Unique variants in the LEFTY2 gene

Information The variants shown are described using the NM_003240.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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.82C>T r.(?) p.(Leu28=) - likely benign g.226128759G>A g.225941059G>A LEFTY2(NM_003240.5):c.82C>T (p.L28=) - LEFTY2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.214C>T r.(?) p.(Arg72Cys) - likely benign g.226128627G>A g.225940927G>A LEFTY2(NM_003240.5):c.214C>T (p.R72C) - LEFTY2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.223G>A r.(?) p.(Gly75Arg) - likely benign g.226128618C>T g.225940918C>T LEFTY2(NM_003240.4):c.223G>A (p.G75R) - LEFTY2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.265T>C r.(?) p.(Phe89Leu) - likely benign g.226127688A>G - LEFTY2(NM_003240.4):c.265T>C (p.F89L) - LEFTY2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.272C>A r.(?) p.(Ala91Glu) - VUS g.226127681G>T g.225939981G>T LEFTY2(NM_001172425.1):c.272C>A (p.(Ala91Glu)) - LEFTY2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.316C>T r.(?) p.(Arg106Trp) - VUS g.226127637G>A g.225939937G>A LEFTY2(NM_003240.5):c.316C>T (p.R106W) - LEFTY2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.336G>A r.(?) p.(Glu112=) - likely benign g.226127617C>T g.225939917C>T LEFTY2(NM_003240.5):c.336G>A (p.E112=) - LEFTY2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.375C>T r.(?) p.(Val125=) - likely benign g.226127578G>A - LEFTY2(NM_003240.5):c.375C>T (p.V125=) - LEFTY2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.389T>G r.(?) p.(Leu130Arg) - VUS g.226127564A>C - LEFTY2(NM_003240.5):c.389T>G (p.L130R) - LEFTY2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.425A>G r.(?) p.(Gln142Arg) - likely benign g.226127528T>C g.225939828T>C - - LEFTY2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.435G>C r.(?) p.(Val145=) - likely benign g.226127518C>G g.225939818C>G LEFTY2(NM_003240.4):c.435G>C (p.V145=) - LEFTY2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.474C>T r.(?) p.(Asn158=) - benign g.226127479G>A g.225939779G>A - - LEFTY2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.475C>T r.(?) p.(Arg159Cys) - likely benign g.226127478G>A g.225939778G>A LEFTY2(NM_003240.5):c.475C>T (p.R159C) - LEFTY2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.482C>G r.(?) p.(Ser161Cys) - likely benign g.226127471G>C g.225939771G>C - - LEFTY2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.497+13C>G r.(=) p.(=) - benign g.226127443G>C g.225939743G>C LEFTY2(NM_003240.4):c.497+13C>G, LEFTY2(NM_003240.5):c.497+13C>G - LEFTY2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.669G>T r.(?) p.(Ser223=) - likely benign g.226127129C>A - LEFTY2(NM_003240.5):c.669G>T (p.S223=) - LEFTY2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.723C>G r.(?) p.(Asp241Glu) - VUS g.226127075G>C - LEFTY2(NM_003240.4):c.723C>G (p.D241E) - LEFTY2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.774C>T r.(?) p.(Thr258=) - benign g.226125468G>A g.225937768G>A LEFTY2(NM_003240.4):c.774C>T (p.T258=) - LEFTY2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.835A>G r.(?) p.(Lys279Glu) - likely benign g.226125407T>C g.225937707T>C - - LEFTY2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.857C>T r.(?) p.(Pro286Leu) - benign, likely benign g.226125385G>A g.225937685G>A 1 more item - LEFTY2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.903G>A r.(?) p.(Pro301=) - likely benign g.226125339C>T g.225937639C>T LEFTY2(NM_003240.4):c.903G>A (p.P301=) - LEFTY2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.982G>A r.(?) p.(Val328Ile) - benign g.226125260C>T g.225937560C>T LEFTY2(NM_003240.4):c.982G>A (p.V328I) - LEFTY2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1029G>A r.(?) p.(Leu343=) - likely benign g.226125213C>T g.225937513C>T - - LEFTY2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1035C>T r.(?) p.(Asn345=) - likely benign g.226125207G>A - LEFTY2(NM_003240.4):c.1035C>T (p.N345=) - LEFTY2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1071G>T r.(?) p.(Gly357=) - likely benign g.226125171C>A g.225937471C>A LEFTY2(NM_003240.4):c.1071G>T (p.G357=) - LEFTY2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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