Full data view for gene NEBL

Information The variants shown are described using the NM_006393.2 transcript reference sequence.

143 entries on 2 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     
-/. - c.-275278_-275277del r.(?) p.(=) Unknown - benign g.21461423_21461424del g.21172494_21172495del NEBL(NM_213569.2):c.70-6_70-5delTT - C10orf113_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-275278_-275277dup r.(?) p.(=) Unknown - benign g.21461423_21461424dup g.21172494_21172495dup NEBL(NM_213569.2):c.70-6_70-5dupTT, NEBL(NM_213569.2):c.70-7_70-6dupTT - C10orf113_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-275278_-275277dup r.(?) p.(=) Unknown - benign g.21461423_21461424dup g.21172494_21172495dup NEBL(NM_213569.2):c.70-6_70-5dupTT, NEBL(NM_213569.2):c.70-7_70-6dupTT - C10orf113_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-275277del r.(?) p.(=) Unknown - benign g.21461424del g.21172495del NEBL(NM_213569.2):c.70-5delT - C10orf113_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-275277dup r.(?) p.(=) Unknown - benign g.21461424dup g.21172495dup NEBL(NM_213569.2):c.70-5dupT - C10orf113_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-275277dup r.(?) p.(=) Unknown - benign g.21461424dup g.21172495dup NEBL(NM_213569.2):c.70-5dupT - C10orf113_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-275277dup r.(?) p.(=) Unknown - benign g.21461424dup g.21172495dup NEBL(NM_213569.2):c.70-5dupT - C10orf113_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-228682A>G r.(?) p.(=) Unknown - benign g.21414816T>C g.21125887T>C - - C10orf113_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-122925A>G r.(?) p.(=) Unknown - VUS g.21309059T>C - NEBL(NM_213569.2):c.236A>G (p.E79G) - C10orf113_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-64471G>A r.(?) p.(=) Unknown - VUS g.21250605C>T g.20961676C>T NEBL(NM_213569.2):c.353G>A (p.S118N) - C10orf113_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-64467T>C r.(?) p.(=) Unknown - benign g.21250601A>G g.20961672A>G - - C10orf113_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.14T>C r.(?) p.(Val5Ala) Unknown - likely benign g.21186121A>G - NEBL(NM_006393.2):c.14T>C (p.V5A) - C10orf113_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27A>C r.(?) p.(Ile9=) Unknown - likely benign g.21186108T>G - NEBL(NM_006393.2):c.27A>C (p.I9=) - C10orf113_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.39T>C r.(?) p.(Thr13=) Unknown - likely benign g.21186096A>G - NEBL(NM_006393.2):c.39T>C (p.T13=) - C10orf113_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.58G>A r.(?) p.(Glu20Lys) Unknown - VUS g.21186077C>T g.20897148C>T NEBL(NM_006393.2):c.58G>A (p.E20K) - NEBL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.67_72del r.(?) p.(Asn23_Glu24del) Unknown - VUS g.21186066_21186071del - NEBL(NM_006393.2):c.67_72delAATGAA (p.N23_E24del) - C10orf113_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.82-4A>G r.spl? p.? Unknown - likely benign g.21185962T>C g.20897033T>C NEBL(NM_006393.2):c.82-4A>G - C10orf113_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109T>C r.(?) p.(Leu37=) Unknown - likely benign g.21185931A>G g.20897002A>G NEBL(NM_006393.2):c.109T>C (p.L37=) - NEBL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109T>C r.(?) p.(Leu37=) Unknown - likely benign g.21185931A>G g.20897002A>G NEBL(NM_006393.2):c.109T>C (p.L37=) - NEBL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.116T>C r.(?) p.(Met39Thr) Unknown - VUS g.21185924A>G g.20896995A>G - - NEBL_000004 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 197 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - - - - - 1 Ellika Sahlin
-/. - c.154-11C>A r.(=) p.(=) Unknown - benign g.21178889G>T g.20889960G>T NEBL(NM_006393.2):c.154-11C>A - NEBL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.180G>C r.(?) p.(Lys60Asn) Unknown - likely benign g.21178852C>G g.20889923C>G NEBL(NM_006393.2):c.180G>C (p.K60N) - NEBL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.180G>C r.(?) p.(Lys60Asn) Parent #1 - VUS g.21178852C>G g.20889923C>G - - NEBL_000027 conflicting interpretations of pathogenicity; 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41277374 Germline - 5/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.182C>T r.(?) p.(Ser61Phe) Unknown - likely benign g.21178850G>A g.20889921G>A NEBL(NM_006393.2):c.182C>T (p.S61F) - C10orf113_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.191A>G r.(?) p.(Lys64Arg) Unknown - benign g.21178841T>C g.20889912T>C NEBL(NM_006393.2):c.191A>G (p.K64R) - NEBL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.214C>A r.(?) p.(Pro72Thr) Unknown - VUS g.21178818G>T g.20889889G>T NEBL(NM_006393.2):c.214C>A (p.P72T) - C10orf113_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.259-8del r.(=) p.(=) Unknown - likely benign g.21177152del g.20888223del NEBL(NM_006393.2):c.259-8delT - NEBL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.259-8dup r.(=) p.(=) Unknown - benign g.21177152dup g.20888223dup NEBL(NM_006393.2):c.259-8dupT - C10orf113_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.259-8dup r.(=) p.(=) Unknown - benign g.21177152dup - NEBL(NM_006393.2):c.259-8dupT - C10orf113_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267C>G r.(?) p.(Tyr89Ter) Unknown - likely benign g.21177128G>C g.20888199G>C NEBL(NM_006393.2):c.267C>G (p.Y89*), NEBL(NM_006393.3):c.267C>G (p.Y89*) - C10orf113_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267C>G r.(?) p.(Tyr89Ter) Unknown - likely benign g.21177128G>C g.20888199G>C NEBL(NM_006393.2):c.267C>G (p.Y89*), NEBL(NM_006393.3):c.267C>G (p.Y89*) - C10orf113_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.267C>G r.(?) p.(Tyr89Ter) Unknown - likely benign g.21177128G>C g.20888199G>C NEBL(NM_006393.2):c.267C>G (p.Y89*), NEBL(NM_006393.3):c.267C>G (p.Y89*) - C10orf113_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.298T>C r.(?) p.(Ser100Pro) Unknown - VUS g.21177097A>G g.20888168A>G - - NEBL_000033 - PubMed: Malakootian 2022 - - Germline no - - - - DNA SEQ, SEQ-NG - WES ATFB FamPatIII5 PubMed: Malakootian 2022 2-generation family, 4 affected (2F, 2M) M - Iran - - - - - 4 Johan den Dunnen
-?/. - c.311G>A r.(?) p.(Arg104Gln) Unknown - likely benign g.21177084C>T g.20888155C>T NEBL(NM_006393.2):c.311G>A (p.R104Q) - C10orf113_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.311G>A r.(?) p.(Arg104Gln) Unknown - likely benign g.21177084C>T - NEBL(NM_006393.2):c.311G>A (p.R104Q) - C10orf113_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383A>G r.(?) p.(Gln128Arg) Unknown - VUS g.21169820T>C - NEBL(NM_006393.3):c.383A>G (p.Q128R) - C10orf113_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.480+3A>G r.spl? p.? Unknown - likely benign g.21169720T>C g.20880791T>C NEBL(NM_006393.2):c.480+3A>G - NEBL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.480+3A>G r.spl? p.? Unknown - likely benign g.21169720T>C g.20880791T>C NEBL(NM_006393.2):c.480+3A>G - NEBL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.480+11G>T r.(=) p.(=) Unknown - likely benign g.21169712C>A g.20880783C>A NEBL(NM_006393.2):c.480+11G>T - C10orf113_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.489T>C r.(?) p.(Tyr163=) Unknown - likely benign g.21158762A>G g.20869833A>G NEBL(NM_006393.2):c.489T>C (p.Y163=) - C10orf113_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.523G>A r.(?) p.(Ala175Thr) Unknown - likely benign g.21158728C>T g.20869799C>T NEBL(NM_006393.2):c.523G>A (p.A175T) - NEBL_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.535C>T r.(?) p.(Arg179Ter) Unknown - VUS g.21158716G>A g.20869787G>A NEBL(NM_006393.2):c.535C>T (p.R179*) - C10orf113_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582+9T>C r.(=) p.(=) Unknown - likely benign g.21158660A>G g.20869731A>G NEBL(NM_006393.2):c.582+9T>C - NEBL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.599G>C r.(?) p.(Gly200Ala) Unknown - VUS g.21157678C>G g.20868749C>G - - NEBL_000032 - - - - Unknown - - beatrice.alessandrini - - DNA SEQ-NG - - CMD - - - - - - - - - - - 1 Beatrice Alessandrini
+/. - c.604G>A r.(?) p.(Gly202Arg) Unknown - pathogenic g.21157673C>T g.20868744C>T - - NEBL_000003 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 256 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - - - - - 1 Ellika Sahlin
-?/. - c.604G>A r.(?) p.(Gly202Arg) Unknown - likely benign g.21157673C>T g.20868744C>T NEBL(NM_006393.2):c.604G>A (p.G202R) - NEBL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.604G>A r.(?) p.(Gly202Arg) Unknown - likely benign g.21157673C>T - NEBL(NM_006393.2):c.604G>A (p.G202R) - NEBL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607A>T r.(?) p.(Ile203Leu) Unknown - likely benign g.21157670T>A - NEBL(NM_006393.2):c.607A>T (p.I203L) - C10orf113_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>T r.(?) p.(Pro208=) Unknown - likely benign g.21157653G>A - NEBL(NM_006393.2):c.624C>T (p.P208=), NEBL(NM_006393.3):c.624C>T (p.P208=) - C10orf113_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.624C>T r.(?) p.(Pro208=) Unknown - likely benign g.21157653G>A - NEBL(NM_006393.2):c.624C>T (p.P208=), NEBL(NM_006393.3):c.624C>T (p.P208=) - C10orf113_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.656C>A r.(?) p.(Ala219Asp) Unknown - benign g.21157621G>T g.20868692G>T NEBL(NM_006393.2):c.656C>A (p.A219D) - NEBL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.656C>A r.(?) p.(Ala219Asp) Parent #1 - benign g.21157621G>T g.20868692G>T - - NEBL_000020 72 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2296610 Germline - 72/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 72 Mohammed Faruq
-/. - c.656C>A r.(?) p.(Ala219Asp) Both (homozygous) - benign g.21157621G>T g.20868692G>T - - NEBL_000020 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2296610 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.731del r.(?) p.(His244LeufsTer24) Unknown - VUS g.21148709del g.20859780del NEBL(NM_006393.2):c.731delA (p.H244Lfs*24) - C10orf113_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.731del r.(?) p.(His244LeufsTer24) Unknown - VUS g.21148709del - - - C10orf113_000015 - - - rs1307717293 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.792G>A r.(?) p.(Ala264=) Unknown - likely benign g.21148648C>T g.20859719C>T NEBL(NM_006393.2):c.792G>A (p.A264=) - C10orf113_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.793A>C r.(?) p.(Ser265Arg) Unknown - VUS g.21148647T>G - NEBL(NM_006393.2):c.793A>C (p.S265R) - C10orf113_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798+9T>C r.(=) p.(=) Unknown - likely benign g.21148633A>G - NEBL(NM_006393.2):c.798+9T>C - C10orf113_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.858dup r.(?) p.(Leu287ValfsTer19) Unknown - VUS g.21147214dup g.20858285dup NEBL(NM_006393.2):c.858dupG (p.L287Vfs*19) - C10orf113_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.878T>G r.(?) p.(Leu293Trp) Unknown - VUS g.21147194A>C g.20858265A>C NEBL(NM_006393.2):c.878T>G (p.L293W) - C10orf113_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.882del r.(?) p.(Ala295ProfsTer43) Unknown - VUS g.21147192del g.20858263del NEBL(NM_006393.2):c.882delA (p.A295Pfs*43) - NEBL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.904-4T>G r.spl? p.? Unknown - likely benign g.21141582A>C g.20852653A>C NEBL(NM_006393.2):c.904-4T>G - NEBL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.904C>T r.(?) p.(Arg302Ter) Unknown - VUS g.21141578G>A - NEBL(NM_006393.2):c.904C>T (p.R302*) - C10orf113_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972T>C r.(?) p.(His324=) Unknown - likely benign g.21141510A>G g.20852581A>G NEBL(NM_006393.2):c.972T>C (p.H324=) - C10orf113_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.986G>T r.(?) p.(Gly329Val) Unknown - VUS g.21141496C>A g.20852567C>A NEBL(NM_006393.2):c.986G>T (p.G329V) - NEBL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.986G>T r.(?) p.(Gly329Val) Unknown - likely benign g.21141496C>A g.20852567C>A NEBL(NM_006393.2):c.986G>T (p.G329V) - NEBL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.993C>T r.(?) p.(Ala331=) Unknown - likely benign g.21141489G>A g.20852560G>A NEBL(NM_006393.2):c.993C>T (p.A331=) - C10orf113_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1008+4C>T r.spl? p.? Unknown - benign g.21141470G>A g.20852541G>A NEBL(NM_006393.2):c.1008+4C>T - C10orf113_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1008+5A>G r.spl? p.? Unknown - benign g.21141469T>C - NEBL(NM_006393.3):c.1008+5A>G - C10orf113_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1008+8C>G r.(=) p.(=) Unknown - likely benign g.21141466G>C g.20852537G>C NEBL(NM_006393.2):c.1008+8C>G - C10orf113_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1108C>A r.(?) p.(Gln370Lys) Unknown - VUS g.21139332G>T g.20850403G>T NEBL(NM_006393.2):c.1108C>A (p.Q370K) - C10orf113_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1113T>C r.(?) p.(Ser371=) Unknown - likely benign g.21139327A>G g.20850398A>G NEBL(NM_006393.2):c.1113T>C (p.S371=), NEBL(NM_006393.3):c.1113T>C (p.(Ser371=)) - C10orf113_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1113T>C r.(?) p.(Ser371=) Unknown - likely benign g.21139327A>G - NEBL(NM_006393.2):c.1113T>C (p.S371=), NEBL(NM_006393.3):c.1113T>C (p.(Ser371=)) - C10orf113_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1157G>A r.(?) p.(Arg386Lys) Unknown - likely benign g.21134257C>T g.20845328C>T - - C10orf113_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1225G>T r.(?) p.(Glu409Ter) Unknown - VUS g.21134189C>A g.20845260C>A NEBL(NM_006393.2):c.1225G>T (p.E409*) - C10orf113_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1232A>C r.(?) p.(Glu411Ala) Unknown - VUS g.21129774T>G - NEBL(NM_006393.2):c.1232A>C (p.E411A) - C10orf113_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1307G>A r.(?) p.(Arg436Lys) Unknown - VUS g.21129699C>T g.20840770C>T NEBL(NM_006393.2):c.1307G>A (p.R436K) - NEBL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1315C>T r.(?) p.(Arg439Ter) Unknown - VUS g.21129691G>A g.20840762G>A NEBL(NM_006393.2):c.1315C>T (p.R439*) - C10orf113_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1439T>C r.(?) p.(Ile480Thr) Unknown - likely benign g.21124452A>G g.20835523A>G NEBL(NM_006393.2):c.1439T>C (p.I480T) - NEBL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1450-9T>G r.(=) p.(=) Unknown - benign g.21120521A>C g.20831592A>C NEBL(NM_006393.2):c.1450-9T>G - NEBL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1450-9T>G r.(=) p.(=) Unknown - likely benign g.21120521A>C g.20831592A>C NEBL(NM_006393.2):c.1450-9T>G - NEBL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1471G>A r.(?) p.(Glu491Lys) Unknown - VUS g.21120491C>T g.20831562C>T NEBL(NM_006393.2):c.1471G>A (p.E491K) - C10orf113_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1479A>T r.(?) p.(Glu493Asp) Unknown - VUS g.21120483T>A - NEBL(NM_006393.2):c.1479A>T (p.E493D) - C10orf113_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1493G>A r.(?) p.(Gly498Glu) Unknown - likely pathogenic g.21120469C>T g.20831540C>T - - C10orf113_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1560+6_1560+8dup r.(=) p.(=) Unknown - likely benign g.21120394_21120396dup g.20831465_20831467dup NEBL(NM_006393.2):c.1560+6_1560+8dupACA - C10orf113_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1560+7C>G r.(=) p.(=) Unknown - likely benign g.21120395G>C - NEBL(NM_006393.2):c.1560+7C>G - C10orf113_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1560+10C>A r.(=) p.(=) Unknown - likely benign g.21120392G>T - NEBL(NM_006393.2):c.1560+10C>A - C10orf113_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1584A>C r.(?) p.(Glu528Asp) Unknown - VUS g.21120212T>G g.20831283T>G - - NEBL_000034 variant definitively linked to disease Fusco 2042, submitted - - Germline - - - - - DNA SEQ-NG blood - CM Fam234Pat251 Fusco 2042, submitted - F - Italy white - - - - 1 Carmela Fusco
?/. - c.1604G>A r.(?) p.(Gly535Glu) Unknown - VUS g.21120192C>T g.20831263C>T - - C10orf113_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1671+9T>C r.(=) p.(=) Unknown - benign g.21120116A>G - NEBL(NM_006393.3):c.1671+9T>C - C10orf113_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1775C>A r.(?) p.(Ala592Glu) Unknown - likely benign g.21117460G>T g.20828531G>T NEBL(NM_006393.2):c.1775C>A (p.A592E) - NEBL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1775C>A r.(?) p.(Ala592Glu) Unknown - likely benign g.21117460G>T - NEBL(NM_006393.2):c.1775C>A (p.A592E) - NEBL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1775C>T r.(?) p.(Ala592Val) Unknown - likely benign g.21117460G>A g.20828531G>A NEBL(NM_006393.2):c.1775C>T (p.A592V) - NEBL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1775C>T r.(?) p.(Ala592Val) Unknown - likely benign g.21117460G>A g.20828531G>A NEBL(NM_006393.2):c.1775C>T (p.A592V) - NEBL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1776+15C>G r.(=) p.(=) Unknown - likely benign g.21117444G>C - NEBL(NM_006393.2):c.1776+15C>G - C10orf113_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1837C>T r.(?) p.(Arg613Ter) Unknown - VUS g.21115408G>A g.20826479G>A NEBL(NM_006393.2):c.1837C>T (p.R613*) - C10orf113_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1878C>T r.(?) p.(Tyr626=) Unknown - likely benign g.21112221G>A - NEBL(NM_006393.2):c.1878C>T (p.Y626=) - C10orf113_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1962T>A r.(?) p.(Asn654Lys) Unknown - benign g.21112137A>T - NEBL(NM_006393.3):c.1962T>A (p.N654K) - C10orf113_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1963-10T>G r.(=) p.(=) Unknown - likely benign g.21108455A>C - NEBL(NM_006393.2):c.1963-10T>G - C10orf113_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1998G>A r.(?) p.(Pro666=) Unknown - likely benign g.21108410C>T g.20819481C>T NEBL(NM_006393.2):c.1998G>A (p.P666=) - C10orf113_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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