All variants in the NDUFAF6 gene

Information The variants shown are described using the NM_152416.3 transcript reference sequence.

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

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     
-?/. - c.222A>G r.(?) p.(Leu74=) - likely benign g.96044247A>G g.95032019A>G NDUFAF6(NM_152416.3):c.222A>G (p.L74=) - NDUFAF6_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.239C>T r.(?) p.(Pro80Leu) - VUS g.96044264C>T g.95032036C>T - - NDUFAF6_000001 - - - - Unknown - - - 0 - IMGAG
+?/. - c.250C>T r.(?) p.(Arg84*) ACMG pathogenic g.96044275C>T - - - NDUFAF6_000011 - - - - Germline - - - - - Anju Shukla
?/. - c.301A>G r.(?) p.(Lys101Glu) - VUS g.96047685A>G g.95035457A>G NDUFAF6(NM_152416.3):c.301A>G (p.K101E) - NDUFAF6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.420+15dup r.(=) p.(=) - benign g.96047819dup g.95035591dup NDUFAF6(NM_152416.3):c.420+15_420+16insA, NDUFAF6(NM_152416.3):c.420+16delTinsAT - NDUFAF6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.421-13_421-12del r.(=) p.(=) - benign g.96053785_96053786del g.95041557_95041558del NDUFAF6(NM_152416.3):c.421-13_421-12delCT - NDUFAF6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+?/. - c.620T>C r.(?) p.(Ile207Thr) ACMG likely pathogenic g.96059261T>C - - - NDUFAF6_000012 - - - - Germline - - - - - Anju Shukla
-?/. - c.642C>T r.(?) p.(Val214=) - likely benign g.96059283C>T g.95047055C>T NDUFAF6(NM_152416.3):c.642C>T (p.V214=) - NDUFAF6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.663A>G r.(?) p.(Pro221=) - likely benign g.96059304A>G g.95047076A>G NDUFAF6(NM_001330582.1):c.387A>G (p.P129=), NDUFAF6(NM_152416.3):c.663A>G (p.P221=) - NDUFAF6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.663A>G r.(?) p.(Pro221=) - likely benign g.96059304A>G g.95047076A>G NDUFAF6(NM_001330582.1):c.387A>G (p.P129=), NDUFAF6(NM_152416.3):c.663A>G (p.P221=) - NDUFAF6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.674_681del r.(?) p.(Ser225LysfsTer26) - likely pathogenic g.96059315_96059322del - NDUFAF6(NM_001354525.1):c.218_225delGCAGAAGA (p.S73Kfs*26) - NDUFAF6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.738T>C r.(?) p.(Phe246=) - likely benign g.96060708T>C g.95048480T>C NDUFAF6(NM_001330582.1):c.462T>C (p.F154=) - NDUFAF6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.*16T>C r.(=) p.(=) - benign g.96070181T>C g.95057953T>C NDUFAF6(NM_152416.3):c.*16T>C - NDUFAF6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
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