All variants in the GNL3L gene

Information The variants shown are described using the NM_019067.5 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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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.177_179del r.(?) p.(Lys62del) - VUS g.54566663_54566665del g.54540230_54540232del GNL3L(NM_001184819.1):c.177_179del (p.(Lys61del)) - GNL3L_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 4 c.177_179del r.(?) p.(Lys62del) - VUS g.54566663_54566665del g.54540230_54540232del K62del - GNL3L_000007 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.223C>T r.(?) p.(Arg75Trp) - likely benign g.54567739C>T g.54541306C>T GNL3L(NM_001184819.2):c.223C>T (p.R75W) - GNL3L_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.253A>G r.(?) p.(Ile85Val) - likely benign g.54567769A>G g.54541336A>G GNL3L(NM_001184819.2):c.253A>G (p.I85V) - GNL3L_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.360G>A r.(?) p.(Thr120=) - likely benign g.54569441G>A g.54543008G>A GNL3L(NM_001184819.2):c.360G>A (p.T120=) - GNL3L_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.572G>A r.(?) p.(Arg191Gln) - likely benign g.54570701G>A g.54544268G>A GNL3L(NM_001184819.1):c.572G>A (p.(Arg191Gln)) - GNL3L_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.630+144del r.(=) p.(=) - VUS g.54570903del g.54544470del - - GNL3L_000006 - - - - Germline - - - - - Yu Sun
?/. - c.630+160dup r.(=) p.(=) - VUS g.54570919dup g.54544486dup - - GNL3L_000003 - - - - Germline - - - - - Yu Sun
?/. - c.748C>T r.(?) p.(Arg250Cys) - VUS g.54574779C>T g.54548346C>T GNL3L(NM_001184819.2):c.748C>T (p.R250C) - GNL3L_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 12 c.1106G>A r.(?) p.(Arg369His) - VUS g.54578332G>A g.54551899G>A R369H - GNL3L_000015 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. 12 c.1145A>C r.(?) p.(Glu382Ala) - VUS g.54578371A>C g.54551938A>C E382A - GNL3L_000016 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1151C>T r.(?) p.(Ala384Val) - likely benign g.54578377C>T g.54551944C>T GNL3L(NM_001184819.2):c.1151C>T (p.A384V) - GNL3L_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 13 c.1255A>G r.(?) p.(Lys419Glu) - VUS g.54578798A>G g.54552365A>G K419E - GNL3L_000017 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1501G>T r.(?) p.(Ala501Ser) - likely benign g.54584923G>T g.54558490G>T GNL3L(NM_001184819.1):c.1501G>T (p.(Ala501Ser)) - GNL3L_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. 15 c.1501G>T r.(?) p.(Ala501Ser) - VUS g.54584923G>T g.54558490G>T A501S - GNL3L_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. 15 c.1563C>T r.(?) p.(=) - VUS g.54584985C>T g.54558552C>T D521D - GNL3L_000018 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1624G>A r.(?) p.(Ala542Thr) - likely benign g.54585046G>A - GNL3L(NM_001184819.2):c.1624G>A (p.A542T) - GNL3L_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1694C>T r.(?) p.(Ser565Phe) - VUS g.54586980C>T - GNL3L(NM_001184819.2):c.1694C>T (p.S565F) - GNL3L_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*469del r.(=) p.(=) - VUS g.54587504del g.54561071del - - GNL3L_000004 - - - - Germline - - - - - Yu Sun
?/. - c.*489_*491del r.(=) p.(=) - VUS g.54587524_54587526del g.54561091_54561093del - - GNL3L_000005 - - - - Germline - - - - - Yu Sun
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