Full data view for gene LZTR1

Information The variants shown are described using the NM_006767.3 transcript reference sequence.

436 entries on 5 pages. Showing entries 1 - 100.
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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     
./. _1_21_ c.-2497374_*478925dup r.? p.? Unknown - pathogenic (recessive) g.18839287_21830562dup - - - ARVCF_000005 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. _1_21_ c.-2447622_*112482del r.0? p.0? Unknown - pathogenic (recessive) g.18889039_21464119del - - - ARVCF_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. _1_21_ c.-2443098_*112482del r.0? p.0? Unknown - pathogenic (recessive) g.18893563_21464119del - - - ARVCF_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. _1_21_ c.-2313498_*112482del r.0? p.0? Unknown - pathogenic (recessive) g.19023163_21464119del - - - ARVCF_000004 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. _1_21_ c.(?_-103)_(*1689_?)del r.(?) p.? Unknown - pathogenic g.(?_21336558)_(21353326_?) - - - LZTR1_000056 - - - - Unknown - - - - - DNA SEQ-NG blood - SWNTS1 - - - - - - - - - - - 1 Beatrice Parfait
?/. 1 c.-16G>T r.-16g>u p.? Unknown - VUS g.21336645G>T g.20982356G>T - - LZTR1_000057 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Unknown - - - - - DNA, RNA SEQ-NG blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
-?/. - c.-11G>A r.(?) p.(=) Unknown - likely benign g.21336650G>A - LZTR1(NM_006767.4):c.-11G>A - AIFM3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.20dup r.(?) p.Gln10Alafs*24 Unknown ACMG VUS g.21336680dup g.20982391dup - - LZTR1_000105 not regarded causative for phenotype in patient - - - Germline - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
?/. - c.22G>T r.(?) p.(Gly8Trp) Unknown - VUS g.21336682G>T g.20982393G>T LZTR1(NM_006767.3):c.22G>T (p.G8W) - AIFM3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.26G>A r.(?) p.(Gly9Glu) Unknown - likely benign g.21336686G>A g.20982397G>A LZTR1(NM_006767.3):c.26G>A (p.(Gly9Glu)) - AIFM3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.27del r.(?) p.(Gln10Argfs*15) Unknown - pathogenic g.21336687del g.20982398del - - LZTR1_000058 G> tandem repeat PubMed: Piotrowski 2014, PubMed: Smith 2015 - - Unknown - - - - - DNA SEQ-NG blood - SWNTS1 - PubMed: Piotrowski 2014, PubMed: Smith 2015 G> tandem repeat - - - - - - - - 1 Beatrice Parfait
+/. 1 c.27del r.(?) p.(Gln10Argfs*15) Unknown - pathogenic g.21336687del g.20982398del - - LZTR1_000058 G> tandem repeat PubMed: Piotrowski 2014, PubMed: Smith 2015 - - Unknown - - - - - DNA SEQ-NG blood - SWNTS1 - PubMed: Piotrowski 2014, PubMed: Smith 2015 G> tandem repeat - - - - - - - - 1 Beatrice Parfait
+/. - c.27del r.(?) p.(Gln10Argfs*15) Unknown - pathogenic g.21336687del - LZTR1(NM_006767.4):c.27delG (p.Q10Rfs*15) - LZTR1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.27del r.(?) p.(Gln10ArgfsTer15) Unknown - VUS g.21336687del g.21336687del - - LZTR1_000058 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - F - Italy - - - - - 1 Alessandro De Luca
+/. - c.27del r.(?) p.(Gln10ArgfsTer15) Unknown - VUS g.21336687del g.21336687del - - LZTR1_000058 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - F - Italy - - - - - 1 Alessandro De Luca
+/. - c.27del r.(?) p.(Gln10ArgfsTer15) Unknown - VUS g.21336687del g.21336687del - - LZTR1_000058 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - F - - - - - - - 1 Alessandro De Luca
+/. - c.27del r.(?) p.(Gln10ArgfsTer15) Unknown - VUS g.21336687del g.21336687del - - LZTR1_000058 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - F - - - - - - - 1 Alessandro De Luca
+/. - c.27del r.(?) p.(Gln10ArgfsTer15) Unknown - VUS g.21336687del g.21336687del - - LZTR1_000058 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - M - - - - - - - 1 Alessandro De Luca
+/. - c.27del r.(?) p.(Gln10ArgfsTer15) Unknown - VUS g.21336687del g.21336687del - - LZTR1_000058 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - F - - - - - - - 1 Alessandro De Luca
?/. - c.59C>T r.(?) p.(Ala20Val) Unknown - VUS g.21336719C>T - LZTR1(NM_006767.4):c.59C>T (p.A20V) - AIFM3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.114+1G>A r.114_115ins56 p.Met39fs Unknown - pathogenic g.21336775G>A g.20982486G>A - - LZTR1_000059 Inactivation of the authentic 5'ss; use of a cryptic site in intron 1 with insertion of the first 56 nt Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Unknown - - - - - DNA, RNA SEQ-NG, SEQ blood - NF2 - - Inactivation of the authentic 5'ss; use of a cryptic site in intron 1 with insertion of the first 56 nt - - - - - - - - 1 Beatrice Parfait
+/. 1 c.154del r.(154del) p.(His52Ilefs*49) Unknown - pathogenic g.21336814del g.20982525del 154delC - LZTR1_000103 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-IT Blood tissue - SWNTS - - - F - Italy - 12y - - - 1 Marica Eoli
+/. 1 c.161G>A r.(161g>a) p.(Trp54*) Unknown - pathogenic g.21336821G>A g.20982532G>A - - LZTR1_000104 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-IT Blood tissue - SWNTS - - - F - Italy - 48y - - - 1 Marica Eoli
+/. 1 c.169C>T r.169c>u p.Arg57* Unknown - pathogenic g.21336829C>T g.20982540C>T - - LZTR1_000055 CpG dinucleotide ; Mosaic PubMed: Ahronowitz 2007 - - De novo - - - - - DNA, RNA SEQ-NG blood, tumour - NF2 - PubMed: Ahronowitz 2007 CpG dinucleotide ; Mosaic - - - - - - - - 1 Beatrice Parfait
+/. 1 c.169C>T r.169c>u p.Arg57* Unknown - pathogenic g.21336829C>T g.20982540C>T - - LZTR1_000055 CpG dinucleotide PubMed: Ahronowitz 2007 - - Unknown - - - - - DNA, RNA SEQ blood - NF2 - PubMed: Ahronowitz 2007 CpG dinucleotide - - - - - - - - 1 Beatrice Parfait
-/. - c.201-13C>T r.(=) p.(=) Unknown - benign g.21337303C>T g.20983014C>T LZTR1(NM_006767.4):c.201-13C>T - AIFM3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.201-8C>T r.(=) p.(=) Unknown - benign g.21337308C>T g.20983019C>T LZTR1(NM_006767.4):c.201-8C>T - AIFM3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.201-8C>T r.(=) p.(=) Unknown - benign g.21337308C>T - LZTR1(NM_006767.4):c.201-8C>T - AIFM3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.210G>A r.(?) p.(Lys70=) Unknown - benign g.21337325G>A g.20983036G>A LZTR1(NM_006767.3):c.210G>A (p.K70=), LZTR1(NM_006767.4):c.210G>A (p.K70=) - LZTR1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.210G>A r.(?) p.(Lys70=) Unknown - benign g.21337325G>A g.20983036G>A LZTR1(NM_006767.3):c.210G>A (p.K70=), LZTR1(NM_006767.4):c.210G>A (p.K70=) - LZTR1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.210G>A r.(?) p.(Lys70=) Unknown - benign g.21337325G>A g.20983036G>A LZTR1(NM_006767.3):c.210G>A (p.K70=), LZTR1(NM_006767.4):c.210G>A (p.K70=) - LZTR1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.212A>G r.(?) p.(His71Arg) Unknown - likely pathogenic g.21337327A>G g.20983038A>G - - LZTR1_000022 - PubMed: Paganini 2015, Journal: Paganini 2015 - - De novo ? - - - - DNA MCA, SEQ Blood - SWNTS1 - PubMed: Paganini 2015, Journal: Paganini 2015 - F - - - - - - - 1 Laura Papi
+/. - c.223dup r.(?) p.(Ala75GlyfsTer3) Unknown - pathogenic g.21337338dup g.20983049dup - - LZTR1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.225del r.(?) p.(Tyr76IlefsTer25) Unknown - VUS g.21337340del g.21337340del g.21337338del - LZTR1_000220 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - M - - - - - - - 1 Alessandro De Luca
+/. 2 c.240+1G>T r.115_240del p.Met39_Lys80del Unknown - pathogenic g.21337356G>T g.20983067G>T - - LZTR1_000053 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Rouleau 1993, PubMed: Twist 1994 - - Unknown - - - - - DNA, RNA SEQ blood - NF2 - PubMed: Rouleau 1993, PubMed: Twist 1994 - - - - - - - - - 1 Beatrice Parfait
+/. 2 c.241-9A>G r.240_241insttctgtag p.Val81fs Unknown - pathogenic g.21337347A>G g.20983058A>G - - LZTR1_000052 Mosaic ; Creation of a new 3'ss within intron 2, with insertion of 8 last nt of intron 2 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - - De novo - - - - - DNA, RNA SEQ-NG, SEQ blood, tumour - NF2 - - Mosaic ; Creation of a new 3'ss within intron 2, with insertion of 8 last nt of intron 2 - - - - - - - - 1 Beatrice Parfait
+/. 2 c.243T>G r.(?) p.(Tyr81*) Maternal (confirmed) - pathogenic g.21337358T>G g.20983069T>G - - LZTR1_000017 - PubMed: Paganini 2015, Journal: Paganini 2015 - - Germline ? - - - - DNA MCA, SEQ Blood - SWNTS1 - PubMed: Paganini 2015, Journal: Paganini 2015 - M no Italy white - - - - 1 Laura Papi
?/. - c.245T>A r.(?) p.(Val82Glu) Unknown - VUS g.21337360T>A g.20983071T>A LZTR1(NM_006767.4):c.245T>A (p.V82E) - AIFM3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.249dup r.(?) p.(Gly84TrpfsTer11) Unknown - VUS g.21337364dup g.21337364dup g.21337361dup - LZTR1_000221 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - F - - - - - - - 1 Alessandro De Luca
+?/. 3i c.263+5G>T r.[263_264ins[GTGAT;263+6_263+33],=] p.[Lys89Ter,=] Unknown - likely pathogenic g.21337383G>T g.20983094G>T - - LZTR1_000279 effect on RNA inclusion of intron sequences - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
+/. 2i c.264-13G>A r.263_264ins264–11_264–1 p.Lys86Cysfs*16 Unknown - pathogenic g.21340117G>A g.20985828G>A - - LZTR1_000054 Piotrowski 2014 for RNA ; Creation of a new 3'ss within intron 2, with insertion of 11 last nt of intron 2 PubMed: Piotrowski 2014 - - Unknown - - - - - DNA SEQ-NG blood - SWNTS1 - PubMed: Piotrowski 2014 Piotrowski 2014 for RNA ; Creation of a new 3'ss within intron 2, with insertion of 11 last nt of intron 2 - - - - - - - - 1 Beatrice Parfait
+/. 2i c.264-13G>A r.263_264ins264–11_264–1 p.Lys86Cysfs*16 Unknown - pathogenic g.21340117G>A g.20985828G>A - - LZTR1_000054 Piotrowski 2014 for RNA; Creation of a new 3'ss within intron 2, with insertion of 11 last nt of intron 2 PubMed: Piotrowski 2014 - - Unknown - - - - - DNA SEQ-NG blood - SWNTS1 - PubMed: Piotrowski 2014 Piotrowski 2014 for RNA; Creation of a new 3'ss within intron 2, with insertion of 11 last nt of intron 2 - - - - - - - - 1 Beatrice Parfait
+?/. - c.264-13G>A r.(=) p.(=) Unknown - likely pathogenic g.21340117G>A g.20985828G>A LZTR1(NM_006767.4):c.264-13G>A - LZTR1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.264-13G>A r.(=) p.(=) Unknown - likely pathogenic g.21340117G>A - LZTR1(NM_006767.4):c.264-13G>A - LZTR1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.264-13G>A r.(=) p.(=) Unknown ACMG likely pathogenic (dominant) g.21340117G>A - - - LZTR1_000054 ACMG: PS4, PM2_SUP, PP3 PMID: 24362817, 24362817, 31438995, 31128261 and 29409008 - rs587777176 Germline - - - - - DNA SEQ-NG-I Blood WES SWNTS2 182998 - - M ? Germany - - - - - 1 Andreas Laner
?/. - c.271A>G r.(?) p.(Met91Val) Unknown - likely pathogenic (dominant) g.21340137A>G - - - LZTR1_000156 - - - - De novo - - - - - DNA ? - - NS - - - - - - - - - - - 1 Dilek Uludag Alkaya
+?/. - c.272T>C r.(?) p.(Met91Thr) Unknown - likely pathogenic g.21340138T>C - - - AIFM3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.273G>A r.(?) p.(Met91Ile) Unknown - VUS g.21340139G>A g.20985850G>A - - AIFM3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320G>C r.(?) p.(Arg107Thr) Unknown - VUS g.21340186G>C g.20985897G>C LZTR1(NM_006767.3):c.320G>C (p.R107T, p.(Arg107Thr)) - LZTR1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320G>C r.(?) p.(Arg107Thr) Unknown - VUS g.21340186G>C g.20985897G>C LZTR1(NM_006767.3):c.320G>C (p.R107T, p.(Arg107Thr)) - LZTR1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320G>C r.(?) p.(Arg107Thr) Unknown - VUS g.21340186G>C - LZTR1(NM_006767.3):c.320G>C (p.R107T, p.(Arg107Thr)) - LZTR1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.320G>C r.[264_320del,264_400del,=] p.[Lys89_Arg107del,Lys89GlyfsTer11,Arg107Thr] Unknown - likely pathogenic g.21340186G>C g.20985897G>C - - LZTR1_000061 multiple effects on RNA - - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
+?/. - c.320+2T>G r.spl? p.? Unknown - likely pathogenic g.21340188T>G g.20985899T>G - - AIFM3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320+5G>T r.spl? p.? Unknown - VUS g.21340191G>T - LZTR1(NM_006767.4):c.320+5G>T - AIFM3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.320+12C>T r.(=) p.(=) Unknown - benign g.21340198C>T g.20985909C>T LZTR1(NM_006767.4):c.320+12C>T - AIFM3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.320+12C>T r.(=) p.(=) Unknown - benign g.21340198C>T g.20985909C>T LZTR1(NM_006767.4):c.320+12C>T - AIFM3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.321-14_321-3del r.spl? p.? Unknown - benign g.21341779_21341790del g.20987490_20987501del LZTR1(NM_006767.4):c.321-14_321-3delTGTGCCCACCCC - LZTR1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.344C>T r.(?) p.(Pro115Leu) Unknown - VUS g.21341816C>T - LZTR1(NM_006767.4):c.344C>T (p.(Pro115Leu)) - LZTR1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.344C>T r.(?) p.(Pro115Leu) Unknown - VUS g.21341816C>T - LZTR1(NM_006767.4):c.344C>T (p.(Pro115Leu)) - LZTR1_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.347C>G r.(?) p.(Ala116Gly) Unknown - VUS g.21341819C>G - - - LZTR1_000281 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.352del r.(?) p.(Arg118Valfs*29) Unknown ACMG likely pathogenic g.21341824del g.20987535del - - LZTR1_000149 ACMG grading: PVS1,PM2 schwannomatosis at age 66y - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. 4 c.352dup r.(?) p.(Arg118Profs*28) Paternal (confirmed) - pathogenic g.21341824dup g.20987535dup - - LZTR1_000018 - PubMed: Paganini 2015, Journal: Paganini 2015 - - Germline ? - - - - DNA SEQ, SEQ-NG-I Blood - SWNTS1 - PubMed: Paganini 2015, Journal: Paganini 2015 - F no Italy white - - - - 1 Laura Papi
+?/. - c.352dup r.(?) p.(Arg118ProfsTer28) Unknown - likely pathogenic g.21341824dup g.20987535dup - - LZTR1_000018 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+?/. 4 c.353G>A r.(?) p.(Arg118His) Unknown - likely pathogenic g.21341825G>A g.20987536G>A - - LZTR1_000051 CpG dinucleotide - - - Unknown - - - - - DNA SEQ-NG blood, tumour - SWNTS1 - - CpG dinucleotide - - - - - - - - 1 Beatrice Parfait
+?/. 4 c.353G>A r.(?) p.(Arg118His) Unknown - likely pathogenic g.21341825G>A g.20987536G>A - - LZTR1_000051 CpG dinucleotide - - - Unknown - - - - - DNA SEQ-NG blood - SWNTS1 - - CpG dinucleotide - - - - - - - - 1 Beatrice Parfait
+?/. 4 c.353G>A r.(?) p.(Arg118His) Unknown - likely pathogenic g.21341825G>A g.20987536G>A - - LZTR1_000051 CpG dinucleotide - - - Unknown - - - - - DNA SEQ-NG blood - SWNTS1 - - CpG dinucleotide - - - - - - - - 1 Beatrice Parfait
+?/. 4 c.353G>A r.(?) p.(Arg118His) Unknown - likely pathogenic g.21341825G>A g.20987536G>A - - LZTR1_000051 CpG dinucleotide - - - Unknown - - - - - DNA SEQ-NG blood, tumour - SWNTS1 - - CpG dinucleotide - - - - - - - - 1 Beatrice Parfait
+?/. 4 c.353G>A r.(?) p.(Arg118His) Unknown - likely pathogenic g.21341825G>A g.20987536G>A - - LZTR1_000051 CpG dinucleotide - - - Unknown - - - - - DNA SEQ-NG blood - SWNTS1 - - CpG dinucleotide - - - - - - - - 1 Beatrice Parfait
?/. - c.353G>A r.(?) p.(Arg118His) Unknown - VUS g.21341825G>A g.20987536G>A LZTR1(NM_006767.4):c.353G>A (p.R118H) - LZTR1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.357C>A r.(?) p.(Tyr119Ter) Unknown - VUS g.21341829C>A g.21341829C>A - - LZTR1_000222 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - F - - - - - - - 1 Alessandro De Luca
?/. - c.357C>G r.(?) p.(Tyr119*) Unknown - VUS g.21341829C>G - LZTR1(NM_006767.3):c.357C>G (p.(Tyr119*)) - LZTR1_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.359A>T r.(?) p.(His120Leu) Unknown - likely pathogenic g.21341831A>T - - - LZTR1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370G>C r.(?) p.(Val124Leu) Both (homozygous) ACMG VUS g.21341842G>C - - - LZTR1_000202 ACMG: PM2_Sup - - - Germline ? - - - - DNA SEQ-NG-H - - NS2 211995 - - F yes - - - - - - 1 Andreas Laner
?/. - c.372C>T r.(?) p.(=) Unknown - VUS g.21341844C>T - - - LZTR1_000157 - - - - Germline - - - - - DNA ? - - NS - - - - - - - - - - - 1 Dilek Uludag Alkaya
?/. - c.372C>T r.(?) p.(=) Unknown - VUS g.21341844C>T - LZTR1(NM_006767.4):c.372C>T (p.(Val124=)) - LZTR1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.373G>A r.(?) p.(Val125Ile) Unknown - VUS g.21341845G>A g.21341845G>A - - LZTR1_000223 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - M - - - - - - - 1 Alessandro De Luca
+?/. 4 c.373_375del r.(?) p.(Val125del) Unknown - likely pathogenic g.21341845_21341847del g.20987556_20987558del 373_375delGTC - LZTR1_000011 - PubMed: Paganini 2015, Journal: Paganini 2015 - - Unknown ? - - - - DNA MCA, SEQ Bloodl - SWNTS1 - PubMed: Paganini 2015, Journal: Paganini 2015 - F no Italy white - - - - 1 Laura Papi
+?/. - c.373_375del r.(?) p.(Val125del) Paternal (confirmed) - VUS g.21341845_21341847del g.21341845_21341847del g.21341842GTC[1] - LZTR1_000011 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - M - Italy - - - - - 1 Alessandro De Luca
+?/. - c.373_375del r.(?) p.(Val125del) Unknown - VUS g.21341845_21341847del g.21341845_21341847del g.21341842GTC[1] - LZTR1_000011 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - F - - - - - - - 1 Alessandro De Luca
+/. - c.400+1G>C r.spl p.? Unknown - VUS g.21341873G>C g.21341873G>C - - LZTR1_000224 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - M - - - - - - - 1 Alessandro De Luca
?/. - c.400+4A>G r.spl? p.? Unknown - VUS g.21341876A>G g.20987587A>G LZTR1(NM_006767.3):c.400+4A>G (p.?) - LZTR1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.400+10C>T r.(=) p.(=) Unknown - likely benign g.21341882C>T g.20987593C>T LZTR1(NM_006767.4):c.400+10C>T - LZTR1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.400+10C>T r.(=) p.(=) Unknown - likely benign g.21341882C>T - LZTR1(NM_006767.4):c.400+10C>T - LZTR1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.401-3C>A r.spl? p.? Unknown - likely benign g.21342296C>A - LZTR1(NM_006767.4):c.401-3C>A - LZTR1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.401-2A>G r.spl p.? Unknown - VUS g.21342297A>G g.21342297A>G - - LZTR1_000225 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - M - - - - - - - 1 Alessandro De Luca
+/. - c.401-1G>C r.spl p.? Unknown - VUS g.21342298G>C g.21342298G>C - - LZTR1_000226 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - F - - - - - - - 1 Alessandro De Luca
+?/. - c.403G>T r.(?) p.(Gly135Cys) Unknown - likely pathogenic g.21342301G>T g.20988012G>T - - LZTR1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.410C>A r.(?) p.(Thr137Asn) Unknown - VUS g.21342308C>A - LZTR1(NM_006767.4):c.410C>A (p.T137N) - LZTR1_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.418A>G r.(?) p.(Ile140Val) Unknown - VUS g.21342316A>G - - - LZTR1_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.428del r.(?) p.(Asn143Ilefs*4) Unknown - pathogenic g.21342326del g.20988037del - - LZTR1_000023 - - - - Unknown - - - - - DNA SEQ-NG blood - SWNTS1 - - - - - - - - - - - 1 Beatrice Parfait
+/. 5_7 c.448-?_599+?del r.448_599del p.Tyr150Glyfs*2 Unknown - pathogenic g.21342346_21343919del g.20988057_20989630del - - LZTR1_000024 Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. - - - Unknown - - - - - DNA, RNA SEQ-NG, SEQ blood - NF2 - - - - - - - - - - - 1 Beatrice Parfait
-?/. - c.453C>T r.(?) p.(=) Unknown - likely benign g.21342351C>T - LZTR1(NM_006767.4):c.453C>T (p.D151=) - LZTR1_000282 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.485G>A r.(?) p.(Trp162*) Unknown - pathogenic g.21342383G>A - - - LZTR1_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488C>T r.(?) p.(Thr163Met) Unknown - VUS g.21342386C>T - LZTR1(NM_006767.4):c.488C>T (p.(Thr163Met)) - LZTR1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.490G>A r.(?) p.(Glu164Lys) Unknown - VUS g.21342388G>A - LZTR1(NM_006767.4):c.490G>A (p.E164K) - LZTR1_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.494G>A r.(?) p.(Trp165Ter) Unknown - pathogenic g.21342392G>A g.20988103G>A - - LZTR1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.509G>A r.(?) p.(Arg170Gln) Unknown - VUS g.21342407G>A g.20988118G>A LZTR1(NM_006767.3):c.509G>A (p.R170Q) - LZTR1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.509G>A r.(?) p.(Arg170Gln) Unknown - VUS g.21342407G>A - - - LZTR1_000064 - - - - Germline - - - - - DNA ? - - NS - - - - - - - - - - - 1 Dilek Uludag Alkaya
+/. - c.509G>A r.(?) p.(Arg170Gln) Unknown - VUS g.21342407G>A g.21342407G>A - - LZTR1_000064 - - - - Germline - - - - - DNA SEQ-NG - - cafe-au-lait spots, multiple - - - M - - - - - - - 1 Alessandro De Luca
-?/. - c.509+44G>T r.(=) p.(=) Unknown - likely benign g.21342451G>T - LZTR1(NM_006767.4):c.509+44G>T - LZTR1_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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