.(?) p.(Glu71*) Both (homozygous) - pathogenic (recessive) g.746208C>A g.765564C>A p.E71X - SLC52A3_000006 - PubMed: Green 2010 - - Germline - - - - - DNA SEQ - - BVVLS1 Fam2-C3 PubMed: Green 2010 - F - - Europe - - - - 1 LOVD
?/. - c.215T>A r.(?) p.(Val72Glu) Unknown - VUS g.746204A>T - SLC52A3(NM_001370086.1):c.215T>A (p.V72E), SLC52A3(NM_033409.4):c.215T>A (p.(Val72Glu)) - SLC52A3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215T>A r.(?) p.(Val72Glu) Unknown - VUS g.746204A>T - SLC52A3(NM_001370086.1):c.215T>A (p.V72E), SLC52A3(NM_033409.4):c.215T>A (p.(Val72Glu)) - SLC52A3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.222C>G r.(?) p.(Ile74Met) Unknown - benign g.746197G>C g.765553G>C SLC52A3(NM_033409.4):c.222C>G (p.I74M) - SLC52A3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.222C>G r.(?) p.(Ile74Met) Parent #1 - likely benign g.746197G>C g.765553G>C - - SLC52A3_000034 185 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35655964 Germline - 185/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 185 Mohammed Faruq
-?/. - c.222C>G r.(?) p.(Ile74Met) Both (homozygous) - likely benign g.746197G>C g.765553G>C - - SLC52A3_000034 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35655964 Germline - 4/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
+/. - c.224T>C r.(?) p.(Ile75Thr) Parent #2 - pathogenic (recessive) g.746195A>G - - - SLC52A3_000048 - PubMed: Johnson 2012 - - Germline - - - - - DNA SEQ - - BVVLS patient PubMed: Johnson 2012 - - - - - - - - - 1 Johan den Dunnen
-/. - c.240C>T r.(?) p.(Gly80=) Unknown - benign g.746179G>A g.765535G>A SLC52A3(NM_033409.4):c.240C>T (p.G80=) - SLC52A3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.240C>T r.(?) p.(Gly80=) Unknown - likely benign g.746179G>A - SLC52A3(NM_033409.4):c.240C>T (p.G80=) - SLC52A3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.241G>A r.(?) p.(Val81Met) Unknown - likely benign g.746178C>T g.765534C>T SLC52A3(NM_033409.3):c.241G>A (p.V81M) - SLC52A3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321C>T r.(?) p.(Ala107=) Unknown - benign g.746098G>A g.765454G>A SLC52A3(NM_033409.4):c.321C>T (p.A107=) - SLC52A3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321C>T r.(?) p.(Ala107=) Unknown - benign g.746098G>A g.765454G>A SLC52A3(NM_033409.4):c.321C>T (p.A107=) - SLC52A3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.339C>T r.(?) p.(Phe113=) Unknown - benign g.746080G>A g.765436G>A SLC52A3(NM_033409.4):c.339C>T (p.F113=) - SLC52A3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.394C>T r.(?) p.(Arg132Trp) Both (homozygous) - pathogenic (recessive) g.746025G>A g.765381G>A p.R132W - SLC52A3_000007 - PubMed: Green 2010 - - Germline yes - - - - DNA SEQ - - BVVLS1 Fam4-C5 PubMed: Green 2010 2-generation family, 2 affected, unaffected heterozygous carrier parents F - Pakistan - - - - - 2 LOVD
+/. ? c.394C>T r.(?) p.(Arg132Trp) Both (homozygous) - pathogenic (recessive) g.746025G>A g.765381G>A p.R132W - SLC52A3_000007 - PubMed: Green 2010 - - Germline yes - - - - DNA SEQ - - BVVLS1 Fam4-C6 PubMed: Green 2010 pat Fam4-C6 F - Pakistan - - - - - 1 LOVD
-?/. - c.395G>A r.(?) p.(Arg132Gln) Unknown - likely benign g.746024C>T g.765380C>T SLC52A3(NM_033409.3):c.395G>A (p.R132Q, p.(Arg132Gln)) - SLC52A3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.395G>A r.(?) p.(Arg132Gln) Unknown - likely benign g.746024C>T - SLC52A3(NM_033409.3):c.395G>A (p.R132Q, p.(Arg132Gln)) - SLC52A3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.456C>T r.(?) p.(Pro152=) Unknown - benign g.745963G>A g.765319G>A SLC52A3(NM_033409.4):c.456C>T (p.P152=) - SLC52A3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.521A>G r.(?) p.(Asp174Gly) Unknown - benign g.745898T>C - SLC52A3(NM_001370086.1):c.521A>G (p.D174G) - SLC52A3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.561C>T r.(?) p.(Ile187=) Unknown - likely benign g.745858G>A g.765214G>A SLC52A3(NM_033409.3):c.561C>T (p.I187=) - SLC52A3_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567+17G>A r.(=) p.(=) Unknown - likely benign g.745835C>T - SLC52A3(NM_001370086.1):c.567+17G>A - SLC52A3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568-16_568-15insATTGACCTG r.(=) p.(=) Unknown - benign g.744665_744666insGTCAATCAG g.764021_764022insGTCAATCAG SLC52A3(NM_033409.4):c.568-16_568-15insATTGACCTG, SLC52A3(NM_033409.4):c.568-19_568-18insCTGATTGAC - SLC52A3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568-16_568-15insATTGACCTG r.(=) p.(=) Unknown - benign g.744665_744666insGTCAATCAG g.764021_764022insGTCAATCAG SLC52A3(NM_033409.4):c.568-16_568-15insATTGACCTG, SLC52A3(NM_033409.4):c.568-19_568-18insCTGATTGAC - SLC52A3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568-16_568-15insATTGACCTG r.(=) p.(=) Unknown - benign g.744665_744666insGTCAATCAG g.764021_764022insGTCAATCAG SLC52A3(NM_033409.4):c.568-16_568-15insATTGACCTG, SLC52A3(NM_033409.4):c.568-19_568-18insCTGATTGAC - SLC52A3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.568-16_568-15insATTGACCTG r.(=) p.(=) Unknown - benign g.744665_744666insGTCAATCAG - SLC52A3(NM_033409.4):c.568-16_568-15insATTGACCTG, SLC52A3(NM_033409.4):c.568-19_568-18insCTGATTGAC - SLC52A3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.568-13_568-12insC r.(=) p.(=) Unknown - likely benign g.744659_744660insG g.764015_764016insG SLC52A3(NM_033409.4):c.568-13_568-12insC - SLC52A3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.568-8del r.(=) p.(=) Unknown - likely benign g.744656del g.764012del SLC52A3(NM_033409.4):c.568-8delC - SLC52A3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.600C>T r.(?) p.(Pro200=) Unknown - benign g.744615G>A - SLC52A3(NM_033409.4):c.600C>T (p.P200=) - SLC52A3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.639C>G r.(?) p.(Tyr213*) Maternal (confirmed) - pathogenic (recessive) g.744576G>C g.763932G>C - - SLC52A3_000008 reported as homozygous by Green PubMed: Green 2010, PubMed: Johnson 2010 - - Germline yes - - - - DNA SEQ - - BVVLS1 Fam3-C4;Fam2008-410 PubMed: Green 2010, PubMed: Johnson 2010 2-generation family, 2 affected sibs (Johnson) M - United States Europe;Asia - - - - 2 LOVD
+/. - c.639C>G r.(?) p.(Tyr213Ter) Unknown - pathogenic g.744576G>C g.763932G>C SLC52A3(NM_033409.4):c.639C>G (p.(Tyr213*)) - SLC52A3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.639C>G r.(?) p.(Tyr213*) Parent #2 - pathogenic (recessive) g.744576G>C - - - SLC52A3_000008 - PubMed: Bosch 2011 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Bosch 2011 - - - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.639C>G r.(?) p.(Tyr213Ter) Unknown - pathogenic g.744576G>C - SLC52A3(NM_033409.4):c.639C>G (p.(Tyr213*)) - SLC52A3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.645C>T r.(?) p.(Pro215=) Unknown - benign g.744570G>A g.763926G>A SLC52A3(NM_033409.4):c.645C>T (p.P215=) - SLC52A3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.670T>C r.(?) p.(Phe224Leu) Both (homozygous) - pathogenic (recessive) g.744545A>G g.763901A>G p.F224L - SLC52A3_000009 - PubMed: Green 2010 - - Germline - - - - - DNA SEQ - - BVVLS1 Fam5-C7 PubMed: Green 2010 - F - Pakistan - - - - - 1 LOVD
-/. - c.705C>T r.(?) p.(Leu235=) Unknown - benign g.744510G>A - SLC52A3(NM_001370086.1):c.705C>T (p.L235=) - SLC52A3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.742del r.(?) p.(Trp248Glyfs*41) Unknown ACMG likely pathogenic (recessive) g.744473del g.763829del - - SLC52A3_000052 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - DNA SEQ-NG-I - - BVVLS1 191308 - - F no Germany - - - - - 1 Andreas Laner
-/. - c.765C>T r.(?) p.(Leu255=) Unknown - benign g.744450G>A g.763806G>A SLC52A3(NM_033409.4):c.765C>T (p.L255=) - SLC52A3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.765C>T r.(?) p.(Leu255=) Unknown - benign g.744450G>A g.763806G>A SLC52A3(NM_033409.4):c.765C>T (p.L255=) - SLC52A3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.765C>T r.(?) p.(Leu255=) Unknown - benign g.744450G>A g.763806G>A SLC52A3(NM_033409.4):c.765C>T (p.L255=) - SLC52A3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.800C>T r.(?) p.(Pro267Leu) Unknown - benign g.744415G>A g.763771G>A SLC52A3(NM_033409.4):c.800C>T (p.P267L) - SLC52A3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.800C>T r.(?) p.(Pro267Leu) Unknown - benign g.744415G>A g.763771G>A SLC52A3(NM_033409.4):c.800C>T (p.P267L) - SLC52A3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.833C>T r.(?) p.(Thr278Met) Unknown - benign g.744382G>A g.763738G>A SLC52A3(NM_033409.4):c.833C>T (p.T278M) - SLC52A3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.907A>G r.(?) p.(Ile303Val) Unknown - benign g.744308T>C g.763664T>C SLC52A3(NM_033409.4):c.907A>G (p.I303V) - SLC52A3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.907A>G r.(?) p.(Ile303Val) Unknown - VUS g.744308T>C - - - SLC52A3_000025 - PubMed: Ciccolella 2013 - - Germline - - - - - DNA SEQ - - ? patient PubMed: Ciccolella 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - - - - 1 Johan den Dunnen
-?/. - c.945C>T r.(?) p.(Asn315=) Unknown - likely benign g.744270G>A - SLC52A3(NM_001370086.1):c.945C>T (p.N315=) - SLC52A3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.981G>C r.(?) p.(Leu327=) Unknown - likely benign g.744234C>G - SLC52A3(NM_033409.4):c.981G>C (p.L327=) - SLC52A3_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1047G>A r.(?) p.(Ser349=) Unknown - benign g.744168C>T g.763524C>T SLC52A3(NM_033409.3):c.1047G>A (p.S349=), SLC52A3(NM_033409.4):c.1047G>A (p.S349=) - SLC52A3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047G>A r.(?) p.(Ser349=) Unknown - likely benign g.744168C>T g.763524C>T SLC52A3(NM_033409.3):c.1047G>A (p.S349=), SLC52A3(NM_033409.4):c.1047G>A (p.S349=) - SLC52A3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. ? c.1048T>A r.(?) p.(Leu350Met) Both (homozygous) - likely benign g.744167A>T g.763523A>T p.L350M - SLC52A3_000010 - PubMed: Green 2010 - - Germline yes - - - - DNA SEQ - - BVVLS1 Fam1-C1 PubMed: Green 2010 2-generation family, 2 affected M - - Arab - - - - 2 LOVD
-?/. ? c.1048T>A r.(?) p.(Leu350Met) Both (homozygous) - likely benign g.744167A>T g.763523A>T p.L350M - SLC52A3_000010 - PubMed: Green 2010 - - Germline yes - - - - DNA SEQ - - BVVLS1 Fam1-C2 PubMed: Green 2010 PatC2 M - - Arabic - - - - 1 LOVD
-/. - c.1048T>A r.(?) p.(Leu350Met) Unknown - benign g.744167A>T g.763523A>T SLC52A3(NM_001370086.1):c.1048T>A (p.L350M), SLC52A3(NM_033409.3):c.1048T>A (p.(Leu350Met)), SLC52A3(NM_033409.4):c.1048T>A (p.L350M) - SLC52A3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1048T>A r.(?) p.(Leu350Met) Unknown - benign g.744167A>T - SLC52A3(NM_001370086.1):c.1048T>A (p.L350M), SLC52A3(NM_033409.3):c.1048T>A (p.(Leu350Met)), SLC52A3(NM_033409.4):c.1048T>A (p.L350M) - SLC52A3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1048T>A r.(?) p.(Leu350Met) Unknown - likely benign g.744167A>T - SLC52A3(NM_001370086.1):c.1048T>A (p.L350M), SLC52A3(NM_033409.3):c.1048T>A (p.(Leu350Met)), SLC52A3(NM_033409.4):c.1048T>A (p.L350M) - SLC52A3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1128C>G r.(?) p.(Tyr376Ter) Both (homozygous) - pathogenic (recessive) g.742414G>C g.761770G>C - - SLC52A3_000012 - PubMed: Westra 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Pat69 PubMed: Westra 2019 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1177T>C r.(?) p.(Trp393Arg) Unknown - VUS g.742365A>G g.761721A>G SLC52A3(NM_033409.4):c.1177T>C (p.W393R) - SLC52A3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1197+108C>T r.(=) p.(=) Unknown - benign g.742237G>A - SLC52A3(NM_033409.4):c.1197+108C>T - SLC52A3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1198-2A>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.741884T>G - - - SLC52A3_000050 - PubMed: Bosch 2011 - - Germline - - - - - DNA SEQ - - ? family PubMed: Bosch 2011 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents - - Netherlands - - - - - 1 Johan den Dunnen
-/. - c.1233T>C r.(?) p.(Ser411=) Unknown - benign g.741847A>G g.761203A>G SLC52A3(NM_033409.4):c.1233T>C (p.S411=) - SLC52A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1233T>C r.(?) p.(Ser411=) Unknown - benign g.741847A>G g.761203A>G SLC52A3(NM_033409.4):c.1233T>C (p.S411=) - SLC52A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. ? c.1238T>C r.(?) p.(Val413Ala) Parent #2 - VUS g.741842A>G g.761198A>G c.1237T>C, p.V413A - SLC52A3_000003 - PubMed: Green 2010 - - Germline - - - - - DNA SEQ - - BVVLS1 Fam7-C9 PubMed: Green 2010 - M - - Europe - - - - 1 LOVD
+/. - c.1317del r.(?) p.(Ser440Argfs*65) Both (homozygous) ACMG likely pathogenic g.741763del g.761119del - - SLC52A3_000018 - PubMed: Stalke 2019 - - Germline - - - - - DNA, RNA MLPA, RT-PCR, SEQ, SEQ-NG-I peripheral blood WES BVVLS1 Pat11 PubMed: Stalke 2019 family, 2 affected (sister/brother) F yes Germany - >10y - - - 2 Gunnar Schmidt
+?/. - c.1317del r.(?) p.(Ser440Argfs*65) Both (homozygous) ACMG likely pathogenic (recessive) g.741763del g.761119del - - SLC52A3_000018 - PubMed: Stalke 2019 - - Germline - - - - - DNA SEQ-NG-I peripheral blood - BVVLS1 brother PubMed: Stalke 2019 brother M yes Germany - - - - - 1 Gunnar Schmidt
+/. ? c.1325_1326del r.(?) p.(Leu442ArgfsTer64) Both (homozygous) - pathogenic (recessive) g.741755_741756del g.761111_761112del c.1325_1326 delTG, p.L442RfsX35 - SLC52A3_000004 - PubMed: Green 2010 - - Germline yes - - - - DNA SEQ - - BVVLS1 Fam1-C1 PubMed: Green 2010 2-generation family, 2 affected M - - Arab - - - - 2 LOVD
+/. ? c.1325_1326del r.(?) p.(Leu442ArgfsTer64) Both (homozygous) - pathogenic (recessive) g.741755_741756del g.761111_761112del c.1325_1326 delTG, p.L442RfsX35 - SLC52A3_000004 - PubMed: Green 2010 - - Germline yes - - - - DNA SEQ - - BVVLS1 Fam1-C2 PubMed: Green 2010 PatC2 M - - Arabic - - - - 1 LOVD
+/. ? c.1371C>G r.(?) p.(Phe457Leu) Both (homozygous) - pathogenic (recessive) g.741709G>C g.761065G>C p.F457L - SLC52A3_000005 - PubMed: Green 2010 - - Germline - - - - - DNA SEQ - - BVVLS1 Fam6-C8 PubMed: Green 2010 - F - - Europe - - - - 1 LOVD
+/. - c.1371C>G r.(?) p.(Phe457Leu) Both (homozygous) - pathogenic (recessive) g.741709G>C - - - SLC52A3_000005 - PubMed: Johnson 2012 - - Germline - - - - - DNA SEQ - - BVVLS patient PubMed: Johnson 2012 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1371C>G r.(?) p.(Phe457Leu) Unknown - VUS g.741709G>C - - - SLC52A3_000005 - - - rs145431028 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1373C>T r.(?) p.(Ser458Leu) Unknown - VUS g.741707G>A - SLC52A3(NM_033409.4):c.1373C>T (p.(Ser458Leu)) - SLC52A3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1374G>T r.(?) p.(Ser458=) Unknown - likely benign g.741706C>A - SLC52A3(NM_001370086.1):c.1374G>T (p.S458=) - SLC52A3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1381G>T r.(?) p.(Asp461Tyr) Unknown ACMG VUS g.741699C>A - - - SLC52A3_000053 ACMG: PM2_SUP, PM3_SUP, PP3 PMID: 27777325 VCV000476604.11 rs140360713 Germline ? - - - - DNA SEQ-NG-I - - BVVLS1 191308 - - F no Germany - - - - - 1 Andreas Laner
-/. - c.*16del r.(?) p.(=) Unknown - benign g.741657del g.761013del SLC52A3(NM_033409.4):c.*16delC - SLC52A3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*16del r.(?) p.(=) Unknown - benign g.741657del - SLC52A3(NM_033409.4):c.*16delC - SLC52A3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*751C>A r.(=) p.(=) Unknown - benign g.740919G>T - SLC52A3(NM_033409.4):c.*751C>A - SLC52A3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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