Full data view for gene PDGFB

Information The variants shown are described using the NM_002608.2 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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 c.3G>A r.(?) p.0? Unknown - pathogenic (dominant) g.39639966C>T g.39243961C>T - - PDGFB_000005 not in >12,000 control chromosomes PubMed: Keller 2013, OMIM:var0007 - - Germline yes - - 0 - DNA SEQ - - IBGC5 - PubMed: Keller 2013 4-generation family, 3 affecteds (3F), 1 carrier with unknown phenotype F no - - - 0 - - 4 Johan den Dunnen
+/. 1 c.26T>G r.(?) p.(Leu9Arg) Unknown - pathogenic (dominant) g.39639943A>C g.39243938A>C - - PDGFB_000007 not in >12,000 control chromosomes PubMed: Keller 2013 - - Germline yes - - 0 - DNA SEQ - - IBGC5 - PubMed: Keller 2013 2-generation family, 4 affecteds (2F, 2M) - no - - - 0 - - 4 Johan den Dunnen
-?/. - c.35G>T r.(?) p.(Cys12Phe) Unknown - likely benign g.39639934C>A g.39243929C>A PDGFB(NM_002608.3):c.35G>T (p.C12F) - PDGFB_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.64-6C>A r.(=) p.(=) Unknown - VUS g.39631885G>T - - - PDGFB_000031 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - IBGC5 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
?/. - c.64-5G>A r.spl? p.? Unknown - VUS g.39631884C>T - PDGFB(NM_002608.3):c.64-5G>A - PDGFB_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.64-3C>G r.64_160del p.Gly22Argfs*9 Unknown - likely pathogenic (dominant) g.39631882G>C g.39235877G>C - - PDGFB_000008 - - - - Germline yes - - 0 - DNA, RNA RT-PCR, SEQ Blood - IBGC5 - - - - - France - - 0 - - 1 Gael Nicolas
+/. - c.79G>T r.(?) p.(Glu27Ter) Unknown - pathogenic g.39631864C>A g.39235859C>A PDGFB(NM_002608.3):c.79G>T (p.E27*) - PDGFB_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.129_130insGT r.(?) p.(Leu44ValfsTer20) Unknown - pathogenic g.39631814_39631815insCA - PDGFB(NM_002608.3):c.129_130insGT (p.L44Vfs*20) - PDGFB_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.160+15C>A r.(=) p.(=) Unknown - benign g.39631768G>T g.39235763G>T PDGFB(NM_002608.3):c.160+15C>A - PDGFB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.160+15C>A r.(=) p.(=) Unknown - benign g.39631768G>T g.39235763G>T PDGFB(NM_002608.3):c.160+15C>A - PDGFB_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.160+20C>G r.(=) p.(=) Unknown - likely benign g.39631763G>C g.39235758G>C PDGFB(NM_002608.3):c.160+20C>G - PDGFB_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.174C>T r.(?) p.(Ala58=) Unknown - likely benign g.39629516G>A g.39233511G>A PDGFB(NM_002608.3):c.174C>T (p.A58=) - PDGFB_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.251-6T>G r.(=) p.(=) Unknown - likely benign g.39627838A>C - PDGFB(NM_002608.3):c.251-6T>G - PDGFB_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.270G>A r.(?) p.(Glu90=) Unknown - likely benign g.39627813C>T - PDGFB(NM_002608.3):c.270G>A (p.E90=) - PDGFB_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273G>A r.(?) p.(Pro91=) Unknown - likely benign g.39627810C>T g.39231805C>T PDGFB(NM_002608.3):c.273G>A (p.P91=) - PDGFB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273G>A r.(?) p.(Pro91=) Unknown - likely benign g.39627810C>T g.39231805C>T PDGFB(NM_002608.3):c.273G>A (p.P91=) - PDGFB_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.283G>A r.(?) p.(Ala95Thr) Unknown - VUS g.39627800C>T g.39231795C>T - - PDGFB_000009 - - - - Unknown - - - 0 - DNA SEQ Blood - IBGC5 - - - - - France - - 0 - - 1 Gael Nicolas
-?/. - c.313G>A r.(?) p.(Glu105Lys) Unknown - likely benign g.39627770C>T g.39231765C>T PDGFB(NM_002608.3):c.313G>A (p.E105K) - PDGFB_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.328C>G r.(?) p.(Leu110Val) Unknown - VUS g.39627755G>C g.39231750G>C - - PDGFB_000010 - - - - Unknown - - - 0 - DNA SEQ Blood - IBGC5 - - - - - France - - 0 - - 1 Gael Nicolas
+/. 4 c.356T>C r.(?) p.(Leu119Pro) Unknown - pathogenic (dominant) g.39627727A>G g.39231722A>G 356C>T - PDGFB_000003 exome sequencing 2 afecteds family PubMed: Keller 2013, OMIM:var0004 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - IBGC5 - PubMed: Keller 2013 3-generation family, affected father and twin sons M no Brazil - - 0 - - 3 Johan den Dunnen
?/. - c.415G>A r.(?) p.(Val139Met) Unknown - VUS g.39627668C>T g.39231663C>T PDGFB(NM_002608.3):c.415G>A (p.V139M) - PDGFB_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.429C>T r.(?) p.(Pro143=) Unknown - likely benign g.39627654G>A g.39231649G>A PDGFB(NM_002608.3):c.429C>T (p.P143=) - PDGFB_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.433C>T r.(?) p.(Gln145*) Unknown - pathogenic (dominant) g.39627650G>A g.39231645G>A - - PDGFB_000002 genome sequencing 2 affected/1 unaffected family member PubMed: Keller 2013, OMIM:var0003 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - IBGC5 - PubMed: Kostic 2011, PubMed: Keller 2013 3-generation family, 6 affecteds (2F, 4M) - no Serbia - - 0 - - 6 Johan den Dunnen
+?/. 4 c.439C>T r.439c>u p.Gln147* Unknown - likely pathogenic (dominant) g.39627644G>A g.39231639G>A - - PDGFB_000001 - PubMed: Nicolas 2014 - - De novo - - - 0 - DNA, RNA RT-PCR, SEQ - - IBGC-4 - PubMed: Nicolas 2014 - - - France - - 0 - - 1 Gael Nicolas
+/. 4 c.445C>T r.(?) p.(Arg149*) Unknown - pathogenic (dominant) g.39627638G>A g.39231633G>A - - PDGFB_000006 not in >12,000 control chromosomes PubMed: Keller 2013, OMIM:var0006 - - Germline yes - - 0 - DNA SEQ - - IBGC5 - PubMed: Keller 2013 3-generation family, 5 affecteds (3F, 2M) - no - - - 0 - - 5 Johan den Dunnen
-/. - c.453C>G r.(?) p.(Val151=) Unknown - benign g.39627630G>C g.39231625G>C PDGFB(NM_002608.3):c.453C>G (p.V151=) - PDGFB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.453C>G r.(?) p.(Val151=) Unknown - benign g.39627630G>C g.39231625G>C PDGFB(NM_002608.3):c.453C>G (p.V151=) - PDGFB_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.456+5G>A r.spl? p.? Unknown - VUS g.39627622C>T g.39231617C>T PDGFB(NM_002608.3):c.456+5G>A - PDGFB_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.469G>A r.(?) p.(Glu157Lys) Unknown - likely benign g.39626221C>T g.39230216C>T PDGFB(NM_002608.3):c.469G>A (p.E157K) - PDGFB_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.588C>G r.(?) p.(Ser196=) Unknown - likely benign g.39626102G>C g.39230097G>C PDGFB(NM_002608.3):c.588C>G (p.S196=) - PDGFB_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607_616dup r.(?) p.(Thr206Asnfs*29) Unknown - VUS g.39621843_39621852dup - PDGFB(NM_002608.3):c.607_616dupACGCCCCAAA (p.T206Nfs*29) - PDGFB_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.635C>T r.(?) p.(Thr212Met) Unknown - benign g.39621819G>A g.39225814G>A PDGFB(NM_002608.3):c.635C>T (p.T212M) - PDGFB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.635C>T r.(?) p.(Thr212Met) Unknown - benign g.39621819G>A g.39225814G>A PDGFB(NM_002608.3):c.635C>T (p.T212M) - PDGFB_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.657C>A r.(?) p.(Pro219=) Unknown - likely benign g.39621797G>T g.39225792G>T PDGFB(NM_002608.3):c.657C>A (p.P219=) - PDGFB_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.670C>T r.(?) p.(Arg224Trp) Unknown - VUS g.39621784G>A g.39225779G>A PDGFB(NM_002608.3):c.670C>T (p.R224W) - PDGFB_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.700G>A r.(?) p.(Ala234Thr) Unknown - likely benign g.39621754C>T g.39225749C>T PDGFB(NM_002608.3):c.700G>A (p.A234T) - PDGFB_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 6 c.726G>C r.(?) p.(*242Tyrext*89) Unknown - pathogenic (dominant) g.39621728C>G g.39225723C>G - - PDGFB_000004 not in >12,000 chromosomes PubMed: Keller 2013, OMIM:var0005 - - Germline yes - - 0 - DNA SEQ - - IBGC5 - PubMed: Keller 2013 4-generation family, 9 affecteds (3F, 6M) - no - - - 0 - - 9 Johan den Dunnen
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