Full data view for gene LFNG

Information The variants shown are described using the NM_001040167.1 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-6690G>C r.(?) p.(=) Unknown - likely benign g.2552806G>C - LFNG(NM_001166355.1):c.63G>C (p.(Trp21Cys)) - LFNG_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6661G>A r.(?) p.(=) Unknown - VUS g.2552835G>A - LFNG(NM_001166355.1):c.92G>A (p.(Trp31Ter)) - LFNG_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6597_-6596insCGGA r.(?) p.(=) Unknown - VUS g.2552899_2552900insCGGA - LFNG(NM_001166355.2):c.156_157insCGGA (p.(Trp53Argfs*5)) - LFNG_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6594_-6587dup r.(?) p.(=) Unknown - VUS g.2552902_2552909dup - LFNG(NM_001166355.1):c.159_166dupGATGGATG (p.E56Gfs*144), LFNG(NM_001166355.2):c.159_166dup (p.(Glu56GlyfsTer144)), LFNG(NM_001166355.2):c.159_166d... - LFNG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6594_-6587dup r.(?) p.(=) Unknown - VUS g.2552902_2552909dup - LFNG(NM_001166355.1):c.159_166dupGATGGATG (p.E56Gfs*144), LFNG(NM_001166355.2):c.159_166dup (p.(Glu56GlyfsTer144)), LFNG(NM_001166355.2):c.159_166d... - LFNG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6594_-6587dup r.(?) p.(=) Unknown - VUS g.2552902_2552909dup - LFNG(NM_001166355.1):c.159_166dupGATGGATG (p.E56Gfs*144), LFNG(NM_001166355.2):c.159_166dup (p.(Glu56GlyfsTer144)), LFNG(NM_001166355.2):c.159_166d... - LFNG_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6590_-6587del r.(?) p.(=) Unknown - benign g.2552906_2552909del g.2513272_2513275del LFNG(NM_001166355.1):c.139_142del (p.(Asp55SerfsTer141)), LFNG(NM_001166355.1):c.163_166delGATG (p.D55Sfs*141) - LFNG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6590_-6587del r.(?) p.(=) Unknown - likely benign g.2552906_2552909del g.2513272_2513275del LFNG(NM_001166355.1):c.139_142del (p.(Asp55SerfsTer141)), LFNG(NM_001166355.1):c.163_166delGATG (p.D55Sfs*141) - LFNG_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6590_-6587dup r.(?) p.(=) Unknown - likely benign g.2552906_2552909dup g.2513272_2513275dup LFNG(NM_001166355.1):c.139_142dup (p.(Glu56Glyfs*2)), LFNG(NM_001166355.1):c.163_166dupGATG (p.E56Gfs*2), LFNG(NM_001166355.2):c.163_166dupGATG (p...) - LFNG_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6590_-6587dup r.(?) p.(=) Unknown - likely benign g.2552906_2552909dup g.2513272_2513275dup LFNG(NM_001166355.1):c.139_142dup (p.(Glu56Glyfs*2)), LFNG(NM_001166355.1):c.163_166dupGATG (p.E56Gfs*2), LFNG(NM_001166355.2):c.163_166dupGATG (p...) - LFNG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6590_-6587dup r.(?) p.(=) Unknown - benign g.2552906_2552909dup g.2513272_2513275dup LFNG(NM_001166355.1):c.139_142dup (p.(Glu56Glyfs*2)), LFNG(NM_001166355.1):c.163_166dupGATG (p.E56Gfs*2), LFNG(NM_001166355.2):c.163_166dupGATG (p...) - LFNG_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1282G>T r.(?) p.(=) Unknown - likely benign g.2558214G>T g.2518580G>T LFNG(NM_002304.2):c.27G>T (p.A9=) - LFNG_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348C>T r.(?) p.(Phe116=) Unknown - likely benign g.2559843C>T - LFNG(NM_001040167.2):c.348C>T (p.F116=) - LFNG_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.372del r.(?) p.(Lys124Asnfs*21) Maternal (confirmed) - pathogenic (recessive) g.2559867del g.2520233del 372delG - LFNG_000031 - PubMed: Otomo 2019 - - Germline - - - - - DNA SEQ - - SCDO patient PubMed: Otomo 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - 1 Johan den Dunnen
-?/. - c.482-4A>G r.spl? p.? Unknown - likely benign g.2564849A>G g.2525215A>G LFNG(NM_001040167.1):c.482-4A>G (p.?) - LFNG_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.521G>A r.(521g>a) p.(Arg174His) Paternal (confirmed) - likely pathogenic (!) g.2564892G>A g.2525258G>A - - LFNG_000034 hypomorphic variant, pathogenic when in trans with c.766G>A - - - Germline - - parker_wengryn - - DNA ? - - SCDO3 - - 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Costa Rica - - - - - 1 Parker Cole Wengryn
+?/. - c.521G>T r.(?) p.(Arg174Leu) Paternal (confirmed) ACMG VUS g.2564892G>T g.2525258G>T - - LFNG_000025 - - - - Germline - - - - - DNA SEQ-NG amniotic fluid - SCDO3 - - - F no Italy - - - - - 1 Edoardo Errichiello
+/. - c.564C>A r.(?) p.(Phe188Leu) Both (homozygous) - pathogenic (recessive) g.2564935C>A g.2525301C>A - - LFNG_000030 - PubMed: Sparrow 2006 - - Germline - - - - - DNA SEQ - - SCDO patient PubMed: Sparrow 2006 2-generation family, 1 affected, unaffected heterozygous carrier parents - - Lebanon - - - - - 1 Johan den Dunnen
-?/. - c.573C>T r.(?) p.(Ser191=) Unknown - likely benign g.2564944C>T - LFNG(NM_001040167.2):c.573C>T (p.S191=) - LFNG_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.601G>A r.(?) p.(Asp201Asn) Paternal (confirmed) - pathogenic (recessive) g.2565067G>A g.2525433G>A - - LFNG_000032 - PubMed: Otomo 2019 - - Germline - - - - - DNA SEQ - - SCDO patient PubMed: Otomo 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - 1 Johan den Dunnen
-?/. - c.661C>T r.(?) p.(Arg221Trp) Unknown - likely benign g.2565127C>T g.2525493C>T LFNG(NM_001040167.2):c.661C>T (p.R221W) - LFNG_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667G>A r.(?) p.(Val223Ile) Unknown - likely benign g.2565133G>A g.2525499G>A LFNG(NM_001040167.1):c.667G>A (p.(Val223Ile)) - LFNG_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.673G>A r.(?) p.(Val225Ile) Unknown - likely benign g.2565139G>A - LFNG(NM_001040167.1):c.673G>A (p.(Val225Ile)) - LFNG_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.735+9C>T r.(=) p.(=) Unknown - likely benign g.2565210C>T - LFNG(NM_001040167.2):c.735+9C>T - LFNG_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.737G>A r.(?) p.(Arg246His) Unknown - VUS g.2565320G>A - LFNG(NM_001040167.2):c.737G>A (p.(Arg246His)) - LFNG_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.761C>T r.(?) p.(Thr254Met) Both (homozygous) - likely pathogenic (recessive) g.2565344C>T g.2525710C>T NM_001040167.1:c.761C>T:p.(Thr254Met) - LFNG_000019 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 15DG0700 PubMed: Maddirevula 2018 family F yes - Arab - - - - 1 LOVD
+/. 5 c.766G>A r.(766g>a) p.(Gly256Ser) Maternal (confirmed) - likely pathogenic (recessive) g.2565349G>A g.2525715G>A - - LFNG_000035 amorphic variant, loss of glycosyltransferase activity - - - Germline - - parker_wengryn - - RNA ? - - SCDO3 - - 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Costa Rica - - - - - 1 Parker Cole Wengryn
+/. - c.822-5C>T r.spl p.? Both (homozygous) ACMG VUS g.2565873C>T g.2526239C>T - - LFNG_000026 - - - - Germline yes - - - - DNA SEQ-NG amniotic fluid - SCDO3 - - - F yes Morocco - - - - - 1 Edoardo Errichiello
+?/. - c.842C>T r.(?) p.(Thr281Met) Unknown - likely pathogenic g.2565898C>T - LFNG(NM_001040167.1):c.842C>T (p.(Thr281Met)) - LFNG_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.863dup r.(?) p.(Asp289*) Maternal (confirmed) ACMG pathogenic (maternal) g.2565919dup g.2526285dup - - LFNG_000027 - - - - Germline yes - - - - DNA SEQ-NG blood - SCDO3 - - - F no Algeria - 00y01m - - - 1 Edoardo Errichiello
+?/. - c.890T>G r.(?) p.(Val297Gly) Maternal (confirmed) ACMG VUS g.2565946T>G g.2526312T>G - - LFNG_000028 - - - - Germline - - - - - DNA SEQ-NG amniotic fluid - SCDO3 - - - F no Italy - - - - - 1 Edoardo Errichiello
-?/. - c.1021C>T r.(?) p.(Arg341Trp) Unknown - likely benign g.2566503C>T g.2526869C>T LFNG(NM_001040167.1):c.1021C>T (p.(Arg341Trp)), LFNG(NM_001040167.2):c.1021C>T (p.R341W) - LFNG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1021C>T r.(?) p.(Arg341Trp) Unknown - likely benign g.2566503C>T - LFNG(NM_001040167.1):c.1021C>T (p.(Arg341Trp)), LFNG(NM_001040167.2):c.1021C>T (p.R341W) - LFNG_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1036G>A r.(?) p.(Val346Met) Unknown - likely benign g.2566518G>A - LFNG(NM_001040167.1):c.1036G>A (p.(Val346Met)) - LFNG_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1063G>A r.(?) p.(Asp355Asn) Paternal (confirmed) ACMG VUS g.2566545G>A g.2526911G>A - - LFNG_000029 - - - - Germline yes - - - - DNA SEQ-NG blood - SCDO3 - - - F no Algeria - 00y01m - - - 1 Edoardo Errichiello
?/. - c.1078C>T r.(?) p.(Arg360Cys) Unknown - VUS g.2566784C>T - LFNG(NM_001040167.2):c.1078C>T (p.(Arg360Cys)) - MIR4648_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1101C>T r.(?) p.(Tyr367=) Unknown - likely benign g.2566807C>T g.2527173C>T LFNG(NM_001040167.2):c.1101C>T (p.Y367=) - LFNG_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1112C>T r.(?) p.(Pro371Leu) Unknown - likely benign g.2566818C>T - LFNG(NM_001040167.1):c.1112C>T (p.(Pro371Leu)) - LFNG_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1670del r.(?) p.(=) Unknown - VUS g.2568516del g.2528882del LFNG(NM_001040168.1):c.1080del (p.?) - LFNG_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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