Full data view for gene FGF12

Information The variants shown are described using the NM_021032.4 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.-319241_-319240dup r.(?) p.(=) Unknown - benign g.192445269_192445270dup - FGF12(NM_004113.6):c.-131+19_-131+20dupAA - FGF12_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-319240del r.(?) p.(=) Unknown - likely benign g.192445270del - FGF12(NM_004113.6):c.-131+21delA - FGF12_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-319240dup r.(?) p.(=) Unknown - likely benign g.192445270dup - FGF12(NM_004113.6):c.-131+21dupA - FGF12_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-315663T>A r.(?) p.(=) Unknown - likely benign g.192441675A>T - FGF12(NM_004113.6):c.13+3295T>A - FGF12_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-281C>G r.(?) p.(=) Unknown - likely benign g.192126293G>C - FGF12(NM_021032.5):c.-281C>G - FGF12_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70G>C r.(?) p.(Val24Leu) Unknown - likely benign g.192125943C>G g.192408154C>G FGF12(NM_021032.4):c.70G>C (p.(Val24Leu)) - FGF12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.131A>T r.(?) p.(His44Leu) Unknown - likely benign g.192125882T>A g.192408093T>A FGF12(NM_021032.4):c.131A>T (p.(His44Leu)) - FGF12_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278T>C r.(?) p.(Ile93Thr) Unknown - VUS g.192078249A>G g.192360460A>G FGF12(NM_004113.6):c.92T>C (p.(Ile31Thr)) - FGF12_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278T>C r.(?) p.(Ile93Thr) Unknown - likely benign g.192078249A>G - FGF12(NM_004113.6):c.92T>C (p.(Ile31Thr)) - FGF12_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.334G>A r.(?) p.(Gly112Ser) Unknown - likely pathogenic g.192053230C>T g.192335441C>T - - FGF12_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.334G>A r.(?) p.(Gly112Ser) Unknown ACMG pathogenic (dominant) g.192053230C>T - - - FGF12_000009 ACMG: Class 5 (PS2_VSTR, PS4_MOD, PM2_SUP, PP3) PMID: 27872899 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - EIEE 178069 - - M - Germany - - - - - 1 Andreas Laner
+/. - c.341G>A r.(?) p.(Arg114His) Unknown - pathogenic g.192053223C>T - FGF12(NM_004113.5):c.155G>A (p.(Arg114His)), FGF12(NM_021032.5):c.341G>A (p.R114H) - FGF12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.341G>A r.(?) p.(Arg114His) Unknown - pathogenic g.192053223C>T - FGF12(NM_004113.5):c.155G>A (p.(Arg114His)), FGF12(NM_021032.5):c.341G>A (p.R114H) - FGF12_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.341G>A r.(?) p.(Arg114His) Unknown - pathogenic (dominant) g.192053223C>T - NM_021032:c.G341A (R114H) - FGF12_000005 - PubMed: Hamdan 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WGS DEE HSC0120 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures 1 Johan den Dunnen
-?/. - c.414+19G>A r.(=) p.(=) Unknown - likely benign g.192053131C>T - FGF12(NM_021032.4):c.414+19G>A - FGF12_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.415-1534T>G r.(=) p.(=) Unknown - likely benign g.191889979A>C - FGF12(NM_004113.6):c.229-1534T>G - FGF12_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.415-8del r.(=) p.(=) Unknown - likely benign g.191888465del g.192170676del FGF12(NM_004113.5):c.229-8del (p.(=)), FGF12(NM_021032.4):c.415-8delT - FGF12_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.415-8del r.(=) p.(=) Unknown - benign g.191888465del - FGF12(NM_004113.5):c.229-8del (p.(=)), FGF12(NM_021032.4):c.415-8delT - FGF12_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.415-7C>T r.(=) p.(=) Unknown - likely benign g.191888452G>A g.192170663G>A FGF12(NM_004113.5):c.229-7C>T (p.(=)), FGF12(NM_021032.4):c.415-9_415-7delTTCinsTTT - FGF12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.415-7C>T r.(=) p.(=) Unknown - likely benign g.191888452G>A - FGF12(NM_004113.5):c.229-7C>T (p.(=)), FGF12(NM_021032.4):c.415-9_415-7delTTCinsTTT - FGF12_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.544C>G r.(?) p.(Gln182Glu) Unknown - likely benign g.191888316G>C g.192170527G>C FGF12(NM_004113.5):c.358C>G (p.(Gln120Glu)) - FGF12_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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