Full data view for gene ACTN4

Information The variants shown are described using the NM_004924.4 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.169A>G r.(?) p.(Thr57Ala) Unknown - VUS g.39191246A>G - ACTN4(NM_004924.6):c.169A>G (p.(Thr57Ala)) - ACTN4_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246C>T r.(?) p.(Leu82=) Unknown - benign g.39191323C>T g.38700683C>T - - ACTN4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.398-16C>T r.(=) p.(=) Unknown - benign g.39195558C>T g.38704918C>T - - ACTN4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.537G>A r.(?) p.(Pro179=) Unknown - benign g.39196736G>A g.38706096G>A - - ACTN4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.546C>T r.(?) p.(Asn182=) Unknown - benign g.39196745C>T g.38706105C>T ACTN4(NM_004924.6):c.546C>T (p.N182=) - ACTN4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.546C>T r.(?) p.(Asn182=) Unknown - benign g.39196745C>T g.38706105C>T ACTN4(NM_004924.6):c.546C>T (p.N182=) - ACTN4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.546C>T r.(?) p.(Asn182=) Unknown - benign g.39196745C>T g.38706105C>T ACTN4(NM_004924.6):c.546C>T (p.N182=) - ACTN4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.720G>A r.(?) p.(Met240Ile) Unknown - likely pathogenic g.39200103G>A g.38709463G>A ACTN4(NM_004924.6):c.720G>A (p.M240I) - ACTN4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.781_782insATA r.(?) p.(Val261delinsAspMet) Unknown - VUS g.39200944_39200945insATA g.38710304_38710305insATA - - ACTN4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.820-128T>A r.(=) p.(=) Unknown - benign g.39204981T>A g.38714341T>A ACTN4(NM_004924.6):c.820-128T>A - ACTN4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.832G>A r.(?) p.(Ala278Thr) Unknown - VUS g.39205121G>A - ACTN4(NM_004924.6):c.832G>A (p.A278T) - ACTN4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.912+93G>A r.(=) p.(=) Unknown - benign g.39205294G>A g.38714654G>A ACTN4(NM_004924.6):c.912+93G>A - ACTN4_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.929G>A r.(?) p.(Arg310Gln) Unknown - benign g.39207742G>A g.38717102G>A ACTN4(NM_004924.4):c.929G>A (p.(Arg310Gln)), ACTN4(NM_004924.6):c.929G>A (p.R310Q) - ACTN4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.929G>A r.(?) p.(Arg310Gln) Unknown - likely benign g.39207742G>A g.38717102G>A ACTN4(NM_004924.4):c.929G>A (p.(Arg310Gln)), ACTN4(NM_004924.6):c.929G>A (p.R310Q) - ACTN4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.929G>A r.(?) p.(Arg310Gln) Unknown - benign g.39207742G>A - ACTN4(NM_004924.4):c.929G>A (p.(Arg310Gln)), ACTN4(NM_004924.6):c.929G>A (p.R310Q) - ACTN4_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1110C>T r.(?) p.(=) Unknown - likely benign g.39207923C>T - ACTN4(NM_004924.6):c.1110C>T (p.P370=) - ACTN4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1126G>A r.(?) p.(Glu376Lys) Unknown - VUS g.39207939G>A g.38717299G>A ACTN4(NM_004924.4):c.1126G>A (p.(Glu376Lys)) - ACTN4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1149C>G r.(?) p.(Ile383Met) Unknown - VUS g.39208572C>G g.38717932C>G - - ACTN4_000030 - PubMed: Buscher 2018 - - Germline no - - - - DNA SEQ-NG blood - FSGS5 - PubMed: Büscher 2018 4-generation family, 14 affected (6F, 8M) M no Germany - 44y - - - 7 Matthias Braunisch
-?/. - c.1174C>G r.(?) p.(Gln392Glu) Unknown - likely benign g.39208597C>G - ACTN4(NM_004924.6):c.1174C>G (p.Q392E) - ACTN4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1290C>T r.(?) p.(Asp430=) Unknown - likely benign g.39208713C>T - ACTN4(NM_004924.6):c.1290C>T (p.D430=) - ACTN4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1291+4C>T r.spl? p.? Unknown - likely benign g.39208718C>T g.38718078C>T ACTN4(NM_004924.5):c.1291+4C>T - ACTN4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1335A>G r.(?) p.(Thr445=) Unknown - likely benign g.39212221A>G - ACTN4(NM_004924.6):c.1335A>G (p.T445=) - ACTN4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1341G>A r.(?) p.(Ser447=) Unknown - likely benign g.39212227G>A g.38721587G>A ACTN4(NM_004924.5):c.1341G>A (p.S447=) - ACTN4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1425C>T r.(?) p.(Ala475=) Unknown - benign g.39212311C>T g.38721671C>T ACTN4(NM_004924.6):c.1425C>T (p.A475=) - ACTN4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1425C>T r.(?) p.(Ala475=) Unknown - likely benign g.39212311C>T - ACTN4(NM_004924.6):c.1425C>T (p.A475=) - ACTN4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1513C>A r.(?) p.(Leu505Ile) Unknown - VUS g.39214324C>A - ACTN4(NM_004924.4):c.1513C>A (p.(Leu505Ile)) - ACTN4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1608C>T r.(?) p.(Arg536=) Unknown - likely benign g.39214633C>T - ACTN4(NM_004924.6):c.1608C>T (p.R536=) - ACTN4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1611G>A r.(?) p.(=) Unknown - likely benign g.39214636G>A - ACTN4(NM_004924.6):c.1611G>A (p.A537=) - ACTN4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1692+4C>T r.spl? p.? Unknown - VUS g.39214721C>T - ACTN4(NM_004924.4):c.1692+4C>T (p.?) - ACTN4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1792G>T r.(?) p.(Ala598Ser) Unknown - VUS g.39214896G>T - ACTN4(NM_004924.5):c.1792G>T (p.A598S) - ACTN4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1977T>C r.(?) p.(Asn659=) Unknown - benign g.39215172T>C g.38724532T>C - - ACTN4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2191-5C>T r.spl? p.? Unknown - benign g.39217592C>T g.38726952C>T ACTN4(NM_004924.4):c.2191-5C>T (p.?), ACTN4(NM_004924.6):c.2191-5C>T - ACTN4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2191-5C>T r.spl? p.? Unknown - VUS g.39217592C>T g.38726952C>T ACTN4(NM_004924.4):c.2191-5C>T (p.?), ACTN4(NM_004924.6):c.2191-5C>T - ACTN4_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2217G>C r.(?) p.(Leu739=) Unknown - likely benign g.39217623G>C - ACTN4(NM_004924.6):c.2217G>C (p.L739=) - ACTN4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2319C>T r.(?) p.(Ser773=) Unknown - benign g.39217725C>T g.38727085C>T - - ACTN4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2401G>A r.(?) p.(Val801Met) Unknown - benign g.39218649G>A g.38728009G>A ACTN4(NM_004924.4):c.2401G>A (p.(Val801Met)), ACTN4(NM_004924.5):c.2401G>A (p.V801M), ACTN4(NM_004924.6):c.2401G>A (p.V801M) - ACTN4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2401G>A r.(?) p.(Val801Met) Unknown - likely benign g.39218649G>A g.38728009G>A ACTN4(NM_004924.4):c.2401G>A (p.(Val801Met)), ACTN4(NM_004924.5):c.2401G>A (p.V801M), ACTN4(NM_004924.6):c.2401G>A (p.V801M) - ACTN4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2401G>A r.(?) p.(Val801Met) Unknown - benign g.39218649G>A g.38728009G>A ACTN4(NM_004924.4):c.2401G>A (p.(Val801Met)), ACTN4(NM_004924.5):c.2401G>A (p.V801M), ACTN4(NM_004924.6):c.2401G>A (p.V801M) - ACTN4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2401G>A r.(?) p.(Val801Met) Unknown - likely benign g.39218649G>A - ACTN4(NM_004924.4):c.2401G>A (p.(Val801Met)), ACTN4(NM_004924.5):c.2401G>A (p.V801M), ACTN4(NM_004924.6):c.2401G>A (p.V801M) - ACTN4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2418+413_2418+424dup r.(=) p.(=) Unknown - benign g.39219079_39219090dup g.38728439_38728450dup ACTN4(NM_004924.6):c.2418+407_2418+418dupTCCTCCTCCTCC - ACTN4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2418+416_2418+424dup r.(=) p.(=) Unknown - benign g.39219082_39219090dup g.38728442_38728450dup ACTN4(NM_004924.6):c.2418+410_2418+418dupTCCTCCTCC, ACTN4(NM_004924.6):c.2418+413_2418+421dupTCCTCCTCC - ACTN4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2418+419_2418+424dup r.(=) p.(=) Unknown - benign g.39219085_39219090dup g.38728445_38728450dup ACTN4(NM_004924.6):c.2418+419_2418+424dupTCCTCC - ACTN4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2469C>T r.(?) p.(Ser823=) Unknown - likely benign g.39219686C>T - ACTN4(NM_004924.6):c.2469C>T (p.S823=) - ACTN4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2563T>C r.(?) p.(Leu855=) Unknown - benign g.39219780T>C g.38729140T>C - - ACTN4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2577+17C>T r.(=) p.(=) Unknown - benign g.39219811C>T - ACTN4(NM_004924.6):c.2577+17C>T - ACTN4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2670C>A r.(?) p.(Asp890Glu) Unknown - likely benign g.39220006C>A - ACTN4(NM_004924.6):c.2670C>A (p.D890E) - ACTN4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2679C>T r.(?) p.(Pro893=) Unknown - likely benign g.39220015C>T - ACTN4(NM_004924.6):c.2679C>T (p.P893=) - ACTN4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2680G>A r.(?) p.(Gly894Ser) Unknown - likely benign g.39220016G>A - ACTN4(NM_004924.6):c.2680G>A (p.G894S) - ACTN4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*125T>G r.(=) p.(=) Unknown - likely benign g.39220197T>G - ACTN4:c.*125T>G - ACTN4_000035 - PubMed: Maranhao 2015 - - Germline - 5/25 families - - - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - 5 LOVD
-?/. - c.*125T>G r.(=) p.(=) Unknown - likely benign g.39220197T>G - CAPN12:c.*293+d1002A>C - ACTN4_000035 - PubMed: Maranhao 2015 - - Germline - 5/25 families - - - DNA SEQ-NG - WES retinal disease - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - 5 LOVD
?/. - c.*4266dup r.(?) p.(=) Unknown - VUS g.39224338dup g.38733698dup CAPN12(NM_144691.3):c.1957+6_1957+7insG (p.(=)) - CAPN12_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9038G>A r.(=) p.(=) Unknown - VUS g.39229110G>A g.38738470G>A CAPN12(NM_144691.3):c.838C>T (p.(Arg280Trp)) - ACTN4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9047G>T r.(=) p.(=) Unknown - VUS g.39229119G>T - CAPN12(NM_144691.4):c.829C>A (p.(Arg277=)) - ACTN4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9174C>G r.(=) p.(=) Unknown - VUS g.39229246C>G - CAPN12(NM_144691.4):c.772G>C (p.G258R) - ACTN4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10717C>T r.(=) p.(=) Unknown - VUS g.39230789C>T g.38740149C>T CAPN12(NM_144691.3):c.631G>A (p.(Val211Met)) - ACTN4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*10719C>G r.(=) p.(=) Unknown - VUS g.39230791C>G - CAPN12(NM_144691.4):c.629G>C (p.(Gly210Ala)) - ACTN4_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*13070C>T r.(=) p.(=) Unknown - VUS g.39233142C>T - CAPN12(NM_144691.4):c.334G>A (p.(Ala112Thr)) - ACTN4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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