Full data view for gene ACAN

Information The variants shown are described using the NM_013227.3 transcript reference sequence.

493 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     
?/. - c.5C>T r.(?) p.(Thr2Ile) Unknown - VUS g.89379442C>T g.88836211C>T ACAN(NM_001135.3):c.5C>T (p.(Thr2Ile)) - ACAN_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.6_13del r.(?) p.(Thr3Leufs*21) Paternal (confirmed) - pathogenic g.89379443_89379450del g.88836212_88836219del 6_13delCACTTTAC (T3fsX21) - ACAN_000001 - - - - Germline yes - - - - DNA SEQ-NG-I - - stature, short - - - M no - - - - - - 1 Xuyun Hu
?/. - c.25G>A r.(?) p.(Val9Met) Unknown - VUS g.89379462G>A - - - ACAN_000215 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70+13C>T r.(=) p.(=) Unknown - likely benign g.89379520C>T - ACAN(NM_013227.3):c.70+13C>T (p.(=)) - ACAN_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72C>A r.(?) p.(Asp24Glu) Unknown - likely benign g.89381895C>A - ACAN(NM_013227.3):c.72C>A (p.(Asp24Glu)) - ACAN_000346 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75T>A r.(?) p.(His25Gln) Unknown - likely benign g.89381898T>A - ACAN(NM_001135.3):c.75T>A (p.(His25Gln)) - ACAN_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.75T>A r.(?) p.(His25Gln) Unknown - VUS g.89381898T>A - ACAN(NM_001135.3):c.75T>A (p.(His25Gln)) - ACAN_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84G>A r.(?) p.(Ser28=) Unknown - likely benign g.89381907G>A g.88838676G>A ACAN(NM_001135.3):c.84G>A (p.(Ser28=)) - ACAN_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113C>T r.(?) p.(Pro38Leu) Unknown - likely benign g.89381936C>T g.88838705C>T ACAN(NM_001135.3):c.113C>T (p.(Pro38Leu)) - ACAN_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.130G>A r.(?) p.(Gly44Arg) Unknown - VUS g.89381953G>A - ACAN(NM_013227.3):c.130G>A (p.(Gly44Arg)) - ACAN_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.163G>A r.(?) p.(Asp55Asn) Unknown - VUS g.89381986G>A - ACAN(NM_013227.3):c.163G>A (p.(Asp55Asn)) - ACAN_000371 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.164A>G r.(?) p.(Asp55Gly) Unknown - likely benign g.89381987A>G - ACAN(NM_001135.3):c.164A>G (p.(Asp55Gly)) - ACAN_000347 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.168C>T r.(?) p.(Pro56=) Unknown - likely benign g.89381991C>T - ACAN(NM_001135.3):c.168C>T (p.(=)) - ACAN_000348 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.173A>T r.(?) p.(His58Leu) Unknown - likely benign g.89381996A>T - ACAN(NM_013227.3):c.173A>T (p.(His58Leu)) - ACAN_000384 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185C>A r.(?) p.(Thr62Asn) Unknown - VUS g.89382008C>A - ACAN(NM_001135.3):c.185C>A (p.(Thr62Asn)) - ACAN_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186C>T r.(?) p.(Thr62=) Unknown - likely benign g.89382009C>T g.88838778C>T ACAN(NM_001135.3):c.186C>T (p.(Thr62=)) - ACAN_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199G>A r.(?) p.(Ala67Thr) Unknown - likely benign g.89382022G>A g.88838791G>A ACAN(NM_001135.3):c.199G>A (p.(Ala67Thr)), ACAN(NM_013227.3):c.199G>A (p.A67T) - ACAN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.199G>A r.(?) p.(Ala67Thr) Unknown - VUS g.89382022G>A g.88838791G>A ACAN(NM_001135.3):c.199G>A (p.(Ala67Thr)), ACAN(NM_013227.3):c.199G>A (p.A67T) - ACAN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.199G>A r.(?) p.(Ala67Thr) Unknown - likely benign g.89382022G>A g.88838791G>A ACAN(NM_001135.3):c.199G>A (p.(Ala67Thr)), ACAN(NM_013227.3):c.199G>A (p.A67T) - ACAN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.204A>C r.(?) p.(Pro68=) Unknown - benign g.89382027A>C g.88838796A>C ACAN(NM_001135.3):c.204A>C (p.(Pro68=)) - ACAN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.204A>C r.(?) p.(Pro68=) Unknown - likely benign g.89382027A>C - ACAN(NM_001135.3):c.204A>C (p.(Pro68=)) - ACAN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.205C>A r.(?) p.(Leu69Met) Unknown - VUS g.89382028C>A - ACAN(NM_001135.3):c.205C>A (p.(Leu69Met)) - ACAN_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>T r.(?) p.(Arg77Cys) Unknown - VUS g.89382052C>T g.88838821C>T ACAN(NM_001135.3):c.229C>T (p.(Arg77Cys)) - ACAN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>T r.(?) p.(Arg77Cys) Unknown - VUS g.89382052C>T g.88838821C>T ACAN(NM_001135.3):c.229C>T (p.(Arg77Cys)) - ACAN_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.230G>A r.(?) p.(Arg77His) Unknown - likely benign g.89382053G>A g.88838822G>A ACAN(NM_001135.3):c.230G>A (p.(Arg77His)) - ACAN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.230G>A r.(?) p.(Arg77His) Unknown - benign g.89382053G>A g.88838822G>A ACAN(NM_001135.3):c.230G>A (p.(Arg77His)) - ACAN_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.280G>A r.(?) p.(Val94Met) Unknown - VUS g.89382103G>A - ACAN(NM_001135.3):c.280G>A (p.(Val94Met)) - ACAN_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.306C>A r.(?) p.(Asp102Glu) Unknown - benign g.89382129C>A g.88838898C>A ACAN(NM_001135.3):c.306C>A (p.(Asp102Glu)) - ACAN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306C>A r.(?) p.(Asp102Glu) Unknown - likely benign g.89382129C>A g.88838898C>A ACAN(NM_001135.3):c.306C>A (p.(Asp102Glu)) - ACAN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.330G>A r.(?) p.(Pro110=) Unknown - VUS g.89382153G>A - ACAN(NM_001135.3):c.330G>A (p.(Pro110=)) - ACAN_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371G>A r.(?) p.(Arg124His) Unknown - VUS g.89382194G>A - ACAN(NM_001135.3):c.371G>A (p.(Arg124His)) - ACAN_000349 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.394C>T r.(?) p.(Arg132Cys) Unknown - VUS g.89382217C>T g.88838986C>T ACAN(NM_001135.3):c.394C>T (p.(Arg132Cys)) - ACAN_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.400G>A r.(?) p.(Glu134Lys) Unknown - VUS g.89382223G>A g.88838992G>A ACAN(NM_001135.3):c.400G>A (p.(Glu134Lys)), ACAN(NM_013227.3):c.400G>A (p.E134K) - ACAN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.400G>A r.(?) p.(Glu134Lys) Unknown - VUS g.89382223G>A - ACAN(NM_001135.3):c.400G>A (p.(Glu134Lys)), ACAN(NM_013227.3):c.400G>A (p.E134K) - ACAN_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.417C>T r.(?) p.(Ile139=) Unknown - likely benign g.89382240C>T - ACAN(NM_001135.3):c.417C>T (p.(Ile139=)) - ACAN_000372 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.438G>A r.(?) p.(Leu146=) Unknown - benign g.89382261G>A g.88839030G>A ACAN(NM_001135.3):c.438G>A (p.(Leu146=)) - ACAN_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444C>A r.(?) p.(Val148=) Unknown - likely benign g.89382267C>A - ACAN(NM_001135.3):c.444C>A (p.(=)) - ACAN_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444C>T r.(?) p.(Val148=) Unknown - likely benign g.89382267C>T - ACAN(NM_001135.3):c.444C>T (p.(=)) - ACAN_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.454+1G>A r.spl? p.? Unknown - likely pathogenic g.89382278G>A g.88839047G>A - - ACAN_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.454+12C>G r.(=) p.(=) Unknown - likely benign g.89382289C>G g.88839058C>G ACAN(NM_001135.3):c.454+12C>G (p.(=)) - ACAN_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.455-17G>A r.(=) p.(=) Unknown - VUS g.89383226G>A g.88839995G>A ACAN(NM_001135.3):c.455-17G>A (p.(=)) - ACAN_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.456C>T r.(?) p.(Gly152=) Unknown - likely benign g.89383244C>T g.88840013C>T ACAN(NM_001135.3):c.456C>T (p.(Gly152=)) - ACAN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.487C>T r.(?) p.(Arg163Cys) Unknown - VUS g.89383275C>T - ACAN(NM_001135.3):c.487C>T (p.(Arg163Cys)) - ACAN_000385 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.488G>A r.(?) p.(Arg163His) Unknown - VUS g.89383276G>A - ACAN(NM_001135.3):c.488G>A (p.(Arg163His)) - ACAN_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492C>T r.(?) p.(Tyr164=) Unknown - likely benign g.89383280C>T - ACAN(NM_001135.3):c.492C>T (p.(=)) - ACAN_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.519G>T r.(?) p.(Arg173=) Unknown - likely benign g.89383307G>T - ACAN(NM_001135.3):c.519G>T (p.(=)) - ACAN_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.539C>T r.(?) p.(Ala180Val) Unknown - VUS g.89383327C>T - ACAN(NM_001135.3):c.539C>T (p.(Ala180Val)) - ACAN_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.542T>A r.(?) p.(Ile181Asn) Unknown - VUS g.89383330T>A - ACAN(NM_001135.3):c.542T>A (p.(Ile181Asn)) - ACAN_000350 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.547G>A r.(?) p.(Ala183Thr) Unknown - likely pathogenic g.89383335G>A - - - ACAN_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.552G>A r.(?) p.(Thr184=) Unknown - likely benign g.89383340G>A - ACAN(NM_001135.3):c.552G>A (p.(Thr184=)) - ACAN_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.582C>T r.(?) p.(Asp194=) Unknown - benign g.89383370C>T g.88840139C>T ACAN(NM_001135.3):c.582C>T (p.(Asp194=)) - ACAN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.582C>T r.(?) p.(Asp194=) Unknown - likely benign g.89383370C>T - ACAN(NM_001135.3):c.582C>T (p.(Asp194=)) - ACAN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Asp200=) Unknown - likely benign g.89383388C>T - ACAN(NM_001135.3):c.600C>T (p.(=)) - ACAN_000386 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.630-1G>A r.spl? p.? Unknown - VUS g.89384970G>A - ACAN(NM_013227.3):c.630-1G>A (p.?) - ACAN_000351 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.634C>G r.(?) p.(Pro212Ala) Unknown - VUS g.89384975C>G - - - ACAN_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.650G>A r.(?) p.(Arg217Gln) Unknown - VUS g.89384991G>A - ACAN(NM_001135.3):c.650G>A (p.(Arg217Gln)) - ACAN_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.650G>A r.(?) p.(Arg217Gln) Unknown - VUS g.89384991G>A - ACAN(NM_001135.3):c.650G>A (p.(Arg217Gln)) - ACAN_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.661del r.(?) p.(Tyr221Metfs*10) Maternal (confirmed) - pathogenic g.89385002del g.88841771del 661delT (Y221fsX10) - ACAN_000002 - - - - Germline yes - - - - DNA SEQ-NG-I - - stature, short - - - M no - - - - - - 1 Xuyun Hu
+?/. - c.695C>T r.(?) p.(Thr232Met) Unknown - likely pathogenic g.89385036C>T g.88841805C>T ACAN(NM_013227.4):c.695C>T (p.T232M) - ACAN_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.703A>T r.(?) p.(Ile235Phe) Unknown - likely benign g.89385044A>T - ACAN(NM_001135.3):c.703A>T (p.(Ile235Phe)) - ACAN_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.706C>T r.(?) p.(Arg236Ter) Unknown - pathogenic g.89385047C>T g.88841816C>T ACAN(NM_001135.3):c.706C>T (p.(Arg236*)) - ACAN_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.707G>A r.(?) p.(Arg236Gln) Unknown - VUS g.89385048G>A - ACAN(NM_013227.3):c.707G>A (p.(Arg236Gln)) - ACAN_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.742G>A r.(?) p.(Ala248Thr) Unknown - likely pathogenic g.89385083G>A g.88841852G>A ACAN(NM_001135.3):c.742G>A (p.(Ala248Thr)) - ACAN_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744C>T r.(?) p.(Ala248=) Unknown - likely benign g.89385085C>T - ACAN(NM_001135.3):c.744C>T (p.(Ala248=)) - ACAN_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.754G>T r.(?) p.(Glu252*) Unknown - pathogenic g.89385095G>T - - - ACAN_000404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.757+17A>G r.(=) p.(=) Unknown - likely benign g.89385115A>G - ACAN(NM_001135.3):c.757+17A>G (p.(=)) - ACAN_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.820C>T r.(?) p.(Arg274Trp) Unknown - likely benign g.89386648C>T - ACAN(NM_001135.3):c.820C>T (p.(Arg274Trp)) - ACAN_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.824G>A r.(?) p.(Arg275Gln) Unknown - benign g.89386652G>A g.88843421G>A - - ACAN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.825G>A r.(?) p.(Arg275=) Unknown - likely benign g.89386653G>A - ACAN(NM_001135.3):c.825G>A (p.(Arg275=)) - ACAN_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.836G>A r.(?) p.(Arg279Gln) Unknown - likely benign g.89386664G>A - ACAN(NM_001135.3):c.836G>A (p.(Arg279Gln)) - ACAN_000373 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.860A>G r.(?) p.(Tyr287Cys) Unknown - VUS g.89386688A>G g.88843457A>G ACAN(NM_001135.3):c.860A>G (p.(Tyr287Cys)) - ACAN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.866C>A r.(?) p.(Ala289Asp) Unknown - VUS g.89386694C>A - - - ACAN_000374 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.867C>T r.(?) p.(Ala289=) Unknown - likely benign g.89386695C>T - ACAN(NM_001135.3):c.867C>T (p.(=)) - ACAN_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.893G>A r.(?) p.(Ser298Asn) Unknown - VUS g.89386721G>A g.88843490G>A ACAN(NM_013227.3):c.893G>A (p.S298N) - ACAN_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.895G>A r.(?) p.(Ala299Thr) Unknown - likely benign g.89386723G>A g.88843492G>A ACAN(NM_001135.3):c.895G>A (p.(Ala299Thr)) - ACAN_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.898G>A r.(?) p.(Gly300Ser) Unknown - VUS g.89386726G>A - ACAN(NM_001135.3):c.898G>A (p.(Gly300Ser)) - ACAN_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.905T>C r.(?) p.(Leu302Pro) Unknown - VUS g.89386733T>C - - - ACAN_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.910G>A r.(?) p.(Asp304Asn) Unknown - VUS g.89386738G>A - ACAN(NM_013227.3):c.910G>A (p.(Asp304Asn)) - ACAN_000405 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.912C>A r.(?) p.(Asp304Glu) Unknown - likely pathogenic g.89386740C>A g.88843509C>A - - ACAN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.913C>T r.(?) p.(Arg305Cys) Unknown - VUS g.89386741C>T g.88843510C>T ACAN(NM_001135.3):c.913C>T (p.(Arg305Cys)) - ACAN_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.919G>A r.(?) p.(Val307Met) Unknown - VUS g.89386747G>A - ACAN(NM_001135.3):c.919G>A (p.(Val307Met)) - ACAN_000352 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.924C>G r.(?) p.(Arg308=) Unknown - likely benign g.89386752C>G - ACAN(NM_001135.3):c.924C>G (p.(Arg308=)) - ACAN_000353 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.943C>T r.(?) p.(Arg315Trp) Unknown - VUS g.89386771C>T - ACAN(NM_001135.3):c.943C>T (p.(Arg315Trp)) - ACAN_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973G>A r.(?) p.(Val325Met) Unknown - VUS g.89386801G>A - ACAN(NM_001135.3):c.973G>A (p.(Val325Met)) - ACAN_000387 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.982G>A r.(?) p.(Val328Ile) Unknown - VUS g.89386810G>A - ACAN(NM_001135.3):c.982G>A (p.(Val328Ile)) - ACAN_000239 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.986dup r.(?) p.(Tyr329*) Unknown - pathogenic g.89386814dup - - - ACAN_000240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1005G>A r.(?) p.(Thr335=) Unknown - likely benign g.89386833G>A - ACAN(NM_001135.3):c.1005G>A (p.(Thr335=)) - ACAN_000241 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1013C>T r.(?) p.(Pro338Leu) Unknown - VUS g.89386841C>T g.88843610C>T ACAN(NM_001135.3):c.1013C>T (p.(Pro338Leu)) - ACAN_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1024T>C r.(?) p.(Ser342Pro) Unknown - VUS g.89386852T>C g.88843621T>C ACAN(NM_001135.3):c.1024T>C (p.(Ser342Pro)) - ACAN_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1051+2T>C r.spl? p.? Unknown - VUS g.89386881T>C - ACAN(NM_001135.3):c.1051+2T>C (p.?) - ACAN_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1051+9C>T r.(=) p.(=) Unknown - benign g.89386888C>T g.88843657C>T ACAN(NM_001135.3):c.1051+9C>T (p.(=)) - ACAN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1051+9C>T r.(=) p.(=) Unknown - benign g.89386888C>T g.88843657C>T ACAN(NM_001135.3):c.1051+9C>T (p.(=)) - ACAN_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1051+10G>A r.(=) p.(=) Unknown - benign g.89386889G>A g.88843658G>A ACAN(NM_001135.3):c.1051+10G>A (p.(=)) - ACAN_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1051+19T>G r.(=) p.(=) Unknown - VUS g.89386898T>G - ACAN(NM_001135.3):c.1051+19T>G (p.(=)) - ACAN_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1090dup r.(?) p.(Val364Glyfs*4) Maternal (confirmed) - pathogenic (dominant) g.89388774dup g.88845543dup 1090dupG - ACAN_000205 - - - - Germline yes - - - - DNA SEQ-NG Peripheral blood - SEDK - - 4-generation family, 6 affected (3M, 3F). F no China Chinese - - - - 6 Xiuli Zhao
-?/. - c.1113C>G r.(?) p.(Thr371=) Unknown - likely benign g.89388797C>G - ACAN(NM_001135.3):c.1113C>G (p.(Thr371=)) - ACAN_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114G>A r.(?) p.(Val372Ile) Unknown - likely benign g.89388798G>A - ACAN(NM_013227.3):c.1114G>A (p.(Val372Ile)) - ACAN_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.1120_1123del r.(?) p.(Thr374*) Paternal (confirmed) - pathogenic g.89388804_89388807del g.88845573_88845576del 1117_1120delCAGA (T374X) - ACAN_000003 - - - - Germline yes - - - - DNA SEQ-NG-I - - stature, short - - - M no - - - - - - 1 Xuyun Hu
?/. - c.1129T>C r.(?) p.(Trp377Arg) Unknown - VUS g.89388813T>C - ACAN(NM_001135.3):c.1129T>C (p.(Trp377Arg)) - ACAN_000354 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1180C>T r.(?) p.(Arg394*) Unknown - likely pathogenic g.89388864C>T - ACAN(NM_001135.3):c.1180C>T (p.(Arg394*)) - ACAN_000375 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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