Full data view for gene HOXB13

Information The variants shown are described using the NM_006361.5 transcript reference sequence.

60 entries on 1 page. Showing entries 1 - 60.
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Effect     

Exon     

AscendingDNA change (cDNA)     

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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

Methylation     

Template     

Technique     

Tissue     

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Disease     

ID_report     

Reference     

Remarks     

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?/. - c.16T>A r.(?) p.(Tyr6Asn) Parent #1 - VUS g.46805940A>T g.48728578A>T - - HOXB13_000040 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12364 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12364 controls - - Japan - - - - - 1 Yukihide Momozawa
+/. - c.50G>T r.(?) p.(Gly17Val) Parent #1 - pathogenic g.46805906C>A g.48728544C>A - - HOXB13_000039 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 5/12364 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12364 controls - - Japan - - - - - 5 Yukihide Momozawa
?/. - c.114G>A r.(=) p.(=) Parent #1 - VUS g.46805842C>T g.48728480C>T - - HOXB13_000038 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 8/12365 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - - - - 8 Yukihide Momozawa
-/. - c.122C>T r.(?) p.(Thr41Met) Parent #1 - benign g.46805834G>A g.48728472G>A - - HOXB13_000037 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs199799743 Germline - 263/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 263 Yukihide Momozawa
?/. - c.150C>G r.(=) p.(=) Parent #1 - VUS g.46805806G>C g.48728444G>C - - HOXB13_000036 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 2/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 2 Yukihide Momozawa
?/. - c.188G>A r.(?) p.(Cys63Tyr) Unknown - VUS g.46805768C>T g.48728406C>T HOXB13(NM_006361.5):c.188G>A (p.(Cys63Tyr)), HOXB13(NM_006361.6):c.188G>A (p.C63Y) - HOXB13_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.188G>A r.(?) p.(Cys63Tyr) Unknown - VUS g.46805768C>T - HOXB13(NM_006361.5):c.188G>A (p.(Cys63Tyr)), HOXB13(NM_006361.6):c.188G>A (p.C63Y) - HOXB13_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.198C>T r.(=) p.(=) Parent #1 - VUS g.46805758G>A g.48728396G>A - - HOXB13_000035 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
?/. - c.201T>A r.(=) p.(=) Parent #1 - VUS g.46805755A>T g.48728393A>T - - HOXB13_000034 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
?/. - c.218C>T r.(?) p.(Thr73Met) Parent #1 - VUS g.46805738G>A g.48728376G>A - - HOXB13_000033 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs763353615 Germline - 9/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 9 Yukihide Momozawa
?/. - c.232G>A r.(?) p.(Val78Met) Parent #1 - VUS g.46805724C>T g.48728362C>T - - HOXB13_000032 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 2/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 2 Yukihide Momozawa
?/. - c.245A>C r.(?) p.(Tyr82Ser) Parent #1 - VUS g.46805711T>G g.48728349T>G - - HOXB13_000031 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
+/. - c.251G>A r.(?) p.(Gly84Glu) Unknown - pathogenic g.46805705C>T g.48728343C>T HOXB13(NM_006361.5):c.251G>A (p.G84E, p.(Gly84Glu)), HOXB13(NM_006361.6):c.251G>A (p.G84E) - HOXB13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.251G>A r.(?) p.(Gly84Glu) Unknown - pathogenic g.46805705C>T g.48728343C>T HOXB13(NM_006361.5):c.251G>A (p.G84E, p.(Gly84Glu)), HOXB13(NM_006361.6):c.251G>A (p.G84E) - HOXB13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.251G>A r.(?) p.(Gly84Glu) Unknown - likely pathogenic g.46805705C>T g.48728343C>T HOXB13(NM_006361.5):c.251G>A (p.G84E, p.(Gly84Glu)), HOXB13(NM_006361.6):c.251G>A (p.G84E) - HOXB13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.251G>A r.(?) p.(Gly84Glu) Unknown - likely pathogenic g.46805705C>T g.48728343C>T HOXB13(NM_006361.5):c.251G>A (p.G84E, p.(Gly84Glu)), HOXB13(NM_006361.6):c.251G>A (p.G84E) - HOXB13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.251G>A r.(?) p.(Gly84Glu) Unknown ACMG likely pathogenic g.46805705C>T g.48728343C>T - - HOXB13_000002 - - - rs138213197 Germline - - - - - DNA SEQ-NG-S - - - - - - F - - - - - - - 1 Andreas Laner
+?/. - c.251G>A r.(?) p.(Gly84Glu) Unknown - likely pathogenic g.46805705C>T g.48728343C>T HOXB13(NM_006361.5):c.251G>A (p.G84E, p.(Gly84Glu)), HOXB13(NM_006361.6):c.251G>A (p.G84E) - HOXB13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.251G>A r.(?) p.(Gly84Glu) Unknown ACMG likely pathogenic g.46805705C>T g.48728343C>T - - HOXB13_000002 PMID: 23064873, 22841674, 26517352, 23518396, 2402687 - - rs138213197 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
+/. - c.251G>A r.(?) p.(Gly84Glu) Unknown - pathogenic g.46805705C>T g.48728343C>T p.Gly84Glu - HOXB13_000002 secondary finding PubMed: Schuermans 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Schuermans 2022 secondary finding analysis 329 adult patients suffering from undiagnosed rare disease - - Belgium - - - - - 1 Johan den Dunnen
+/. - c.251G>A r.(?) p.(Gly84Glu) Unknown - pathogenic g.46805705C>T g.48728343C>T p.Gly84Glu - HOXB13_000002 secondary finding PubMed: Schuermans 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Schuermans 2022 secondary finding analysis 329 adult patients suffering from undiagnosed rare disease - - Belgium - - - - - 1 Johan den Dunnen
?/. - c.261C>T r.(=) p.(=) Parent #1 - VUS g.46805695G>A g.48728333G>A - - HOXB13_000030 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 2/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 2 Yukihide Momozawa
?/. - c.319G>C r.(?) p.(Ala107Pro) Unknown - VUS g.46805637C>G - HOXB13(NM_006361.6):c.319G>C (p.A107P) - HOXB13_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.330C>A r.(?) p.(Pro110=) Unknown - benign g.46805626G>T g.48728264G>T HOXB13(NM_006361.6):c.330C>A (p.P110=) - HOXB13_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.333G>A r.(=) p.(=) Parent #1 - VUS g.46805623C>T g.48728261C>T - - HOXB13_000029 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs757423683 Germline - 2/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 2 Yukihide Momozawa
?/. - c.340C>A r.(?) p.(Pro114Thr) Parent #1 - VUS g.46805616G>T g.48728254G>T - - HOXB13_000028 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs751698154 Germline - 2/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 2 Yukihide Momozawa
?/. - c.350G>A r.(?) p.(Gly117Glu) Parent #1 - VUS g.46805606C>T g.48728244C>T - - HOXB13_000027 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs760111060 Germline - 7/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 7 Yukihide Momozawa
?/. - c.351G>A r.(=) p.(=) Parent #1 - VUS g.46805605C>T g.48728243C>T - - HOXB13_000026 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 7/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 7 Yukihide Momozawa
?/. - c.365G>A r.(?) p.(Ser122Asn) Parent #1 - VUS g.46805591C>T g.48728229C>T - - HOXB13_000025 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
-/. - c.366C>T r.(=) p.(=) Parent #1 - benign g.46805590G>A g.48728228G>A - - HOXB13_000024 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs8556 Germline - 959/12365 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - - - - 959 Yukihide Momozawa
-/. - c.366C>T r.(=) p.(=) Both (homozygous) - benign g.46805590G>A g.48728228G>A - - HOXB13_000024 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs8556 Germline - 28/12365 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - - - - 28 Yukihide Momozawa
-/. - c.366C>T r.(?) p.(Ser122=) Unknown - benign g.46805590G>A - - - HOXB13_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.380T>G r.(?) p.(Phe127Cys) Parent #1 - VUS g.46805576A>C g.48728214A>C - - HOXB13_000023 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
+/. - c.395G>A r.(?) p.(Gly132Glu) Parent #1 - pathogenic g.46805561C>T g.48728199C>T - - HOXB13_000022 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 15/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 15 Yukihide Momozawa
?/. - c.430C>A r.(?) p.(Leu144Met) Parent #1 - VUS g.46805526G>T g.48728164G>T - - HOXB13_000021 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
?/. - c.465T>G r.(=) p.(=) Parent #1 - VUS g.46805491A>C g.48728129A>C - - HOXB13_000020 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
-/. - c.489G>C r.(=) p.(=) Parent #1 - benign g.46805467C>G g.48728105C>G - - HOXB13_000019 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs199561305 Germline - 113/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 113 Yukihide Momozawa
?/. - c.490T>C r.(=) p.(=) Parent #1 - VUS g.46805466A>G g.48728104A>G - - HOXB13_000018 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs555788633 Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
?/. - c.509A>G r.(?) p.(Gln170Arg) Parent #1 - VUS g.46805447T>C g.48728085T>C - - HOXB13_000017 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
-/. - c.513T>C r.(=) p.(=) Parent #1 - benign g.46805443A>G g.48728081A>G - - HOXB13_000016 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs9900627 Germline - 3400/12362 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12362 controls - - Japan - - - - - 3400 Yukihide Momozawa
-/. - c.513T>C r.(=) p.(=) Both (homozygous) - benign g.46805443A>G g.48728081A>G - - HOXB13_000016 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs9900627 Germline - 334/12362 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12362 controls - - Japan - - - - - 334 Yukihide Momozawa
?/. - c.555G>A r.(=) p.(=) Parent #1 - VUS g.46805401C>T g.48728039C>T - - HOXB13_000015 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
?/. - c.578C>T r.(?) p.(Pro193Leu) Parent #1 - VUS g.46805378G>A g.48728016G>A - - HOXB13_000014 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
?/. - c.585G>A r.(?) p.(Trp195*) Parent #1 - VUS g.46805371C>T g.48728009C>T - - HOXB13_000013 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs867793282 Germline - 2/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 2 Yukihide Momozawa
?/. 1 c.589G>A r.(589G>A) p.(Ala197Thr) Unknown ACMG VUS g.46805367C>T g.48728005C>T - - HOXB13_000046 - - - - Germline - - - - - DNA SEQ-NG - - cancer, prostate - - - M - - - - - - - 1 Albain Chansavang
?/. - c.590C>T r.(?) p.(Ala197Val) Parent #1 - VUS g.46805366G>A g.48728004G>A - - HOXB13_000012 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12366 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12366 controls - - Japan - - - - - 1 Yukihide Momozawa
-?/. - c.602-9G>A r.(=) p.(=) Unknown - likely benign g.46804414C>T - HOXB13(NM_006361.5):c.602-9G>A - HOXB13_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.634G>A r.(?) p.(Ala212Thr) Parent #1 - benign g.46804373C>T g.48727011C>T - - HOXB13_000011 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs145059285 Germline - 166/12364 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12364 controls - - Japan - - - - - 166 Yukihide Momozawa
-/. - c.634G>A r.(?) p.(Ala212Thr) Both (homozygous) - benign g.46804373C>T g.48727011C>T - - HOXB13_000011 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs145059285 Germline - 5/12364 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12364 controls - - Japan - - - - - 5 Yukihide Momozawa
?/. - c.635C>T r.(?) p.(Ala212Val) Parent #1 - VUS g.46804372G>A g.48727010G>A - - HOXB13_000010 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 2/12364 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12364 controls - - Japan - - - - - 2 Yukihide Momozawa
?/. - c.649C>T r.(?) p.(Arg217Cys) Unknown - VUS g.46804358G>A - - - HOXB13_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.678G>A r.(=) p.(=) Parent #1 - VUS g.46804329C>T g.48726967C>T - - HOXB13_000009 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs200362093 Germline - 1/12364 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12364 controls - - Japan - - - - - 1 Yukihide Momozawa
?/. - c.685C>T r.(?) p.(Arg229Trp) Unknown - VUS g.46804322G>A - HOXB13(NM_006361.5):c.685C>T (p.R229W, p.(Arg229Trp)) - HOXB13_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.685C>T r.(?) p.(Arg229Trp) Unknown - VUS g.46804322G>A - HOXB13(NM_006361.5):c.685C>T (p.R229W, p.(Arg229Trp)) - HOXB13_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.760_763dup r.(?) p.(Leu255Glnfs*68) Parent #1 - VUS g.46804246_46804249dup g.48726884_48726887dup g.46804243_46804244insGGCT - HOXB13_000004 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12365 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - - - - 1 Yukihide Momozawa
+/. - c.786C>G r.(?) p.(Ile262Met) Parent #1 - pathogenic g.46804221G>C g.48726859G>C - - HOXB13_000008 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12365 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - - - - 1 Yukihide Momozawa
?/. - c.798C>T r.(=) p.(=) Parent #1 - VUS g.46804209G>A g.48726847G>A - - HOXB13_000007 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - - Germline - 1/12365 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - - - - 1 Yukihide Momozawa
?/. - c.826G>A r.(?) p.(Ala276Thr) Parent #1 - VUS g.46804181C>T g.48726819C>T - - HOXB13_000006 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs191886930 Germline - 3/12363 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12363 controls - - Japan - - - - - 3 Yukihide Momozawa
?/. - c.832G>T r.(?) p.(Val278Leu) Parent #1 - VUS g.46804175C>A g.48726813C>A - - HOXB13_000005 - PubMed: Momozawa 2019, Journal: Momozawa 2019 - rs200997384 Germline - 29/12365 controls - - - DNA SEQ - - Healthy/Control control PubMed: Momozawa 2019, Journal: Momozawa 2019 analysis 12365 controls - - Japan - - - - - 29 Yukihide Momozawa
?/. - c.853del r.(?) p.(*285Lysext*96) Unknown - VUS g.46804155del - HOXB13(NM_006361.5):c.853delT (p.*285Kfs*97) - HOXB13_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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