Unique variants in the FXYD2 gene

Information The variants shown are described using the NM_021603.3 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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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.-34C>T r.(?) p.(=) - benign g.117698762G>A g.117828047G>A FXYD2():g.117698762G>A - FXYD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.22G>A r.(?) p.(Gly8Ser) - likely benign g.117693430C>T - FXYD2(NM_001680.4):c.28G>A (p.(Gly10Ser)) - FXYD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.39C>T r.(?) p.(Asp13=) - benign g.117693413G>A g.117822698G>A FXYD2(NM_021603.4):c.39C>T (p.D13=) - FXYD2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.49T>C r.(?) p.(Phe17Leu) - likely benign g.117693403A>G - FXYD2(NM_001680.5):c.55T>C (p.F19L) - FXYD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.59-60A>G r.(=) p.(=) - benign g.117693255T>C g.117822540T>C FXYD2(NM_021603.4):c.59-60A>G, FXYD6-FXYD2(NM_001204268.3):c.299-60A>G - FXYD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.70G>A r.(?) p.(Val24Ile) - likely benign g.117693184C>T - FXYD2(NM_001680.5):c.76G>A (p.V26I) - FXYD2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.104C>A r.(?) p.(Ala35Asp) - VUS g.117693150G>T g.117822435G>T FXYD2(NM_021603.3):c.104C>A (p.A35D) - FXYD2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.115G>A r.(?) p.(Gly39Arg) - pathogenic g.117693139C>T g.117822424C>T - - FXYD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.120C>T r.(?) p.(Leu40=) - likely benign g.117693134G>A - FXYD2(NM_001680.5):c.126C>T (p.L42=) - FXYD2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.192G>T r.(?) p.(Pro64=) - likely benign g.117691390C>A g.117820675C>A FXYD2(NM_001680.5):c.198G>T (p.P66=) - FXYD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.*6+6C>A r.(=) p.(=) - benign, likely benign g.117691375G>T g.117820660G>T FXYD2(NM_001680.4):c.*6+6C>A (p.(=)), FXYD2(NM_001680.5):c.*6+6C>A - FXYD2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
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