Full data view for gene CLASP1

Information The variants shown are described using the NM_015282.2 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
Legend   How to query  

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.196-704G>A r.(=) p.(=) Unknown - benign g.122288605C>T - RNU4ATAC(NR_023343.1):n.*20C>T - CLASP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-680_196-670dup r.(=) p.(=) Unknown - VUS g.122288573_122288583dup - RNU4ATAC(NR_023343.1):n.117_118insTTTTTGGAAAA - CLASP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196-678C>T r.(=) p.(=) Unknown - pathogenic g.122288579G>A g.121531003G>A - - RNU4ATAC_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-651dup r.(=) p.(=) Unknown - VUS g.122288555dup - RNU4ATAC(NR_023343.1):n.96_97insT - CLASP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-647C>G r.(=) p.(=) Unknown - VUS g.122288548G>C - RNU4ATAC(NR_023343.1):n.93G>C - CLASP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196-647C>T r.(=) p.(=) Unknown - likely benign g.122288548G>A - RNU4ATAC(NR_023343.1):n.93G>A - CLASP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-645dup r.(=) p.(=) Unknown - VUS g.122288546dup - - - CLASP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-643T>C r.(=) p.(=) Unknown - VUS g.122288544A>G - - - CLASP1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-637C>T r.(=) p.(=) Unknown - VUS g.122288538G>A - - - CLASP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-634G>A r.(=) p.(=) Unknown - VUS g.122288535C>T - RNU4ATAC(NR_023343.1):n.80C>T - CLASP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-627G>C r.(=) p.(=) Unknown - VUS g.122288528C>G - RNU4ATAC(NR_023343.1):n.73C>G - CLASP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-626T>C r.(=) p.(=) Unknown - VUS g.122288527A>G - RNU4ATAC(NR_023343.1):n.72A>G - CLASP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196-612G>A r.(=) p.(=) Unknown - likely benign g.122288513C>T - - - CLASP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196-605C>T r.(=) p.(=) Unknown - pathogenic g.122288506G>A g.121530930G>A RNU4ATAC(NR_023343.1):n.51G>A - RNU4ATAC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196-605C>T r.(=) p.(=) Unknown - pathogenic g.122288506G>A - RNU4ATAC(NR_023343.1):n.51G>A - RNU4ATAC_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.196-604C>T r.(=) p.(=) Unknown - likely pathogenic g.122288505G>A g.121530929G>A RNU4ATAC(NR_023343.1):n.50G>A - RNU4ATAC_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196-602C>T r.(=) p.(=) Unknown - pathogenic g.122288503G>A - - - RNU4ATAC_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.196-602C>T r.(=) p.(=) Unknown ACMG likely pathogenic (recessive) g.122288503G>A - - - RNU4ATAC_000010 ACMG PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MISC-293 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+/. - c.196-600C>T r.(=) p.(=) Parent #2 - likely pathogenic (recessive) g.122288501G>A g.121530925G>A NR_023343.1:n.46G>A - RNU4ATAC_000017 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG0295 , 10DG0296, 10DG0297 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - - - - 3 LOVD
+?/. - c.196-600C>T r.(=) p.(=) Unknown - likely pathogenic g.122288501G>A - RNU4ATAC(NR_023343.1):n.46G>A - RNU4ATAC_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-596G>A r.(=) p.(=) Unknown - VUS g.122288497C>T g.121530921C>T RNU4ATAC(NR_023343.1):n.42C>T - CLASP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196-596G>A r.(=) p.(=) Unknown - likely benign g.122288497C>T - RNU4ATAC(NR_023343.1):n.42C>T - CLASP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-595C>T r.(=) p.(=) Unknown - VUS g.122288496G>A g.121530920G>A RNU4ATAC(NR_023343.1):n.41G>A - CLASP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-587G>A r.(=) p.(=) Unknown - VUS g.122288488C>T g.121530912C>T RNU4ATAC(NR_023343.1):n.33C>T - CLASP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-587G>A r.(=) p.(=) Unknown - VUS g.122288488C>T - RNU4ATAC(NR_023343.1):n.33C>T - CLASP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-587G>C r.(=) p.(=) Unknown - VUS g.122288488C>G g.121530912C>G - - CLASP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.196-584C>T r.(=) p.(=) Unknown - likely pathogenic g.122288485G>A - RNU4ATAC(NR_023343.1):n.30G>A - RNU4ATAC_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-579G>A r.(=) p.(=) Unknown - VUS g.122288480C>T g.121530904C>T RNU4ATAC(NR_023343.1):n.25C>T - CLASP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-577G>A r.(=) p.(=) Unknown - VUS g.122288478C>T g.121530902C>T RNU4ATAC(NR_023343.1):n.23C>T - CLASP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-577G>A r.(=) p.(=) Unknown - VUS g.122288478C>T - RNU4ATAC(NR_023343.1):n.23C>T - CLASP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196-570C>T r.(=) p.(=) Unknown - pathogenic g.122288471G>A g.121530895G>A RNU4ATAC(NR_023343.1):n.16G>A - RNU4ATAC_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196-567G>A r.(=) p.(=) Unknown - pathogenic g.122288468C>T g.121530892C>T RNU4ATAC(NR_023343.1):n.13C>T - RNU4ATAC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196-567G>A r.(=) p.(=) Parent #1 - likely pathogenic (recessive) g.122288468C>T g.121530892C>T NR_023343.1:n.13C>T - RNU4ATAC_000001 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 10DG0295 , 10DG0296, 10DG0297 PubMed: Maddirevula 2018 family, 3 affected (F, 2M) F;M yes - Arab - - - - 3 LOVD
+/. - c.196-567G>A r.(=) p.(=) Unknown ACMG pathogenic (recessive) g.122288468C>T - - - RNU4ATAC_000001 ACMG PM2, PP5_STRONG, PS4_MODERATE PubMed: Weisschuh 2024 218083 - Germline - - - - - DNA SEQ-NG - WGS ? MISC-293 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+/. - c.196-567G>A r.(=) p.(=) Unknown - pathogenic g.122288468C>T - RNU4ATAC(NR_023343.1):n.13C>T - RNU4ATAC_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.196-562G>A r.(=) p.(=) Unknown - likely pathogenic g.122288463C>T g.121530887C>T RNU4ATAC(NR_023343.1):n.8C>T - RNU4ATAC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.196-562G>A r.(=) p.(=) Unknown - pathogenic g.122288463C>T - RNU4ATAC(NR_023343.1):n.8C>T - RNU4ATAC_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-561G>A r.(=) p.(=) Unknown - VUS g.122288462C>T g.121530886C>T RNU4ATAC(NR_023343.1):n.7C>T - CLASP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-561G>A r.(=) p.(=) Unknown - VUS g.122288462C>T - RNU4ATAC(NR_023343.1):n.7C>T - CLASP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-559T>C r.(=) p.(=) Unknown - VUS g.122288460A>G g.121530884A>G RNU4ATAC(NR_023343.1):n.5A>G - CLASP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-554A>G r.(=) p.(=) Unknown - VUS g.122288455T>C - - - CLASP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196-547A>G r.(=) p.(=) Unknown - VUS g.122288448T>C - RNU4ATAC(NR_023343.1):n.-8T>C - CLASP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.196-544G>A r.(=) p.(=) Unknown - benign g.122288445C>T - RNU4ATAC(NR_023343.1):n.-11C>T - CLASP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.196-534del r.(=) p.(=) Unknown - likely benign g.122288435del - RNU4ATAC(NR_023343.1):n.-21delA - CLASP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368C>T r.(?) p.(Ala123Val) Unknown - likely benign g.122286263G>A - CLASP1(NM_015282.2):c.368C>T (p.(Ala123Val)) - CLASP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.809T>C r.(?) p.(Val270Ala) Unknown - likely benign g.122227440A>G g.121469864A>G CLASP1(NM_015282.2):c.809T>C (p.V270A) - CLASP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1912+2404C>T r.(=) p.(=) Unknown - likely benign g.122202509G>A - CLASP1(NM_001142273.1):c.1936+6C>T (p.?) - CLASP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2885C>G r.(?) p.(Ala962Gly) Unknown - VUS g.122159100G>C - CLASP1(NM_015282.2):c.2885C>G (p.(Ala962Gly)) - CLASP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2980-4dup r.spl? p.? Unknown - likely benign g.122154865dup g.121397289dup CLASP1(NM_015282.2):c.2980-4dupT - CLASP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3610A>G r.(?) p.(Ile1204Val) Unknown - likely benign g.122135107T>C g.121377531T>C CLASP1(NM_015282.2):c.3610A>G (p.I1204V) - CLASP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3763G>T r.(?) p.(Ala1255Ser) Unknown - VUS g.122125287C>A - CLASP1(NM_015282.2):c.3763G>T (p.(Ala1255Ser)) - CLASP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3770C>T r.(?) p.(Pro1257Leu) Unknown - likely benign g.122125280G>A - CLASP1(NM_015282.2):c.3770C>T (p.(Pro1257Leu)) - CLASP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3918C>A r.(?) p.(Asp1306Glu) Unknown - likely benign g.122122829G>T - CLASP1(NM_015282.2):c.3918C>A (p.(Asp1306Glu)) - CLASP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4348G>A r.(?) p.(Val1450Ile) Unknown - VUS g.122106153C>T - CLASP1(NM_015282.2):c.4348G>A (p.(Val1450Ile)) - CLASP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4360G>A r.(?) p.(Ala1454Thr) Unknown - likely benign g.122106141C>T - CLASP1(NM_015282.2):c.4360G>A (p.(Ala1454Thr)) - CLASP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.