Unique variants in the NIPAL4 gene

Information The variants shown are described using the NM_001099287.1 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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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     
-/. 2 - c.-10A>G r.(?) p.(=) - benign g.156887133A>G g.157460125A>G NIPAL4(NM_001099287.1):c.-10A>G - NIPAL4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.283C>T r.(?) p.(Leu95Phe) - likely benign g.156890161C>T - NIPAL4(NM_001099287.1):c.283C>T (p.L95F) - CYFIP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.398G>T r.(?) p.(Gly133Val) - VUS g.156890276G>T g.157463268G>T - - CYFIP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 3 - c.527C>A r.(?) p.(Ala176Asp) ACMG likely pathogenic, pathogenic g.156895736C>A g.157468728C>A NIPAL4(NM_001099287.1):c.527C>A (p.A176D) - NIPAL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, Anju Shukla
+/. 1 - c.555C>A r.(?) p.(Tyr185Ter) - pathogenic g.156895764C>A g.157468756C>A NIPAL4(NM_001099287.1):c.555C>A (p.Y185*) - NIPAL4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 - c.637A>G r.(?) p.(Arg213Gly) - benign g.156898690A>G g.157471682A>G NIPAL4(NM_001099287.1):c.637A>G (p.R213G) - NIPAL4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.838C>T r.(?) p.(Arg280Cys) - VUS g.156899405C>T - NIPAL4(NM_001099287.1):c.838C>T (p.R280C) - CYFIP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.889G>A r.(?) p.(Gly297Arg) - pathogenic g.156899456G>A g.157472448G>A - - CYFIP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.1302T>C r.(?) p.(Val434=) - benign g.156899869T>C g.157472861T>C NIPAL4(NM_001099287.1):c.1302T>C (p.V434=) - ADAM19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
-/. 1 - c.1358C>T r.(?) p.(Ser453Leu) - benign g.156899925C>T g.157472917C>T - - ADAM19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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