Unique variants in the HAPLN3 gene

Information The variants shown are described using the NM_178232.2 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.608G>A r.(?) p.(Arg203Gln) - likely benign g.89422386C>T g.88879155C>T HAPLN3(NM_178232.2):c.608G>A (p.(Arg203Gln)) - HAPLN3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.674C>T r.(?) p.(Pro225Leu) - VUS g.89422320G>A g.88879089G>A HAPLN3(NM_178232.2):c.674C>T (p.(Pro225Leu)) - HAPLN3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.742C>T r.(?) p.(Arg248Cys) - VUS g.89422252G>A - HAPLN3(NM_178232.2):c.742C>T (p.(Arg248Cys)) - HAPLN3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3433C>T r.(=) p.(=) - likely benign g.89417768G>A - ACAN(NM_013227.3):c.*56G>A (p.?) - HAPLN3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*3508C>T r.(=) p.(=) - likely benign g.89417693G>A - ACAN(NM_001135.3):c.7277G>A (p.(Arg2426His)) - HAPLN3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.*3509G>A r.(=) p.(=) - VUS g.89417692C>T - ACAN(NM_001135.3):c.7276C>T (p.(Arg2426Cys)) - HAPLN3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 1 - c.*3536G>A r.(=) p.(=) - VUS g.89417665C>T - ACAN(NM_001135.3):c.7249C>T (p.(Arg2417Trp)) - HAPLN3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*3542G>C r.(=) p.(=) - VUS g.89417659C>G - ACAN(NM_013227.3):c.7540C>G (p.(Gln2514Glu)) - HAPLN3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.*3572C>T r.(=) p.(=) - benign g.89417629G>A g.88874398G>A ACAN(NM_013227.4):c.7517-7G>A - ACAN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*3945C>T r.(=) p.(=) - likely benign g.89417256G>A g.88874025G>A - - ACAN_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*3946G>A r.(=) p.(=) - likely benign g.89417255C>T g.88874024C>T ACAN(NM_013227.3):c.7516C>T (p.(Pro2506Ser)) - HAPLN3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.*3963T>C r.(=) p.(=) - benign g.89417238A>G g.88874007A>G ACAN(NM_013227.4):c.7499A>G (p.Q2500R) - ACAN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.*3964G>A r.(=) p.(=) - VUS g.89417237C>T - ACAN(NM_013227.3):c.7498C>T (p.(Gln2500Ter)) - HAPLN3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.*3974C>T r.(=) p.(=) - likely pathogenic g.89417227G>A g.88873996G>A ACAN(NM_013227.3):c.7488G>A (p.(Trp2496Ter)) - HAPLN3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4045G>A r.(=) p.(=) - VUS g.89417156C>T - ACAN(NM_013227.3):c.7417C>T (p.(Arg2473Trp)) - HAPLN3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 2 - c.*4052G>A r.(=) p.(=) - likely benign g.89417149C>T g.88873918C>T ACAN(NM_013227.3):c.7410C>T (p.(Ser2470=)) - ACAN_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 1 - c.*4068C>T r.(=) p.(=) - VUS g.89417133G>A g.88873902G>A ACAN(NM_013227.3):c.7394G>A (p.(Arg2465Gln)) - HAPLN3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 3 - c.*4084C>T r.(=) p.(=) - VUS g.89417117G>A - ACAN(NM_013227.3):c.7378G>A (p.(Gly2460Arg)), ACAN(NM_013227.4):c.7378G>A (p.G2460R) - HAPLN3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.*4120C>T r.(=) p.(=) - VUS g.89417081G>A - ACAN(NM_013227.3):c.7342G>A (p.(Gly2448Arg)) - HAPLN3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*4121G>A r.(=) p.(=) - likely benign g.89417080C>T g.88873849C>T ACAN(NM_013227.3):c.7341C>T (p.(Cys2447=)) - HAPLN3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*4136G>A r.(=) p.(=) - likely benign g.89417065C>T - ACAN(NM_013227.3):c.7334-8C>T (p.(=)) - HAPLN3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*4934C>T r.(=) p.(=) - likely benign g.89416267G>A - ACAN(NM_001135.3):c.7219+11G>A (p.(=)) - HAPLN3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4950C>T r.(=) p.(=) - VUS g.89416251G>A - ACAN(NM_001135.3):c.7214G>A (p.(Gly2405Asp)) - HAPLN3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4968G>A r.(=) p.(=) - VUS g.89416233C>T - ACAN(NM_001135.3):c.7196C>T (p.(Pro2399Leu)) - HAPLN3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4984A>C r.(=) p.(=) - VUS g.89416217T>G g.88872986T>G - - HAPLN3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*5002C>T r.(=) p.(=) - likely benign g.89416199G>A - ACAN(NM_001135.3):c.7162G>A (p.(Glu2388Lys)) - HAPLN3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.*5003G>A r.(=) p.(=) - VUS g.89416198C>T g.88872967C>T ACAN(NM_013227.3):c.7275C>T (p.(=)) - HAPLN3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
-?/. 1 - c.*5012G>A r.(=) p.(=) - likely benign g.89416189C>T g.88872958C>T ACAN(NM_001135.3):c.7152C>T (p.(=)) - HAPLN3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/., ?/. 2 - c.*5029C>T r.(=) p.(=) - pathogenic, VUS g.89416172G>A - ACAN(NM_001135.3):c.7135G>A (p.(Val2379Met)) - HAPLN3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
-?/. 1 - c.*5045G>A r.(=) p.(=) - likely benign g.89416156C>T - ACAN(NM_001135.3):c.7119C>T (p.(Ala2373=)) - HAPLN3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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